Gusella, James
eCommons Login: JFG2
first name: James
last name: Gusella
coauthor of: MacDonald, Marcy
coauthor of: Talkowski, Michael
coauthor of: Wheeler, Vanessa
coauthor of: Ramesh, Vijaya
coauthor of: Mclean, Zachariah
full name: James Francis Gusella, Ph.D.
has faculty rank: Full Professor
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latitude: 42.36125700000000
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Person ID: 78528
person in primary position: Bullard Professor of Neurogenetics in the Department of Genetics
physical neighbor: Bongard, Deverie
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similar to: MacDonald, Marcy
similar to: DiFiglia, Marian
similar to: Wheeler, Vanessa
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type: Agent
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selected publications: Authorship 1852276
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The organization of a nuclear DNA sequence from a higher plant: molecular cloning and characterization of soybean ribosomal DNA.
PubMed Identifier: 160361
author list: Varsanyi-Breiner A, Gusella JF, Keys C, Housman DE, Sullivan D, Brisson N, Verma DP
published in: Gene
information resource reference: The organization of a nuclear DNA sequence from a higher plant: molecular cloning and characterization of soybean ribosomal DNA. Gene. 1979 Nov; 7(3-4):317-34.
journal title abbreviation: Gene
publication date: 1979-11-01T00:00:00
year: 1979
type: Academic Article
type: Article
type: Document
type: Information Resource

No post-genetics era in human disease research.
PubMed Identifier: 11823793
author list: Gusella J, MacDonald M
published in: Nature reviews. Genetics
information resource reference: No post-genetics era in human disease research. Nat Rev Genet. 2002 Jan; 3(1):72-9.
journal title abbreviation: Nat Rev Genet
publication date: 2002-01-01T00:00:00
year: 2002
type: Academic Article
type: Article
type: Document
type: Information Resource

Interdomain interaction of merlin isoforms and its influence on intermolecular binding to NHE-RF.
PubMed Identifier: 10567424
author list: Gonzalez-Agosti C, Wiederhold T, Herndon ME, Gusella J, Ramesh V
published in: The Journal of biological chemistry
information resource reference: Interdomain interaction of merlin isoforms and its influence on intermolecular binding to NHE-RF. J Biol Chem. 1999 Nov 26; 274(48):34438-42.
journal title abbreviation: J Biol Chem
publication date: 1999-11-26T00:00:00
year: 1999
type: Academic Article
type: Article
type: Document
type: Information Resource

Linkage, but not gene order, of homologous loci, including alpha-L-iduronidase (Idua), is conserved in the Huntington disease region of the mouse and human genomes.
PubMed Identifier: 1533802
author list: Koizumi T, MacDonald M, Búcan M, Hopwood JJ, Morris CP, Scott HS, Gusella JF, Nadeau JH
published in: Mammalian genome : official journal of the International Mammalian Genome Society
information resource reference: Linkage, but not gene order, of homologous loci, including alpha-L-iduronidase (Idua), is conserved in the Huntington disease region of the mouse and human genomes. Mamm Genome. 1992; 3(1):23-7.
journal title abbreviation: Mamm Genome
publication date: 1992-01-01T00:00:00
year: 1992
type: Academic Article
type: Article
type: Document
type: Information Resource

New DNA markers in the Huntington's disease gene candidate region.
PubMed Identifier: 1684879
author list: Lin CS, Altherr M, Bates G, Whaley WL, Read AP, Harris R, Lehrach H, Wasmuth JJ, Gusella JF, MacDonald ME
published in: Somatic cell and molecular genetics
information resource reference: New DNA markers in the Huntington's disease gene candidate region. Somat Cell Mol Genet. 1991 Sep; 17(5):481-8.
journal title abbreviation: Somat Cell Mol Genet
publication date: 1991-09-01T00:00:00
year: 1991
type: Academic Article
type: Article
type: Document
type: Information Resource

Interaction of normal and expanded CAG repeat sizes influences age at onset of Huntington disease.
PubMed Identifier: 12784292
author list: Djoussé L, Knowlton B, Hayden M, Almqvist EW, Brinkman R, Ross C, Margolis R, Rosenblatt A, Durr A, Dode C, Morrison PJ, Novelletto A, Frontali M, Trent RJ, McCusker E, Gómez-Tortosa E, Mayo D, Jones R, Zanko A, Nance M, Abramson R, Suchowersky O, Paulsen J, Harrison M, Yang Q, Cupples LA, Gusella JF, MacDonald ME, Myers RH
published in: American journal of medical genetics. Part A
information resource reference: Interaction of normal and expanded CAG repeat sizes influences age at onset of Huntington disease. Am J Med Genet A. 2003 Jun 15; 119A(3):279-82.
journal title abbreviation: Am J Med Genet A
publication date: 2003-06-15T00:00:00
year: 2003
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 107049
type: Authorship
author rank in publication: 7
linked author: Gusella, James
linked information resource: Linkage analyses of multiple endocrine neoplasia, type 2A (MEN-2A) with 20 DNA polymorphisms: 5% of the genome excluded.

Isolation and localization of DNA segments from specific human chromosomes.
PubMed Identifier: 6930670
author list: Gusella JF, Keys C, VarsanyiBreiner A, Kao FT, Jones C, Puck TT, Housman D
published in: Proceedings of the National Academy of Sciences of the United States of America
information resource reference: Isolation and localization of DNA segments from specific human chromosomes. Proc Natl Acad Sci U S A. 1980 May; 77(5):2829-33.
journal title abbreviation: Proc Natl Acad Sci U S A
publication date: 1980-05-01T00:00:00
year: 1980
type: Academic Article
type: Article
type: Document
type: Information Resource

Amyloid protein precursor messenger RNAs: differential expression in Alzheimer's disease.
PubMed Identifier: 2457949
author list: Palmert MR, Golde TE, Cohen ML, Kovacs DM, Tanzi RE, Gusella JF, Usiak MF, Younkin LH, Younkin SG
published in: Science (New York, N.Y.)
information resource reference: Amyloid protein precursor messenger RNAs: differential expression in Alzheimer's disease. Science. 1988 Aug 26; 241(4869):1080-4.
journal title abbreviation: Science
publication date: 1988-08-26T00:00:00
year: 1988
type: Academic Article
type: Article
type: Document
type: Information Resource

Hypogonadotropic hypogonadism and cleft lip and palate caused by a balanced translocation producing haploinsufficiency for FGFR1.
PubMed Identifier: 16061567
author list: Kim HG, Herrick SR, Lemyre E, Kishikawa S, Salisz JA, Seminara S, MacDonald ME, Bruns GA, Morton CC, Quade BJ, Gusella JF
published in: Journal of medical genetics
information resource reference: Hypogonadotropic hypogonadism and cleft lip and palate caused by a balanced translocation producing haploinsufficiency for FGFR1. J Med Genet. 2005 Aug; 42(8):666-72.
journal title abbreviation: J Med Genet
publication date: 2005-08-01T00:00:00
year: 2005
type: Academic Article
type: Article
type: Document
type: Information Resource

Commitment of murine erythroleukemia (MEL) cells to terminal differentiation is associated with coordinated expression of globin and ribosomal genes.
PubMed Identifier: 6300921
author list: Tsiftsoglou AS, Wong W, Volloch V, Gusella J, Housman D
published in: Progress in clinical and biological research
information resource reference: Commitment of murine erythroleukemia (MEL) cells to terminal differentiation is associated with coordinated expression of globin and ribosomal genes. Prog Clin Biol Res. 1982; 102 pt A:69-79.
journal title abbreviation: Prog Clin Biol Res
publication date: 1982-01-01T00:00:00
year: 1982
type: Academic Article
type: Article
type: Document
type: Information Resource

Molecular hybridization under conditions of high stringency permits cloned DNA segments containing reiterated DNA sequences to be assigned to specific chromosomal locations.
PubMed Identifier: 6582508
author list: Fisher JH, Gusella JF, Scoggin CH
published in: Proceedings of the National Academy of Sciences of the United States of America
information resource reference: Molecular hybridization under conditions of high stringency permits cloned DNA segments containing reiterated DNA sequences to be assigned to specific chromosomal locations. Proc Natl Acad Sci U S A. 1984 Jan; 81(2):520-4.
journal title abbreviation: Proc Natl Acad Sci U S A
publication date: 1984-01-01T00:00:00
year: 1984
type: Academic Article
type: Article
type: Document
type: Information Resource

Expression of PTPH1, a rat protein tyrosine phosphatase, is restricted to the derivatives of a specific diencephalic segment.
PubMed Identifier: 7644504
author list: Sahin M, Slaugenhaupt SA, Gusella JF, Hockfield S
published in: Proceedings of the National Academy of Sciences of the United States of America
information resource reference: Expression of PTPH1, a rat protein tyrosine phosphatase, is restricted to the derivatives of a specific diencephalic segment. Proc Natl Acad Sci U S A. 1995 Aug 15; 92(17):7859-63.
journal title abbreviation: Proc Natl Acad Sci U S A
publication date: 1995-08-15T00:00:00
year: 1995
type: Academic Article
type: Article
type: Document
type: Information Resource

Isolation, characterization, and mapping of gene encoding dihydrolipoyl succinyltransferase (E2k) of human alpha-ketoglutarate dehydrogenase complex.
PubMed Identifier: 8009371
author list: Ali G, Wasco W, Cai X, Szabo P, Sheu KF, Cooper AJ, Gaston SM, Gusella JF, Tanzi RE, Blass JP
published in: Somatic cell and molecular genetics
information resource reference: Isolation, characterization, and mapping of gene encoding dihydrolipoyl succinyltransferase (E2k) of human alpha-ketoglutarate dehydrogenase complex. Somat Cell Mol Genet. 1994 Mar; 20(2):99-105.
journal title abbreviation: Somat Cell Mol Genet
publication date: 1994-03-01T00:00:00
year: 1994
type: Academic Article
type: Article
type: Document
type: Information Resource

Analysis of the c-FOS gene on chromosome 14 and the promoter of the amyloid precursor protein gene in familial Alzheimer's disease.
PubMed Identifier: 8232942
author list: Rogaev EI, Lukiw WJ, Vaula G, Haines JL, Rogaeva EA, Tsuda T, Alexandrova N, Liang Y, Mortilla M, Amaducci L, Bergamini L, Bruni AC, Foncin JF, Macciardi F, Montesi M, Sorbi S, Rainero I, Pinessi L, Polinsky RJ, Frommelt P, Duara R, Lopez R, Pollen D, Gusella JF, Tanzi R, MacLachlan D, Crapper D, St George-Hyslop PH
published in: Neurology
information resource reference: Analysis of the c-FOS gene on chromosome 14 and the promoter of the amyloid precursor protein gene in familial Alzheimer's disease. Neurology. 1993 Nov; 43(11):2275-9.
journal title abbreviation: Neurology
publication date: 1993-11-01T00:00:00
year: 1993
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 108468
type: Authorship
author rank in publication: 1
linked author: Gusella, James
linked information resource: Elastic DNA elements--boon or blight?

Genetic linkage studies in autosomal dominantly inherited L-DOPA responsive parkinsonism. Evaluation of candidate genes.
PubMed Identifier: 8615189
author list: Gasser T, Wszolek Z, Supala A, Trofatter J, Ozelius L, Uitti RJ, Pfeiffer RF, Gusella J, Calne D, Breakefield XO
published in: Advances in neurology
information resource reference: Genetic linkage studies in autosomal dominantly inherited L-DOPA responsive parkinsonism. Evaluation of candidate genes. Adv Neurol. 1996; 69:87-95.
journal title abbreviation: Adv Neurol
publication date: 1996-01-01T00:00:00
year: 1996
type: Academic Article
type: Article
type: Document
type: Information Resource

NFIA haploinsufficiency is associated with a CNS malformation syndrome and urinary tract defects.
PubMed Identifier: 17530927
author list: Lu W, Quintero-Rivera F, Fan Y, Alkuraya FS, Donovan DJ, Xi Q, Turbe-Doan A, Li QG, Campbell CG, Shanske AL, Sherr EH, Ahmad A, Peters R, Rilliet B, Parvex P, Bassuk AG, Harris DJ, Ferguson H, Kelly C, Walsh CA, Gronostajski RM, Devriendt K, Higgins A, Ligon AH, Quade BJ, Morton CC, Gusella JF, Maas RL
published in: PLoS genetics
information resource reference: NFIA haploinsufficiency is associated with a CNS malformation syndrome and urinary tract defects. PLoS Genet. 2007 May 25; 3(5):e80.
journal title abbreviation: PLoS Genet
publication date: 2007-05-25T00:00:00
year: 2007
type: Academic Article
type: Article
type: Document
type: Information Resource

Cloning, characterization, and genomic structure of the mouse Ikbkap gene.
PubMed Identifier: 11747609
author list: Cuajungco MP, Leyne M, Mull J, Gill SP, Gusella JF, Slaugenhaupt SA
published in: DNA and cell biology
information resource reference: Cloning, characterization, and genomic structure of the mouse Ikbkap gene. DNA Cell Biol. 2001 Sep; 20(9):579-86.
journal title abbreviation: DNA Cell Biol
publication date: 2001-09-01T00:00:00
year: 2001
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 111487
type: Authorship
author rank in publication: 12
linked author: Gusella, James
linked information resource: Expanding the phenotype and genotype of female GnRH deficiency.

Exclusion mapping of the hereditary dentatorubropallidoluysian atrophy gene from the Huntington's disease locus.
PubMed Identifier: 1969487
author list: Kondo I, Ohta H, Yazaki M, Ikeda JE, Gusella JF, Kanazawa I
published in: Journal of medical genetics
information resource reference: Exclusion mapping of the hereditary dentatorubropallidoluysian atrophy gene from the Huntington's disease locus. J Med Genet. 1990 Feb; 27(2):105-8.
journal title abbreviation: J Med Genet
publication date: 1990-02-01T00:00:00
year: 1990
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 101669
type: Authorship
author rank in publication: 8
linked author: Gusella, James
linked information resource: Predictive testing for Huntington's disease with use of a linked DNA marker.

Haplotypes and gene expression implicate the MAPT region for Parkinson disease: the GenePD Study.
PubMed Identifier: 18509094
author list: Tobin JE, Latourelle JC, Lew MF, Klein C, Suchowersky O, Shill HA, Golbe LI, Mark MH, Growdon JH, Wooten GF, Racette BA, Perlmutter JS, Watts R, Guttman M, Baker KB, Goldwurm S, Pezzoli G, Singer C, Saint-Hilaire MH, Hendricks AE, Williamson S, Nagle MW, Wilk JB, Massood T, Laramie JM, DeStefano AL, Litvan I, Nicholson G, Corbett A, Isaacson S, Burn DJ, Chinnery PF, Pramstaller PP, Sherman S, Al-hinti J, Drasby E, Nance M, Moller AT, Ostergaard K, Roxburgh R, Snow B, Slevin JT, Cambi F, Gusella JF, Myers RH
published in: Neurology
information resource reference: Haplotypes and gene expression implicate the MAPT region for Parkinson disease: the GenePD Study. Neurology. 2008 Jul 01; 71(1):28-34.
journal title abbreviation: Neurology
publication date: 2008-05-28T00:00:00
year: 2008
type: Academic Article
type: Article
type: Document
type: Information Resource

Characterization of an unusual and complex chromosome 21 rearrangement using somatic cell genetics and cloned DNA probes.
PubMed Identifier: 2529766
author list: Van Keuren ML, Stewart GD, Bradley CM, Kurnit DM, Neve RL, Watkins PC, Tanzi RE, Gusella JF, Patterson D
published in: American journal of medical genetics
information resource reference: Characterization of an unusual and complex chromosome 21 rearrangement using somatic cell genetics and cloned DNA probes. Am J Med Genet. 1989 Jul; 33(3):369-75.
journal title abbreviation: Am J Med Genet
publication date: 1989-07-01T00:00:00
year: 1989
type: Academic Article
type: Article
type: Document
type: Information Resource

Huntington disease-linked restriction fragment length polymorphism localized within band p16.1 of chromosome 4 by in situ hybridization.
PubMed Identifier: 2876628
author list: Magenis RE, Gusella J, Weliky K, Olson S, Haight G, Toth-Fejel S, Sheehy R
published in: American journal of human genetics
information resource reference: Huntington disease-linked restriction fragment length polymorphism localized within band p16.1 of chromosome 4 by in situ hybridization. Am J Hum Genet. 1986 Sep; 39(3):383-91.
journal title abbreviation: Am J Hum Genet
publication date: 1986-09-01T00:00:00
year: 1986
type: Academic Article
type: Article
type: Document
type: Information Resource

Recombinant DNA techniques in the diagnosis of inherited disorders.
PubMed Identifier: 2940264
author list: Gusella JF
published in: The Journal of clinical investigation
information resource reference: Recombinant DNA techniques in the diagnosis of inherited disorders. J Clin Invest. 1986 Jun; 77(6):1723-6.
journal title abbreviation: J Clin Invest
publication date: 1986-06-01T00:00:00
year: 1986
type: Academic Article
type: Article
type: Document
type: Information Resource

Molecular analysis of a deletion hotspot in the NRXN1 region reveals the involvement of short inverted repeats in deletion CNVs.
PubMed Identifier: 23472757
author list: Chen X, Shen Y, Zhang F, Chiang C, Pillalamarri V, Blumenthal I, Talkowski M, Wu BL, Gusella JF
published in: American journal of human genetics
information resource reference: Molecular analysis of a deletion hotspot in the NRXN1 region reveals the involvement of short inverted repeats in deletion CNVs. Am J Hum Genet. 2013 Mar 07; 92(3):375-86.
journal title abbreviation: Am J Hum Genet
publication date: 2013-03-07T00:00:00
year: 2013
type: Academic Article
type: Article
type: Document
type: Information Resource

Investigation of gyrate atrophy using a cDNA clone for human ornithine aminotransferase.
PubMed Identifier: 3816496
author list: Ramesh V, Shaffer MM, Allaire JM, Shih VE, Gusella JF
published in: DNA (Mary Ann Liebert, Inc.)
information resource reference: Investigation of gyrate atrophy using a cDNA clone for human ornithine aminotransferase. DNA. 1986 Dec; 5(6):493-501.
journal title abbreviation: DNA
publication date: 1986-12-01T00:00:00
year: 1986
type: Academic Article
type: Article
type: Document
type: Information Resource

Huntington disease: estimation of heterozygote status using linked genetic markers.
PubMed Identifier: 6242401
author list: Conneally PM, Wallace MR, Gusella JF, Wexler NS
published in: Genetic epidemiology
information resource reference: Huntington disease: estimation of heterozygote status using linked genetic markers. Genet Epidemiol. 1984; 1(1):81-8.
journal title abbreviation: Genet Epidemiol
publication date: 1984-01-01T00:00:00
year: 1984
type: Academic Article
type: Article
type: Document
type: Information Resource

Use of cyclosporin A in establishing Epstein-Barr virus-transformed human lymphoblastoid cell lines.
PubMed Identifier: 6519667
author list: Anderson MA, Gusella JF
published in: In vitro
information resource reference: Use of cyclosporin A in establishing Epstein-Barr virus-transformed human lymphoblastoid cell lines. In Vitro. 1984 Nov; 20(11):856-8.
journal title abbreviation: In Vitro
publication date: 1984-11-01T00:00:00
year: 1984
type: Academic Article
type: Article
type: Document
type: Information Resource

Mapping of the gene for the Mel1a-melatonin receptor to human chromosome 4 (MTNR1A) and mouse chromosome 8 (Mtnr1a).
PubMed Identifier: 7558006
author list: Slaugenhaupt SA, Roca AL, Liebert CB, Altherr MR, Gusella JF, Reppert SM
published in: Genomics
information resource reference: Mapping of the gene for the Mel1a-melatonin receptor to human chromosome 4 (MTNR1A) and mouse chromosome 8 (Mtnr1a). Genomics. 1995 May 20; 27(2):355-7.
journal title abbreviation: Genomics
publication date: 1995-05-20T00:00:00
year: 1995
type: Academic Article
type: Article
type: Document
type: Information Resource

The isolation of cDNAs within the Huntington disease region by hybridisation of yeast artificial chromosomes to a cDNA library.
PubMed Identifier: 8499921
author list: Snell RG, Doucette-Stamm LA, Gillespie KM, Taylor SA, Riba L, Bates GP, Altherr MR, MacDonald ME, Gusella JF, Wasmuth JJ
published in: Human molecular genetics
information resource reference: The isolation of cDNAs within the Huntington disease region by hybridisation of yeast artificial chromosomes to a cDNA library. Hum Mol Genet. 1993 Mar; 2(3):305-9.
journal title abbreviation: Hum Mol Genet
publication date: 1993-03-01T00:00:00
year: 1993
type: Academic Article
type: Article
type: Document
type: Information Resource

Dinucleotide repeat polymorphism at the debrisoquine 4-hydroxylase (CYP2D) locus.
PubMed Identifier: 2041763
author list: Trofatter JA, Gusella JF, Haines JL
published in: Nucleic acids research
information resource reference: Dinucleotide repeat polymorphism at the debrisoquine 4-hydroxylase (CYP2D) locus. Nucleic Acids Res. 1991 May 25; 19(10):2802.
journal title abbreviation: Nucleic Acids Res
publication date: 1991-05-25T00:00:00
year: 1991
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 1064338
type: Authorship
author rank in publication: 16
linked author: Gusella, James
linked information resource: Population-specific genetic modification of Huntington's disease in Venezuela.

Population-specific genetic modification of Huntington's disease in Venezuela.
PubMed Identifier: 29750799
author list: Chao MJ, Kim KH, Shin JW, Lucente D, Wheeler VC, Li H, Roach JC, Hood L, Wexler NS, Jardim LB, Holmans P, Jones L, Orth M, Kwak S, MacDonald ME, Gusella JF, Lee JM
published in: PLoS genetics
information resource reference: Population-specific genetic modification of Huntington's disease in Venezuela. PLoS Genet. 2018 05; 14(5):e1007274.
journal title abbreviation: PLoS Genet
publication date: 2018-05-11T00:00:00
year: 2018
type: Academic Article
type: Article
type: Document
type: Information Resource

Genome-wide significance for a modifier of age at neurological onset in Huntington's disease at 6q23-24: the HD MAPS study.
PubMed Identifier: 16914060
author list: Li JL, Hayden MR, Warby SC, Durr A, Morrison PJ, Nance M, Ross CA, Margolis RL, Rosenblatt A, Squitieri F, Frati L, Gómez-Tortosa E, García CA, Suchowersky O, Klimek ML, Trent RJ, McCusker E, Novelletto A, Frontali M, Paulsen JS, Jones R, Ashizawa T, Lazzarini A, Wheeler VC, Prakash R, Xu G, Djoussé L, Mysore JS, Gillis T, Hakky M, Cupples LA, Saint-Hilaire MH, Cha JH, Hersch SM, Penney JB, Harrison MB, Perlman SL, Zanko A, Abramson RK, Lechich AJ, Duckett A, Marder K, Conneally PM, Gusella JF, MacDonald ME, Myers RH
published in: BMC medical genetics
information resource reference: Genome-wide significance for a modifier of age at neurological onset in Huntington's disease at 6q23-24: the HD MAPS study. BMC Med Genet. 2006 Aug 17; 7:71.
journal title abbreviation: BMC Med Genet
publication date: 2006-08-17T00:00:00
year: 2006
type: Academic Article
type: Article
type: Document
type: Information Resource

Linkage analysis identifies a novel locus for restless legs syndrome on chromosome 2q in a South Tyrolean population isolate.
PubMed Identifier: 16960808
author list: Pichler I, Marroni F, Volpato CB, Gusella JF, Klein C, Casari G, De Grandi A, Pramstaller PP
published in: American journal of human genetics
information resource reference: Linkage analysis identifies a novel locus for restless legs syndrome on chromosome 2q in a South Tyrolean population isolate. Am J Hum Genet. 2006 Oct; 79(4):716-23.
journal title abbreviation: Am J Hum Genet
publication date: 2006-08-14T00:00:00
year: 2006
type: Academic Article
type: Article
type: Document
type: Information Resource

Herbicide exposure modifies GSTP1 haplotype association to Parkinson onset age: the GenePD Study.
PubMed Identifier: 17190945
author list: Wilk JB, Tobin JE, Suchowersky O, Shill HA, Klein C, Wooten GF, Lew MF, Mark MH, Guttman M, Watts RL, Singer C, Growdon JH, Latourelle JC, Saint-Hilaire MH, DeStefano AL, Prakash R, Williamson S, Berg CJ, Sun M, Goldwurm S, Pezzoli G, Racette BA, Perlmutter JS, Parsian A, Baker KB, Giroux ML, Litvan I, Pramstaller PP, Nicholson G, Burn DJ, Chinnery PF, Vieregge P, Slevin JT, Cambi F, MacDonald ME, Gusella JF, Myers RH, Golbe LI
published in: Neurology
information resource reference: Herbicide exposure modifies GSTP1 haplotype association to Parkinson onset age: the GenePD Study. Neurology. 2006 Dec 26; 67(12):2206-10.
journal title abbreviation: Neurology
publication date: 2006-12-26T00:00:00
year: 2006
type: Academic Article
type: Article
type: Document
type: Information Resource

Unbiased gene expression analysis implicates the huntingtin polyglutamine tract in extra-mitochondrial energy metabolism.
PubMed Identifier: 17708681
author list: Lee JM, Ivanova EV, Seong IS, Cashorali T, Kohane I, Gusella JF, MacDonald ME
published in: PLoS genetics
information resource reference: Unbiased gene expression analysis implicates the huntingtin polyglutamine tract in extra-mitochondrial energy metabolism. PLoS Genet. 2007 Aug; 3(8):e135.
journal title abbreviation: PLoS Genet
publication date: 2007-06-27T00:00:00
year: 2007
type: Academic Article
type: Article
type: Document
type: Information Resource

Copy number variation in familial Parkinson disease.
PubMed Identifier: 21829596
author list: Pankratz N, Dumitriu A, Hetrick KN, Sun M, Latourelle JC, Wilk JB, Halter C, Doheny KF, Gusella JF, Nichols WC, Myers RH, Foroud T, DeStefano AL
published in: PloS one
information resource reference: Copy number variation in familial Parkinson disease. PLoS One. 2011; 6(8):e20988.
journal title abbreviation: PLoS One
publication date: 2011-08-02T00:00:00
year: 2011
type: Academic Article
type: Article
type: Document
type: Information Resource

Assessment of 2q23.1 microdeletion syndrome implicates MBD5 as a single causal locus of intellectual disability, epilepsy, and autism spectrum disorder.
PubMed Identifier: 21981781
author list: Talkowski ME, Mullegama SV, Rosenfeld JA, van Bon BW, Shen Y, Repnikova EA, Gastier-Foster J, Thrush DL, Kathiresan S, Ruderfer DM, Chiang C, Hanscom C, Ernst C, Lindgren AM, Morton CC, An Y, Astbury C, Brueton LA, Lichtenbelt KD, Ades LC, Fichera M, Romano C, Innis JW, Williams CA, Bartholomew D, Van Allen MI, Parikh A, Zhang L, Wu BL, Pyatt RE, Schwartz S, Shaffer LG, de Vries BB, Gusella JF, Elsea SH
published in: American journal of human genetics
information resource reference: Assessment of 2q23.1 microdeletion syndrome implicates MBD5 as a single causal locus of intellectual disability, epilepsy, and autism spectrum disorder. Am J Hum Genet. 2011 Oct 07; 89(4):551-63.
journal title abbreviation: Am J Hum Genet
publication date: 2011-10-07T00:00:00
year: 2011
type: Academic Article
type: Article
type: Document
type: Information Resource

Complex patterns of linkage disequilibrium in the Huntington disease region.
PubMed Identifier: 1680285
author list: MacDonald ME, Lin C, Srinidhi L, Bates G, Altherr M, Whaley WL, Lehrach H, Wasmuth J, Gusella JF
published in: American journal of human genetics
information resource reference: Complex patterns of linkage disequilibrium in the Huntington disease region. Am J Hum Genet. 1991 Oct; 49(4):723-34.
journal title abbreviation: Am J Hum Genet
publication date: 1991-10-01T00:00:00
year: 1991
type: Academic Article
type: Article
type: Document
type: Information Resource

Next-generation sequencing strategies enable routine detection of balanced chromosome rearrangements for clinical diagnostics and genetic research.
PubMed Identifier: 21473983
author list: Talkowski ME, Ernst C, Heilbut A, Chiang C, Hanscom C, Lindgren A, Kirby A, Liu S, Muddukrishna B, Ohsumi TK, Shen Y, Borowsky M, Daly MJ, Morton CC, Gusella JF
published in: American journal of human genetics
information resource reference: Next-generation sequencing strategies enable routine detection of balanced chromosome rearrangements for clinical diagnostics and genetic research. Am J Hum Genet. 2011 Apr 08; 88(4):469-81.
journal title abbreviation: Am J Hum Genet
publication date: 2011-04-08T00:00:00
year: 2011
type: Academic Article
type: Article
type: Document
type: Information Resource

Genetic linkage of bilateral acoustic neurofibromatosis to a DNA marker on chromosome 22.
PubMed Identifier: 2888021
author list: Rouleau GA, Wertelecki W, Haines JL, Hobbs WJ, Trofatter JA, Seizinger BR, Martuza RL, Superneau DW, Conneally PM, Gusella JF
published in: Nature
information resource reference: Genetic linkage of bilateral acoustic neurofibromatosis to a DNA marker on chromosome 22. Nature. 1987 Sep 17-23; 329(6136):246-8.
journal title abbreviation: Nature
publication date: 1987-09-01T00:00:00
year: 1987
type: Academic Article
type: Article
type: Document
type: Information Resource

Molecular and cytogenetic characterization of a de novo t(5p;21q) in a patient previously diagnosed as monosomy 21.
PubMed Identifier: 2902789
author list: Phelan MC, Morton CC, Stevenson RE, Tanzi RE, Stewart GD, Watkins PC, Gusella JF, Amos JA
published in: American journal of human genetics
information resource reference: Molecular and cytogenetic characterization of a de novo t(5p;21q) in a patient previously diagnosed as monosomy 21. Am J Hum Genet. 1988 Oct; 43(4):511-9.
journal title abbreviation: Am J Hum Genet
publication date: 1988-10-01T00:00:00
year: 1988
type: Academic Article
type: Article
type: Document
type: Information Resource

Loss of chromosome 22 alleles in human sporadic spinal schwannomas.
PubMed Identifier: 2012386
author list: Fontaine B, Hanson MP, VonSattel JP, Martuza RL, Gusella JF
published in: Annals of neurology
information resource reference: Loss of chromosome 22 alleles in human sporadic spinal schwannomas. Ann Neurol. 1991 Feb; 29(2):183-6.
journal title abbreviation: Ann Neurol
publication date: 1991-02-01T00:00:00
year: 1991
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 11724
type: Authorship
author rank in publication: 2
linked author: Gusella, James
linked information resource: Molecular pathology of gyrate atrophy of the choroid and retina due to ornithine aminotransferase deficiency.

Authorship 110622
type: Authorship
author rank in publication: 13
linked author: Gusella, James
linked information resource: A novel approach to investigate tissue-specific trinucleotide repeat instability.

Human chromosome 7: DNA sequence and biology.
PubMed Identifier: 12690205
author list: Scherer SW, Cheung J, MacDonald JR, Osborne LR, Nakabayashi K, Herbrick JA, Carson AR, Parker-Katiraee L, Skaug J, Khaja R, Zhang J, Hudek AK, Li M, Haddad M, Duggan GE, Fernandez BA, Kanematsu E, Gentles S, Christopoulos CC, Choufani S, Kwasnicka D, Zheng XH, Lai Z, Nusskern D, Zhang Q, Gu Z, Lu F, Zeesman S, Nowaczyk MJ, Teshima I, Chitayat D, Shuman C, Weksberg R, Zackai EH, Grebe TA, Cox SR, Kirkpatrick SJ, Rahman N, Friedman JM, Heng HH, Pelicci PG, Lo-Coco F, Belloni E, Shaffer LG, Pober B, Morton CC, Gusella JF, Bruns GA, Korf BR, Quade BJ, Ligon AH, Ferguson H, Higgins AW, Leach NT, Herrick SR, Lemyre E, Farra CG, Kim HG, Summers AM, Gripp KW, Roberts W, Szatmari P, Winsor EJ, Grzeschik KH, Teebi A, Minassian BA, Kere J, Armengol L, Pujana MA, Estivill X, Wilson MD, Koop BF, Tosi S, Moore GE, Boright AP, Zlotorynski E, Kerem B, Kroisel PM, Petek E, Oscier DG, Mould SJ, Döhner H, Döhner K, Rommens JM, Vincent JB, Venter JC, Li PW, Mural RJ, Adams MD, Tsui LC
published in: Science (New York, N.Y.)
information resource reference: Human chromosome 7: DNA sequence and biology. Science. 2003 May 02; 300(5620):767-72.
journal title abbreviation: Science
publication date: 2003-04-10T00:00:00
year: 2003
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 1074574
type: Authorship
author rank in publication: 16
linked author: Gusella, James
linked information resource: Traditional and systems biology based drug discovery for the rare tumor syndrome neurofibromatosis type 2.

Traditional and systems biology based drug discovery for the rare tumor syndrome neurofibromatosis type 2.
PubMed Identifier: 29897904
author list: Allaway R, Angus SP, Beauchamp RL, Blakeley JO, Bott M, Burns SS, Carlstedt A, Chang LS, Chen X, Clapp DW, Desouza PA, Erdin S, Fernandez-Valle C, Guinney J, Gusella JF, Haggarty SJ, Johnson GL, La Rosa S, Morrison H, Petrilli AM, Plotkin SR, Pratap A, Ramesh V, Sciaky N, Stemmer-Rachamimov A, Stuhlmiller TJ, Talkowski ME, Welling DB, Yates CW, Zawistowski JS, Zhao WN
published in: PloS one
information resource reference: Traditional and systems biology based drug discovery for the rare tumor syndrome neurofibromatosis type 2. PLoS One. 2018; 13(6):e0197350.
journal title abbreviation: PLoS One
publication date: 2018-06-13T00:00:00
year: 2018
type: Academic Article
type: Article
type: Document
type: Information Resource

A molecular genetic approach to Huntington's disease.
PubMed Identifier: 2968633
author list: Gusella JF, Wexler NS, Conneally PM
published in: Research publications - Association for Research in Nervous and Mental Disease
information resource reference: A molecular genetic approach to Huntington's disease. Res Publ Assoc Res Nerv Ment Dis. 1987; 65:133-41.
journal title abbreviation: Res Publ Assoc Res Nerv Ment Dis
publication date: 1987-01-01T00:00:00
year: 1987
type: Academic Article
type: Article
type: Document
type: Information Resource

Genetic linkage between Huntington's disease and the DNA polymorphism G8 in South Wales families.
PubMed Identifier: 3001311
author list: Harper PS, Youngman S, Anderson MA, Sarfarazi M, Quarrell O, Tanzi R, Shaw D, Wallace P, Conneally PM, Gusella JF
published in: Journal of medical genetics
information resource reference: Genetic linkage between Huntington's disease and the DNA polymorphism G8 in South Wales families. J Med Genet. 1985 Dec; 22(6):447-50.
journal title abbreviation: J Med Genet
publication date: 1985-12-01T00:00:00
year: 1985
type: Academic Article
type: Article
type: Document
type: Information Resource

Report of the Committee on the Genetic Constitution of Chromosomes 3 and 4.
PubMed Identifier: 3864591
author list: Kidd KK, Gusella J
published in: Cytogenetics and cell genetics
information resource reference: Report of the Committee on the Genetic Constitution of Chromosomes 3 and 4. Cytogenet Cell Genet. 1985; 40(1-4):107-27.
journal title abbreviation: Cytogenet Cell Genet
publication date: 1985-01-01T00:00:00
year: 1985
type: Academic Article
type: Article
type: Document
type: Information Resource

Modification of the Na+ current conducted by the rat skeletal muscle alpha subunit by coexpression with a human brain beta subunit.
PubMed Identifier: 7683789
author list: Cannon SC, McClatchey AI, Gusella JF
published in: Pflugers Archiv : European journal of physiology
information resource reference: Modification of the Na+ current conducted by the rat skeletal muscle alpha subunit by coexpression with a human brain beta subunit. Pflugers Arch. 1993 Apr; 423(1-2):155-7.
journal title abbreviation: Pflugers Arch
publication date: 1993-04-01T00:00:00
year: 1993
type: Academic Article
type: Article
type: Document
type: Information Resource

The CEPH consortium linkage map of human chromosome 16.
PubMed Identifier: 7774955
author list: Kozman HM, Keith TP, Donis-Keller H, White RL, Weissenbach J, Dean M, Vergnaud G, Kidd K, Gusella J, Royle NJ
published in: Genomics
information resource reference: The CEPH consortium linkage map of human chromosome 16. Genomics. 1995 Jan 01; 25(1):44-58.
journal title abbreviation: Genomics
publication date: 1995-01-01T00:00:00
year: 1995
type: Academic Article
type: Article
type: Document
type: Information Resource

Longitudinal neuropsychological and genetic linkage analysis of persons at risk for Huntington's disease.
PubMed Identifier: 7826277
author list: Giordani B, Berent S, Boivin MJ, Penney JB, Lehtinen S, Markel DS, Hollingsworth Z, Butterbaugh G, Hichwa RD, Gusella JF
published in: Archives of neurology
information resource reference: Longitudinal neuropsychological and genetic linkage analysis of persons at risk for Huntington's disease. Arch Neurol. 1995 Jan; 52(1):59-64.
journal title abbreviation: Arch Neurol
publication date: 1995-01-01T00:00:00
year: 1995
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 104848
type: Authorship
author rank in publication: 27
linked author: Gusella, James
linked information resource: Interaction of normal and expanded CAG repeat sizes influences age at onset of Huntington disease.

Molecular genetics of Huntington's disease.
PubMed Identifier: 2884064
author list: Gusella JF, Gilliam TC, Tanzi RE, MacDonald ME, Cheng SV, Wallace M, Haines J, Conneally PM, Wexler NS
published in: Cold Spring Harbor symposia on quantitative biology
information resource reference: Molecular genetics of Huntington's disease. Cold Spring Harb Symp Quant Biol. 1986; 51 Pt 1:359-64.
journal title abbreviation: Cold Spring Harb Symp Quant Biol
publication date: 1986-01-01T00:00:00
year: 1986
type: Academic Article
type: Article
type: Document
type: Information Resource

Common SNP-based haplotype analysis of the 4p16.3 Huntington disease gene region.
PubMed Identifier: 22387017
author list: Lee JM, Gillis T, Mysore JS, Ramos EM, Myers RH, Hayden MR, Morrison PJ, Nance M, Ross CA, Margolis RL, Squitieri F, Griguoli A, Di Donato S, Gomez-Tortosa E, Ayuso C, Suchowersky O, Trent RJ, McCusker E, Novelletto A, Frontali M, Jones R, Ashizawa T, Frank S, Saint-Hilaire MH, Hersch SM, Rosas HD, Lucente D, Harrison MB, Zanko A, Abramson RK, Marder K, Sequeiros J, MacDonald ME, Gusella JF
published in: American journal of human genetics
information resource reference: Common SNP-based haplotype analysis of the 4p16.3 Huntington disease gene region. Am J Hum Genet. 2012 Mar 09; 90(3):434-44.
journal title abbreviation: Am J Hum Genet
publication date: 2012-03-01T00:00:00
year: 2012
type: Academic Article
type: Article
type: Document
type: Information Resource

Prevalence of Huntington's disease gene CAG repeat alleles in sporadic amyotrophic lateral sclerosis patients.
PubMed Identifier: 22409360
author list: Ramos EM, Keagle P, Gillis T, Lowe P, Mysore JS, Leclerc AL, Ratti A, Ticozzi N, Gellera C, Gusella JF, Silani V, Alonso I, Brown RH, MacDonald ME, Landers JE
published in: Amyotrophic lateral sclerosis : official publication of the World Federation of Neurology Research Group on Motor Neuron Diseases
information resource reference: Prevalence of Huntington's disease gene CAG repeat alleles in sporadic amyotrophic lateral sclerosis patients. Amyotroph Lateral Scler. 2012 May; 13(3):265-9.
journal title abbreviation: Amyotroph Lateral Scler
publication date: 2012-03-13T00:00:00
year: 2012
type: Academic Article
type: Article
type: Document
type: Information Resource

Expression of SMARCB1 (INI1) mutations in familial schwannomatosis.
PubMed Identifier: 22949514
author list: Smith MJ, Walker JA, Shen Y, Stemmer-Rachamimov A, Gusella JF, Plotkin SR
published in: Human molecular genetics
information resource reference: Expression of SMARCB1 (INI1) mutations in familial schwannomatosis. Hum Mol Genet. 2012 Dec 15; 21(24):5239-45.
journal title abbreviation: Hum Mol Genet
publication date: 2012-09-04T00:00:00
year: 2012
type: Academic Article
type: Article
type: Document
type: Information Resource

Generation and characterization of irradiation hybrids of human chromosome 4.
PubMed Identifier: 1837181
author list: Doucette-Stamm LA, Riba L, Handelin B, Difilippantonio M, Ward DC, Wasmuth JJ, Gusella JF, Housman DE
published in: Somatic cell and molecular genetics
information resource reference: Generation and characterization of irradiation hybrids of human chromosome 4. Somat Cell Mol Genet. 1991 Sep; 17(5):471-80.
journal title abbreviation: Somat Cell Mol Genet
publication date: 1991-09-01T00:00:00
year: 1991
type: Academic Article
type: Article
type: Document
type: Information Resource

A haplotype at the PARK3 locus influences onset age for Parkinson's disease: the GenePD study.
PubMed Identifier: 14663042
author list: Karamohamed S, DeStefano AL, Wilk JB, Shoemaker CM, Golbe LI, Mark MH, Lazzarini AM, Suchowersky O, Labelle N, Guttman M, Currie LJ, Wooten GF, Stacy M, Saint-Hilaire M, Feldman RG, Sullivan KM, Xu G, Watts R, Growdon J, Lew M, Waters C, Vieregge P, Pramstaller PP, Klein C, Racette BA, Perlmutter JS, Parsian A, Singer C, Montgomery E, Baker K, Gusella JF, Fink SJ, Myers RH, Herbert A
published in: Neurology
information resource reference: A haplotype at the PARK3 locus influences onset age for Parkinson's disease: the GenePD study. Neurology. 2003 Dec 09; 61(11):1557-61.
journal title abbreviation: Neurology
publication date: 2003-12-09T00:00:00
year: 2003
type: Academic Article
type: Article
type: Document
type: Information Resource

The NF2 tumor suppressor Merlin and the ERM proteins interact with N-WASP and regulate its actin polymerization function.
PubMed Identifier: 15699051
author list: Manchanda N, Lyubimova A, Ho HY, James MF, Gusella JF, Ramesh N, Snapper SB, Ramesh V
published in: The Journal of biological chemistry
information resource reference: The NF2 tumor suppressor Merlin and the ERM proteins interact with N-WASP and regulate its actin polymerization function. J Biol Chem. 2005 Apr 01; 280(13):12517-22.
journal title abbreviation: J Biol Chem
publication date: 2005-02-07T00:00:00
year: 2005
type: Academic Article
type: Article
type: Document
type: Information Resource

Magicin associates with the Src-family kinases and is phosphorylated upon CD3 stimulation.
PubMed Identifier: 16899217
author list: Lee MF, Beauchamp RL, Beyer KS, Gusella JF, Ramesh V
published in: Biochemical and biophysical research communications
information resource reference: Magicin associates with the Src-family kinases and is phosphorylated upon CD3 stimulation. Biochem Biophys Res Commun. 2006 Sep 29; 348(3):826-31.
journal title abbreviation: Biochem Biophys Res Commun
publication date: 2006-07-31T00:00:00
year: 2006
type: Academic Article
type: Article
type: Document
type: Information Resource

Detailed genetic linkage map of human chromosome 21: patterns of recombination according to age and sex.
PubMed Identifier: 2247506
author list: Tanzi RE, Haines JL, Gusella JF
published in: Progress in clinical and biological research
information resource reference: Detailed genetic linkage map of human chromosome 21: patterns of recombination according to age and sex. Prog Clin Biol Res. 1990; 360:15-26.
journal title abbreviation: Prog Clin Biol Res
publication date: 1990-01-01T00:00:00
year: 1990
type: Academic Article
type: Article
type: Document
type: Information Resource

Inhibition by dexamethasone of commitment to erythroid differentiation in murine erythroleukemia cells.
PubMed Identifier: 289436
author list: Tsiftsoglou AS, Gusella JF, Volloch V, Housman DE
published in: Cancer research
information resource reference: Inhibition by dexamethasone of commitment to erythroid differentiation in murine erythroleukemia cells. Cancer Res. 1979 Oct; 39(10):3849-55.
journal title abbreviation: Cancer Res
publication date: 1979-10-01T00:00:00
year: 1979
type: Academic Article
type: Article
type: Document
type: Information Resource

NF2/merlin is a novel negative regulator of mTOR complex 1, and activation of mTORC1 is associated with meningioma and schwannoma growth.
PubMed Identifier: 19451225
author list: James MF, Han S, Polizzano C, Plotkin SR, Manning BD, Stemmer-Rachamimov AO, Gusella JF, Ramesh V
published in: Molecular and cellular biology
information resource reference: NF2/merlin is a novel negative regulator of mTOR complex 1, and activation of mTORC1 is associated with meningioma and schwannoma growth. Mol Cell Biol. 2009 Aug; 29(15):4250-61.
journal title abbreviation: Mol Cell Biol
publication date: 2009-05-18T00:00:00
year: 2009
type: Academic Article
type: Article
type: Document
type: Information Resource

Genomewide association study for onset age in Parkinson disease.
PubMed Identifier: 19772629
author list: Latourelle JC, Pankratz N, Dumitriu A, Wilk JB, Goldwurm S, Pezzoli G, Mariani CB, DeStefano AL, Halter C, Gusella JF, Nichols WC, Myers RH, Foroud T
published in: BMC medical genetics
information resource reference: Genomewide association study for onset age in Parkinson disease. BMC Med Genet. 2009 Sep 22; 10:98.
journal title abbreviation: BMC Med Genet
publication date: 2009-09-22T00:00:00
year: 2009
type: Academic Article
type: Article
type: Document
type: Information Resource

Location cloning strategy for characterizing genetic defects in Huntington's disease and Alzheimer's disease.
PubMed Identifier: 2568302
author list: Gusella JF
published in: FASEB journal : official publication of the Federation of American Societies for Experimental Biology
information resource reference: Location cloning strategy for characterizing genetic defects in Huntington's disease and Alzheimer's disease. FASEB J. 1989 Jul; 3(9):2036-41.
journal title abbreviation: FASEB J
publication date: 1989-07-01T00:00:00
year: 1989
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 1078879
type: Authorship
author rank in publication: 11
linked author: Gusella, James
linked information resource: EPH receptor signaling as a novel therapeutic target in NF2-deficient meningioma.

Authorship 1080629
type: Authorship
author rank in publication: 15
linked author: Gusella, James
linked information resource: Opposing Tumor-Promoting and -Suppressive Functions of Rictor/mTORC2 Signaling in Adult Glioma and Pediatric SHH Medulloblastoma.

Opposing Tumor-Promoting and -Suppressive Functions of Rictor/mTORC2 Signaling in Adult Glioma and Pediatric SHH Medulloblastoma.
PubMed Identifier: 29996106
author list: Akgül S, Li Y, Zheng S, Kool M, Treisman DM, Li C, Wang Y, Gröbner S, Ikenoue T, Shen Y, Camelo-Piragua S, Tomasek G, Stark S, Guduguntla V, Gusella JF, Guan KL, Pfister SM, Verhaak RGW, Zhu Y
published in: Cell reports
information resource reference: Opposing Tumor-Promoting and -Suppressive Functions of Rictor/mTORC2 Signaling in Adult Glioma and Pediatric SHH Medulloblastoma. Cell Rep. 2018 07 10; 24(2):463-478.e5.
journal title abbreviation: Cell Rep
publication date: 2018-07-10T00:00:00
year: 2018
type: Academic Article
type: Article
type: Document
type: Information Resource

EPH receptor signaling as a novel therapeutic target in NF2-deficient meningioma.
PubMed Identifier: 29982664
author list: Angus SP, Oblinger JL, Stuhlmiller TJ, DeSouza PA, Beauchamp RL, Witt L, Chen X, Jordan JT, Gilbert TSK, Stemmer-Rachamimov A, Gusella JF, Plotkin SR, Haggarty SJ, Chang LS, Johnson GL, Ramesh V
published in: Neuro-oncology
information resource reference: EPH receptor signaling as a novel therapeutic target in NF2-deficient meningioma. Neuro Oncol. 2018 08 02; 20(9):1185-1196.
journal title abbreviation: Neuro Oncol
publication date: 2018-08-02T00:00:00
year: 2018
type: Academic Article
type: Article
type: Document
type: Information Resource

A somatic cell hybrid panel for localizing DNA segments near the Huntington's disease gene.
PubMed Identifier: 2889660
author list: MacDonald ME, Anderson MA, Gilliam TC, Tranejaerg L, Carpenter NJ, Magenis E, Hayden MR, Healey ST, Bonner TI, Gusella JF
published in: Genomics
information resource reference: A somatic cell hybrid panel for localizing DNA segments near the Huntington's disease gene. Genomics. 1987 Sep; 1(1):29-34.
journal title abbreviation: Genomics
publication date: 1987-09-01T00:00:00
year: 1987
type: Academic Article
type: Article
type: Document
type: Information Resource

Chromosome jumping from D4S10 (G8) toward the Huntington disease gene.
PubMed Identifier: 2901098
author list: Richards JE, Gilliam TC, Cole JL, Drumm ML, Wasmuth JJ, Gusella JF, Collins FS
published in: Proceedings of the National Academy of Sciences of the United States of America
information resource reference: Chromosome jumping from D4S10 (G8) toward the Huntington disease gene. Proc Natl Acad Sci U S A. 1988 Sep; 85(17):6437-41.
journal title abbreviation: Proc Natl Acad Sci U S A
publication date: 1988-09-01T00:00:00
year: 1988
type: Academic Article
type: Article
type: Document
type: Information Resource

Amyloid beta protein gene: cDNA, mRNA distribution, and genetic linkage near the Alzheimer locus.
PubMed Identifier: 2949367
author list: Tanzi RE, Gusella JF, Watkins PC, Bruns GA, St George-Hyslop P, Van Keuren ML, Patterson D, Pagan S, Kurnit DM, Neve RL
published in: Science (New York, N.Y.)
information resource reference: Amyloid beta protein gene: cDNA, mRNA distribution, and genetic linkage near the Alzheimer locus. Science. 1987 Feb 20; 235(4791):880-4.
journal title abbreviation: Science
publication date: 1987-02-20T00:00:00
year: 1987
type: Academic Article
type: Article
type: Document
type: Information Resource

Molecular genetic approach to human meningioma: loss of genes on chromosome 22.
PubMed Identifier: 3037550
author list: Seizinger BR, de la Monte S, Atkins L, Gusella JF, Martuza RL
published in: Proceedings of the National Academy of Sciences of the United States of America
information resource reference: Molecular genetic approach to human meningioma: loss of genes on chromosome 22. Proc Natl Acad Sci U S A. 1987 Aug; 84(15):5419-23.
journal title abbreviation: Proc Natl Acad Sci U S A
publication date: 1987-08-01T00:00:00
year: 1987
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 1085644
type: Authorship
author rank in publication: 6
linked author: Gusella, James
linked information resource: A rare exonic NRXN3 deletion segregating with neurodevelopmental and neuropsychiatric conditions in a three-generation Chinese family.

A rare exonic NRXN3 deletion segregating with neurodevelopmental and neuropsychiatric conditions in a three-generation Chinese family.
PubMed Identifier: 30076746
author list: Yuan H, Wang Q, Liu Y, Yang W, He Y, Gusella JF, Song J, Shen Y
published in: American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics
information resource reference: A rare exonic NRXN3 deletion segregating with neurodevelopmental and neuropsychiatric conditions in a three-generation Chinese family. Am J Med Genet B Neuropsychiatr Genet. 2018 09; 177(6):589-595.
journal title abbreviation: Am J Med Genet B Neuropsychiatr Genet
publication date: 2018-08-04T00:00:00
year: 2018
type: Academic Article
type: Article
type: Document
type: Information Resource

Valuable libraries.
PubMed Identifier: 3821885
author list: Davies KE, Gusella JF, Tsui LC, Williamson R, Page DC, Ferguson-Smith MA
published in: Nature
information resource reference: Valuable libraries. Nature. 1987 Mar 12-18; 326(6109):124.
journal title abbreviation: Nature
publication date: 1987-03-01T00:00:00
year: 1987
type: Academic Article
type: Article
type: Document
type: Information Resource

Exon scanning for mutations of the NF2 gene in pediatric ependymomas, rhabdoid tumors and meningiomas.
PubMed Identifier: 7657387
author list: Slavc I, MacCollin MM, Dunn M, Jones S, Sutton L, Gusella JF, Biegel JA
published in: International journal of cancer
information resource reference: Exon scanning for mutations of the NF2 gene in pediatric ependymomas, rhabdoid tumors and meningiomas. Int J Cancer. 1995 Aug 22; 64(4):243-7.
journal title abbreviation: Int J Cancer
publication date: 1995-08-22T00:00:00
year: 1995
type: Academic Article
type: Article
type: Document
type: Information Resource

MTS1/CDKN2 gene mutations are rare in primary human astrocytomas with allelic loss of chromosome 9p.
PubMed Identifier: 7849711
author list: Ueki K, Rubio MP, Ramesh V, Correa KM, Rutter JL, von Deimling A, Buckler AJ, Gusella JF, Louis DN
published in: Human molecular genetics
information resource reference: MTS1/CDKN2 gene mutations are rare in primary human astrocytomas with allelic loss of chromosome 9p. Hum Mol Genet. 1994 Oct; 3(10):1841-5.
journal title abbreviation: Hum Mol Genet
publication date: 1994-10-01T00:00:00
year: 1994
type: Academic Article
type: Article
type: Document
type: Information Resource

Discrepancy resolved.
PubMed Identifier: 8110292
author list: Myers RH, MacDonald ME, Gusella JF
published in: Nature genetics
information resource reference: Discrepancy resolved. Nat Genet. 1993 Nov; 5(3):215.
journal title abbreviation: Nat Genet
publication date: 1993-11-01T00:00:00
year: 1993
type: Academic Article
type: Article
type: Document
type: Information Resource

An index marker map of chromosome 9 provides strong evidence for positive interference.
PubMed Identifier: 8250044
author list: Kwiatkowski DJ, Dib C, Slaugenhaupt SA, Povey S, Gusella JF, Haines JL
published in: American journal of human genetics
information resource reference: An index marker map of chromosome 9 provides strong evidence for positive interference. Am J Hum Genet. 1993 Dec; 53(6):1279-88.
journal title abbreviation: Am J Hum Genet
publication date: 1993-12-01T00:00:00
year: 1993
type: Academic Article
type: Article
type: Document
type: Information Resource

Localization of juvenile, but not late-infantile, neuronal ceroid lipofuscinosis on chromosome 16.
PubMed Identifier: 8434611
author list: Yan W, Boustany RM, Konradi C, Ozelius L, Lerner T, Trofatter JA, Julier C, Breakefield XO, Gusella JF, Haines JL
published in: American journal of human genetics
information resource reference: Localization of juvenile, but not late-infantile, neuronal ceroid lipofuscinosis on chromosome 16. Am J Hum Genet. 1993 Jan; 52(1):89-95.
journal title abbreviation: Am J Hum Genet
publication date: 1993-01-01T00:00:00
year: 1993
type: Academic Article
type: Article
type: Document
type: Information Resource

A set of STS assays targeting the chromosome 22 physical framework markers.
PubMed Identifier: 8468063
author list: MacCollin M, Romano D, Budarf M, Denny C, Trofatter J, Menon A, Rouleau G, Fontaine B, Emanuel B, Gusella J
published in: Genomics
information resource reference: A set of STS assays targeting the chromosome 22 physical framework markers. Genomics. 1993 Mar; 15(3):680-3.
journal title abbreviation: Genomics
publication date: 1993-03-01T00:00:00
year: 1993
type: Academic Article
type: Article
type: Document
type: Information Resource

Dinucleotide repeat polymorphism in the Huntington's disease region at the D4S182 locus.
PubMed Identifier: 8504314
author list: Tagle DA, Blanchard-McQuate KL, Valdes J, Castilla L, MacDonald ME, Gusella JF, Collins FS
published in: Human molecular genetics
information resource reference: Dinucleotide repeat polymorphism in the Huntington's disease region at the D4S182 locus. Hum Mol Genet. 1993 Apr; 2(4):489.
journal title abbreviation: Hum Mol Genet
publication date: 1993-04-01T00:00:00
year: 1993
type: Academic Article
type: Article
type: Document
type: Information Resource

Expanding the notion of disease in Huntington's disease.
PubMed Identifier: 18054536
author list: Gusella JF, MacDonald ME
published in: Biological psychiatry
information resource reference: Expanding the notion of disease in Huntington's disease. Biol Psychiatry. 2007 Dec 15; 62(12):1340.
journal title abbreviation: Biol Psychiatry
publication date: 2007-12-15T00:00:00
year: 2007
type: Academic Article
type: Article
type: Document
type: Information Resource

Relative argininosuccinate synthetase mRNA levels and gene copy number in canavanine-resistant lymphoblasts.
PubMed Identifier: 6733108
author list: Amos JA, Fleming BC, Gusella JF, Jacoby LB
published in: Biochimica et biophysica acta
information resource reference: Relative argininosuccinate synthetase mRNA levels and gene copy number in canavanine-resistant lymphoblasts. Biochim Biophys Acta. 1984 Jul 18; 782(3):247-53.
journal title abbreviation: Biochim Biophys Acta
publication date: 1984-07-18T00:00:00
year: 1984
type: Academic Article
type: Article
type: Document
type: Information Resource

Synteny conservation of the Huntington's disease gene and surrounding loci on mouse Chromosome 5.
PubMed Identifier: 7919654
author list: Grosson CL, MacDonald ME, Duyao MP, Ambrose CM, Roffler-Tarlov S, Gusella JF
published in: Mammalian genome : official journal of the International Mammalian Genome Society
information resource reference: Synteny conservation of the Huntington's disease gene and surrounding loci on mouse Chromosome 5. Mamm Genome. 1994 Jul; 5(7):424-8.
journal title abbreviation: Mamm Genome
publication date: 1994-07-01T00:00:00
year: 1994
type: Academic Article
type: Article
type: Document
type: Information Resource

The importance of genetic mosaicism in human disease.
PubMed Identifier: 7969285
author list: Bernards A, Gusella JF
published in: The New England journal of medicine
information resource reference: The importance of genetic mosaicism in human disease. N Engl J Med. 1994 Nov 24; 331(21):1447-9.
journal title abbreviation: N Engl J Med
publication date: 1994-11-24T00:00:00
year: 1994
type: Academic Article
type: Article
type: Document
type: Information Resource

MspI RFLP for human MAOA gene.
PubMed Identifier: 2481273
author list: Ozelius L, Gusella JF, Breakefield XO
published in: Nucleic acids research
information resource reference: MspI RFLP for human MAOA gene. Nucleic Acids Res. 1989 Dec 25; 17(24):10516.
journal title abbreviation: Nucleic Acids Res
publication date: 1989-12-25T00:00:00
year: 1989
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 1089261
type: Authorship
author rank in publication: 10
linked author: Gusella, James
linked information resource: Genetic Modification of Huntington Disease Acts Early in the Prediagnosis Phase.

Genetic Modification of Huntington Disease Acts Early in the Prediagnosis Phase.
PubMed Identifier: 30122542
author list: Long JD, Lee JM, Aylward EH, Gillis T, Mysore JS, Abu Elneel K, Chao MJ, Paulsen JS, MacDonald ME, Gusella JF
published in: American journal of human genetics
information resource reference: Genetic Modification of Huntington Disease Acts Early in the Prediagnosis Phase. Am J Hum Genet. 2018 09 06; 103(3):349-357.
journal title abbreviation: Am J Hum Genet
publication date: 2018-08-16T00:00:00
year: 2018
type: Academic Article
type: Article
type: Document
type: Information Resource

Self-injurious behaviours in people with and without intellectual delay: implications for the genetics of suicide.
PubMed Identifier: 19887018
author list: Ernst C, Morton CC, Gusella JF
published in: The international journal of neuropsychopharmacology
information resource reference: Self-injurious behaviours in people with and without intellectual delay: implications for the genetics of suicide. Int J Neuropsychopharmacol. 2010 May; 13(4):527-8.
journal title abbreviation: Int J Neuropsychopharmacol
publication date: 2009-11-04T00:00:00
year: 2009
type: Academic Article
type: Article
type: Document
type: Information Resource

Association of the long QT syndrome With goiter and deafness.
PubMed Identifier: 20185017
author list: Gritli S, Ben Salah M, Shili A, Robson CD, Ferjaoui M, Hendaoui L, Belhani A, Jilani SB, Gusella JF, Macrae CA
published in: The American journal of cardiology
information resource reference: Association of the long QT syndrome With goiter and deafness. Am J Cardiol. 2010 Mar 01; 105(5):681-6.
journal title abbreviation: Am J Cardiol
publication date: 2010-03-01T00:00:00
year: 2010
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 116570
type: Authorship
author rank in publication: 21
linked author: Gusella, James
linked information resource: WDR11, a WD protein that interacts with transcription factor EMX1, is mutated in idiopathic hypogonadotropic hypogonadism and Kallmann syndrome.

Physical and genetic localization of quinonoid dihydropteridine reductase gene (QDPR) on short arm of chromosome 4.
PubMed Identifier: 2889272
author list: MacDonald ME, Anderson MA, Lockyer JL, Milstien S, Hobbs WJ, Faryniarz AG, Kaufman S, Ledley FD, Woo SL, Gusella JF
published in: Somatic cell and molecular genetics
information resource reference: Physical and genetic localization of quinonoid dihydropteridine reductase gene (QDPR) on short arm of chromosome 4. Somat Cell Mol Genet. 1987 Sep; 13(5):569-74.
journal title abbreviation: Somat Cell Mol Genet
publication date: 1987-09-01T00:00:00
year: 1987
type: Academic Article
type: Article
type: Document
type: Information Resource

Protease inhibitor domain encoded by an amyloid protein precursor mRNA associated with Alzheimer's disease.
PubMed Identifier: 2893290
author list: Tanzi RE, McClatchey AI, Lamperti ED, Villa-Komaroff L, Gusella JF, Neve RL
published in: Nature
information resource reference: Protease inhibitor domain encoded by an amyloid protein precursor mRNA associated with Alzheimer's disease. Nature. 1988 Feb 11; 331(6156):528-30.
journal title abbreviation: Nature
publication date: 1988-02-11T00:00:00
year: 1988
type: Academic Article
type: Article
type: Document
type: Information Resource

Partial linkage map of chromosome 13q in the region of the Wilson disease and retinoblastoma genes.
PubMed Identifier: 2905314
author list: Haines JL, Ozelius L, St George-Hyslop P, Wexler NS, Gusella JF, Conneally PM
published in: Genetic epidemiology
information resource reference: Partial linkage map of chromosome 13q in the region of the Wilson disease and retinoblastoma genes. Genet Epidemiol. 1988; 5(6):375-80.
journal title abbreviation: Genet Epidemiol
publication date: 1988-01-01T00:00:00
year: 1988
type: Academic Article
type: Article
type: Document
type: Information Resource

Accuracy of testing for Huntington's disease.
PubMed Identifier: 2944001
author list: Gusella JF
published in: Nature
information resource reference: Accuracy of testing for Huntington's disease. Nature. 1986 Sep 11-17; 323(6084):118.
journal title abbreviation: Nature
publication date: 1986-09-01T00:00:00
year: 1986
type: Academic Article
type: Article
type: Document
type: Information Resource

KCTD13 is a major driver of mirrored neuroanatomical phenotypes of the 16p11.2 copy number variant.
PubMed Identifier: 22596160
author list: Golzio C, Willer J, Talkowski ME, Oh EC, Taniguchi Y, Jacquemont S, Reymond A, Sun M, Sawa A, Gusella JF, Kamiya A, Beckmann JS, Katsanis N
published in: Nature
information resource reference: KCTD13 is a major driver of mirrored neuroanatomical phenotypes of the 16p11.2 copy number variant. Nature. 2012 May 16; 485(7398):363-7.
journal title abbreviation: Nature
publication date: 2012-05-16T00:00:00
year: 2012
type: Academic Article
type: Article
type: Document
type: Information Resource

TAA repeat variation in the GRIK2 gene does not influence age at onset in Huntington's disease.
PubMed Identifier: 22771793
author list: Lee JH, Lee JM, Ramos EM, Gillis T, Mysore JS, Kishikawa S, Hadzi T, Hendricks AE, Hayden MR, Morrison PJ, Nance M, Ross CA, Margolis RL, Squitieri F, Gellera C, Gomez-Tortosa E, Ayuso C, Suchowersky O, Trent RJ, McCusker E, Novelletto A, Frontali M, Jones R, Ashizawa T, Frank S, Saint-Hilaire MH, Hersch SM, Rosas HD, Lucente D, Harrison MB, Zanko A, Abramson RK, Marder K, Sequeiros J, Landwehrmeyer GB, Shoulson I, Myers RH, MacDonald ME, Gusella JF
published in: Biochemical and biophysical research communications
information resource reference: TAA repeat variation in the GRIK2 gene does not influence age at onset in Huntington's disease. Biochem Biophys Res Commun. 2012 Aug 03; 424(3):404-8.
journal title abbreviation: Biochem Biophys Res Commun
publication date: 2012-07-03T00:00:00
year: 2012
type: Academic Article
type: Article
type: Document
type: Information Resource

DNA markers for nervous system diseases.
PubMed Identifier: 6089346
author list: Gusella JF, Tanzi RE, Anderson MA, Hobbs W, Gibbons K, Raschtchian R, Gilliam TC, Wallace MR, Wexler NS, Conneally PM
published in: Science (New York, N.Y.)
information resource reference: DNA markers for nervous system diseases. Science. 1984 Sep 21; 225(4668):1320-6.
journal title abbreviation: Science
publication date: 1984-09-21T00:00:00
year: 1984
type: Academic Article
type: Article
type: Document
type: Information Resource

Dissociation of hemoglobin accumulation and commitment during murine erythroleukemia cell differentiation by treatment with imidazole.
PubMed Identifier: 6957412
author list: Gusella JF, Tsiftsoglou AS, Volloch V, Weil SC, Neumann J, Housman DE
published in: Journal of cellular physiology
information resource reference: Dissociation of hemoglobin accumulation and commitment during murine erythroleukemia cell differentiation by treatment with imidazole. J Cell Physiol. 1982 Oct; 113(1):179-85.
journal title abbreviation: J Cell Physiol
publication date: 1982-10-01T00:00:00
year: 1982
type: Academic Article
type: Article
type: Document
type: Information Resource

An anti-Ras function of neurofibromatosis type 2 gene product (NF2/Merlin).
PubMed Identifier: 8089100
author list: Tikoo A, Varga M, Ramesh V, Gusella J, Maruta H
published in: The Journal of biological chemistry
information resource reference: An anti-Ras function of neurofibromatosis type 2 gene product (NF2/Merlin). J Biol Chem. 1994 Sep 23; 269(38):23387-90.
journal title abbreviation: J Biol Chem
publication date: 1994-09-23T00:00:00
year: 1994
type: Academic Article
type: Article
type: Document
type: Information Resource

Analysis of the trinucleotide repeat expansion in Italian families affected with Huntington disease.
PubMed Identifier: 8162059
author list: Novelletto A, Persichetti F, Sabbadini G, Mandich P, Bellone E, Ajmar F, Pergola M, Del Senno L, MacDonald ME, Gusella JF
published in: Human molecular genetics
information resource reference: Analysis of the trinucleotide repeat expansion in Italian families affected with Huntington disease. Hum Mol Genet. 1994 Jan; 3(1):93-8.
journal title abbreviation: Hum Mol Genet
publication date: 1994-01-01T00:00:00
year: 1994
type: Academic Article
type: Article
type: Document
type: Information Resource

Familial Alzheimer's disease: progress and problems.
PubMed Identifier: 2682321
author list: St George-Hyslop PH, Myers RH, Haines JL, Farrer LA, Tanzi RE, Abe K, James MF, Conneally PM, Polinsky RJ, Gusella JF
published in: Neurobiology of aging
information resource reference: Familial Alzheimer's disease: progress and problems. Neurobiol Aging. 1989 Sep-Oct; 10(5):417-25.
journal title abbreviation: Neurobiol Aging
publication date: 1989-09-01T00:00:00
year: 1989
type: Academic Article
type: Article
type: Document
type: Information Resource

HD CAG-correlated gene expression changes support a simple dominant gain of function.
PubMed Identifier: 21536587
author list: Jacobsen JC, Gregory GC, Woda JM, Thompson MN, Coser KR, Murthy V, Kohane IS, Gusella JF, Seong IS, MacDonald ME, Shioda T, Lee JM
published in: Human molecular genetics
information resource reference: HD CAG-correlated gene expression changes support a simple dominant gain of function. Hum Mol Genet. 2011 Jul 15; 20(14):2846-60.
journal title abbreviation: Hum Mol Genet
publication date: 2011-05-02T00:00:00
year: 2011
type: Academic Article
type: Article
type: Document
type: Information Resource

Differential effects of the Huntington's disease CAG mutation in striatum and cerebellum are quantitative not qualitative.
PubMed Identifier: 21840924
author list: Fossale E, Seong IS, Coser KR, Shioda T, Kohane IS, Wheeler VC, Gusella JF, MacDonald ME, Lee JM
published in: Human molecular genetics
information resource reference: Differential effects of the Huntington's disease CAG mutation in striatum and cerebellum are quantitative not qualitative. Hum Mol Genet. 2011 Nov 01; 20(21):4258-67.
journal title abbreviation: Hum Mol Genet
publication date: 2011-08-12T00:00:00
year: 2011
type: Academic Article
type: Article
type: Document
type: Information Resource

Linkage analyses of multiple endocrine neoplasia, type 2A (MEN-2A) with 20 DNA polymorphisms: 5% of the genome excluded.
PubMed Identifier: 2875939
author list: Kidd KK, Kidd JR, Castiglione CM, Genel M, Darby J, Cavalli-Sforza LL, Gusella JF
published in: Human heredity
information resource reference: Linkage analyses of multiple endocrine neoplasia, type 2A (MEN-2A) with 20 DNA polymorphisms: 5% of the genome excluded. Hum Hered. 1986; 36(4):243-9.
journal title abbreviation: Hum Hered
publication date: 1986-01-01T00:00:00
year: 1986
type: Academic Article
type: Article
type: Document
type: Information Resource

Huntington's disease. Pathogenesis and management.
PubMed Identifier: 2877396
author list: Martin JB, Gusella JF
published in: The New England journal of medicine
information resource reference: Huntington's disease. Pathogenesis and management. N Engl J Med. 1986 Nov 13; 315(20):1267-76.
journal title abbreviation: N Engl J Med
publication date: 1986-11-13T00:00:00
year: 1986
type: Academic Article
type: Article
type: Document
type: Information Resource

Localization of the ornithine aminotransferase gene and related sequences on two human chromosomes.
PubMed Identifier: 2886418
author list: Ramesh V, Eddy R, Bruns GA, Shih VE, Shows TB, Gusella JF
published in: Human genetics
information resource reference: Localization of the ornithine aminotransferase gene and related sequences on two human chromosomes. Hum Genet. 1987 Jun; 76(2):121-6.
journal title abbreviation: Hum Genet
publication date: 1987-06-01T00:00:00
year: 1987
type: Academic Article
type: Article
type: Document
type: Information Resource

The ornithine aminotransferase (OAT) locus: analysis of RFLPs in gyrate atrophy.
PubMed Identifier: 2893548
author list: Ramesh V, Benoit LA, Crawford P, Harvey PT, Shows TB, Shih VE, Gusella JF
published in: American journal of human genetics
information resource reference: The ornithine aminotransferase (OAT) locus: analysis of RFLPs in gyrate atrophy. Am J Hum Genet. 1988 Feb; 42(2):365-72.
journal title abbreviation: Am J Hum Genet
publication date: 1988-02-01T00:00:00
year: 1988
type: Academic Article
type: Article
type: Document
type: Information Resource

An ancient founder mutation in PROKR2 impairs human reproduction.
PubMed Identifier: 22773735
author list: Avbelj Stefanija M, Jeanpierre M, Sykiotis GP, Young J, Quinton R, Abreu AP, Plummer L, Au MG, Balasubramanian R, Dwyer AA, Florez JC, Cheetham T, Pearce SH, Purushothaman R, Schinzel A, Pugeat M, Jacobson-Dickman EE, Ten S, Latronico AC, Gusella JF, Dode C, Crowley WF, Pitteloud N
published in: Human molecular genetics
information resource reference: An ancient founder mutation in PROKR2 impairs human reproduction. Hum Mol Genet. 2012 Oct 01; 21(19):4314-24.
journal title abbreviation: Hum Mol Genet
publication date: 2012-07-05T00:00:00
year: 2012
type: Academic Article
type: Article
type: Document
type: Information Resource

Genetic linkage map for chromosome 21.
PubMed Identifier: 2990310
author list: Gusella JF, Tanzi RE, Watkins PC, Gibbons KT, Hobbs WJ, Faryniarz AG, Healey ST, Anderson MA
published in: Annals of the New York Academy of Sciences
information resource reference: Genetic linkage map for chromosome 21. Ann N Y Acad Sci. 1985; 450:25-31.
journal title abbreviation: Ann N Y Acad Sci
publication date: 1985-01-01T00:00:00
year: 1985
type: Academic Article
type: Article
type: Document
type: Information Resource

Deletion of Huntington's disease-linked G8 (D4S10) locus in Wolf-Hirschhorn syndrome.
PubMed Identifier: 2997623
author list: Gusella JF, Tanzi RE, Bader PI, Phelan MC, Stevenson R, Hayden MR, Hofman KJ, Faryniarz AG, Gibbons K
published in: Nature
information resource reference: Deletion of Huntington's disease-linked G8 (D4S10) locus in Wolf-Hirschhorn syndrome. Nature. 1985 Nov 7-13; 318(6041):75-8.
journal title abbreviation: Nature
publication date: 1985-11-01T00:00:00
year: 1985
type: Academic Article
type: Article
type: Document
type: Information Resource

Estimating the probability of de novo HD cases from transmissions of expanded penetrant CAG alleles in the Huntington disease gene from male carriers of high normal alleles (27-35 CAG).
PubMed Identifier: 19507258
author list: Hendricks AE, Latourelle JC, Lunetta KL, Cupples LA, Wheeler V, MacDonald ME, Gusella JF, Myers RH
published in: American journal of medical genetics. Part A
information resource reference: Estimating the probability of de novo HD cases from transmissions of expanded penetrant CAG alleles in the Huntington disease gene from male carriers of high normal alleles (27-35 CAG). Am J Med Genet A. 2009 Jul; 149A(7):1375-81.
journal title abbreviation: Am J Med Genet A
publication date: 2009-07-01T00:00:00
year: 2009
type: Academic Article
type: Article
type: Document
type: Information Resource

Large-scale medical resequencing for X-linked mental retardation.
PubMed Identifier: 20040618
author list: Shen Y, Wu BL, Gusella JF
published in: Clinical chemistry
information resource reference: Large-scale medical resequencing for X-linked mental retardation. Clin Chem. 2010 Mar; 56(3):339-41.
journal title abbreviation: Clin Chem
publication date: 2009-12-29T00:00:00
year: 2009
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 119364
type: Authorship
author rank in publication: 2
linked author: Gusella, James
linked information resource: Changing models of biomedical research.

Isolation of polymorphic DNA fragments from human chromosome 4.
PubMed Identifier: 2881276
author list: Gilliam TC, Healey ST, MacDonald ME, Stewart GD, Wasmuth JJ, Tanzi RE, Roy JC, Gusella JF
published in: Nucleic acids research
information resource reference: Isolation of polymorphic DNA fragments from human chromosome 4. Nucleic Acids Res. 1987 Feb 25; 15(4):1445-58.
journal title abbreviation: Nucleic Acids Res
publication date: 1987-02-25T00:00:00
year: 1987
type: Academic Article
type: Article
type: Document
type: Information Resource

D22S15--a fetal brain cDNA with BanII and SacI RFLP.
PubMed Identifier: 2894636
author list: Rouleau GA, Kurnit DM, Neve RL, Bazanowsky A, Patterson D, Gusella JF
published in: Nucleic acids research
information resource reference: D22S15--a fetal brain cDNA with BanII and SacI RFLP. Nucleic Acids Res. 1988 Feb 25; 16(4):1646.
journal title abbreviation: Nucleic Acids Res
publication date: 1988-02-25T00:00:00
year: 1988
type: Academic Article
type: Article
type: Document
type: Information Resource

A DNA probe, D5 [D4S90] mapping to human chromosome 4p16.3.
PubMed Identifier: 2894638
author list: Youngman S, Shaw DJ, Gusella JF, MacDonald M, Stanbridge EJ, Wasmuth J, Harper PS
published in: Nucleic acids research
information resource reference: A DNA probe, D5 [D4S90] mapping to human chromosome 4p16.3. Nucleic Acids Res. 1988 Feb 25; 16(4):1648.
journal title abbreviation: Nucleic Acids Res
publication date: 1988-02-25T00:00:00
year: 1988
type: Academic Article
type: Article
type: Document
type: Information Resource

Haploinsufficiency of SOX5 at 12p12.1 is associated with developmental delays with prominent language delay, behavior problems, and mild dysmorphic features.
PubMed Identifier: 22290657
author list: Lamb AN, Rosenfeld JA, Neill NJ, Talkowski ME, Blumenthal I, Girirajan S, Keelean-Fuller D, Fan Z, Pouncey J, Stevens C, Mackay-Loder L, Terespolsky D, Bader PI, Rosenbaum K, Vallee SE, Moeschler JB, Ladda R, Sell S, Martin J, Ryan S, Jones MC, Moran R, Shealy A, Madan-Khetarpal S, McConnell J, Surti U, Delahaye A, Heron-Longe B, Pipiras E, Benzacken B, Passemard S, Verloes A, Isidor B, Le Caignec C, Glew GM, Opheim KE, Descartes M, Eichler EE, Morton CC, Gusella JF, Schultz RA, Ballif BC, Shaffer LG
published in: Human mutation
information resource reference: Haploinsufficiency of SOX5 at 12p12.1 is associated with developmental delays with prominent language delay, behavior problems, and mild dysmorphic features. Hum Mutat. 2012 Apr; 33(4):728-40.
journal title abbreviation: Hum Mutat
publication date: 2012-04-01T00:00:00
year: 2012
type: Academic Article
type: Article
type: Document
type: Information Resource

The ornithine aminotransferase (OAT) locus is linked and distal to D10S20 on the long arm of chromosome 10.
PubMed Identifier: 3197452
author list: Wu J, Ramesh V, Kidd JR, Castiglione CM, Myers S, Carson N, Anderson L, Gusella JF, Simpson NE, Kidd KK
published in: Cytogenetics and cell genetics
information resource reference: The ornithine aminotransferase (OAT) locus is linked and distal to D10S20 on the long arm of chromosome 10. Cytogenet Cell Genet. 1988; 48(2):126-7.
journal title abbreviation: Cytogenet Cell Genet
publication date: 1988-01-01T00:00:00
year: 1988
type: Academic Article
type: Article
type: Document
type: Information Resource

Chromosome 19q deletions in human gliomas overlap telomeric to D19S219 and may target a 425 kb region centromeric to D19S112.
PubMed Identifier: 7666049
author list: Yong WH, Chou D, Ueki K, Harsh GR, von Deimling A, Gusella JF, Mohrenweiser HW, Louis DN
published in: Journal of neuropathology and experimental neurology
information resource reference: Chromosome 19q deletions in human gliomas overlap telomeric to D19S219 and may target a 425 kb region centromeric to D19S112. J Neuropathol Exp Neurol. 1995 Sep; 54(5):622-6.
journal title abbreviation: J Neuropathol Exp Neurol
publication date: 1995-09-01T00:00:00
year: 1995
type: Academic Article
type: Article
type: Document
type: Information Resource

Mouse Huntington's disease gene homolog (Hdh).
PubMed Identifier: 8009370
author list: Barnes GT, Duyao MP, Ambrose CM, McNeil S, Persichetti F, Srinidhi J, Gusella JF, MacDonald ME
published in: Somatic cell and molecular genetics
information resource reference: Mouse Huntington's disease gene homolog (Hdh). Somat Cell Mol Genet. 1994 Mar; 20(2):87-97.
journal title abbreviation: Somat Cell Mol Genet
publication date: 1994-03-01T00:00:00
year: 1994
type: Academic Article
type: Article
type: Document
type: Information Resource

The putative glioma tumor suppressor gene on chromosome 19q maps between APOC2 and HRC.
PubMed Identifier: 8062276
author list: Rubio MP, Correa KM, Ueki K, Mohrenweiser HW, Gusella JF, von Deimling A, Louis DN
published in: Cancer research
information resource reference: The putative glioma tumor suppressor gene on chromosome 19q maps between APOC2 and HRC. Cancer Res. 1994 Sep 01; 54(17):4760-3.
journal title abbreviation: Cancer Res
publication date: 1994-09-01T00:00:00
year: 1994
type: Academic Article
type: Article
type: Document
type: Information Resource

HD CAG repeat implicates a dominant property of huntingtin in mitochondrial energy metabolism.
PubMed Identifier: 16115812
author list: Seong IS, Ivanova E, Lee JM, Choo YS, Fossale E, Anderson M, Gusella JF, Laramie JM, Myers RH, Lesort M, MacDonald ME
published in: Human molecular genetics
information resource reference: HD CAG repeat implicates a dominant property of huntingtin in mitochondrial energy metabolism. Hum Mol Genet. 2005 Oct 01; 14(19):2871-80.
journal title abbreviation: Hum Mol Genet
publication date: 2005-08-22T00:00:00
year: 2005
type: Academic Article
type: Article
type: Document
type: Information Resource

An improved approach to prepare human brains for research.
PubMed Identifier: 7815079
author list: Vonsattel JP, Aizawa H, Ge P, DiFiglia M, McKee AC, MacDonald M, Gusella JF, Landwehrmeyer GB, Bird ED, Richardson EP
published in: Journal of neuropathology and experimental neurology
information resource reference: An improved approach to prepare human brains for research. J Neuropathol Exp Neurol. 1995 Jan; 54(1):42-56.
journal title abbreviation: J Neuropathol Exp Neurol
publication date: 1995-01-01T00:00:00
year: 1995
type: Academic Article
type: Article
type: Document
type: Information Resource

Commitment to erythroid differentiation by friend erythroleukemia cells: a stochastic analysis.
PubMed Identifier: 975244
author list: Gusella J, Geller R, Clarke B, Weeks V, Housman D
published in: Cell
information resource reference: Commitment to erythroid differentiation by friend erythroleukemia cells: a stochastic analysis. Cell. 1976 Oct; 9(2):221-9.
journal title abbreviation: Cell
publication date: 1976-10-01T00:00:00
year: 1976
type: Academic Article
type: Article
type: Document
type: Information Resource

Mapping of a human A2a adenosine receptor (ADORA2) to chromosome 22.
PubMed Identifier: 8020991
author list: MacCollin M, Peterfreund R, MacDonald M, Fink JS, Gusella J
published in: Genomics
information resource reference: Mapping of a human A2a adenosine receptor (ADORA2) to chromosome 22. Genomics. 1994 Mar 15; 20(2):332-3.
journal title abbreviation: Genomics
publication date: 1994-03-15T00:00:00
year: 1994
type: Academic Article
type: Article
type: Document
type: Information Resource

Linkage disequilibrium between the juvenile neuronal ceroid lipofuscinosis gene and marker loci on chromosome 16p 12.1.
PubMed Identifier: 8279474
author list: Lerner TJ, Boustany RM, MacCormack K, Gleitsman J, Schlumpf K, Breakefield XO, Gusella JF, Haines JL
published in: American journal of human genetics
information resource reference: Linkage disequilibrium between the juvenile neuronal ceroid lipofuscinosis gene and marker loci on chromosome 16p 12.1. Am J Hum Genet. 1994 Jan; 54(1):88-94.
journal title abbreviation: Am J Hum Genet
publication date: 1994-01-01T00:00:00
year: 1994
type: Academic Article
type: Article
type: Document
type: Information Resource

The normal Huntington disease (HD) allele, or a closely linked gene, influences age at onset of HD.
PubMed Identifier: 8317477
author list: Farrer LA, Cupples LA, Wiater P, Conneally PM, Gusella JF, Myers RH
published in: American journal of human genetics
information resource reference: The normal Huntington disease (HD) allele, or a closely linked gene, influences age at onset of HD. Am J Hum Genet. 1993 Jul; 53(1):125-30.
journal title abbreviation: Am J Hum Genet
publication date: 1993-07-01T00:00:00
year: 1993
type: Academic Article
type: Article
type: Document
type: Information Resource

Single sperm analysis of the trinucleotide repeats in the Huntington's disease gene: quantification of the mutation frequency spectrum.
PubMed Identifier: 8541834
author list: Leeflang EP, Zhang L, Tavaré S, Hubert R, Srinidhi J, MacDonald ME, Myers RH, de Young M, Wexler NS, Gusella JF
published in: Human molecular genetics
information resource reference: Single sperm analysis of the trinucleotide repeats in the Huntington's disease gene: quantification of the mutation frequency spectrum. Hum Mol Genet. 1995 Sep; 4(9):1519-26.
journal title abbreviation: Hum Mol Genet
publication date: 1995-09-01T00:00:00
year: 1995
type: Academic Article
type: Article
type: Document
type: Information Resource

Prenatal diagnostic testing for familial dysautonomia using linked genetic markers.
PubMed Identifier: 8559751
author list: Oddoux C, Reich E, Axelrod F, Blumenfeld A, Maayan C, Slaugenhaupt S, Gusella J, Ostrer H
published in: Prenatal diagnosis
information resource reference: Prenatal diagnostic testing for familial dysautonomia using linked genetic markers. Prenat Diagn. 1995 Sep; 15(9):817-26.
journal title abbreviation: Prenat Diagn
publication date: 1995-09-01T00:00:00
year: 1995
type: Academic Article
type: Article
type: Document
type: Information Resource

Huntingtin interacts with a family of WW domain proteins.
PubMed Identifier: 9700202
author list: Faber PW, Barnes GT, Srinidhi J, Chen J, Gusella JF, MacDonald ME
published in: Human molecular genetics
information resource reference: Huntingtin interacts with a family of WW domain proteins. Hum Mol Genet. 1998 Sep; 7(9):1463-74.
journal title abbreviation: Hum Mol Genet
publication date: 1998-09-01T00:00:00
year: 1998
type: Academic Article
type: Article
type: Document
type: Information Resource

Genetic linkage analysis of familial amyotrophic lateral sclerosis using human chromosome 21 microsatellite DNA markers.
PubMed Identifier: 7913294
author list: Rosen DR, Sapp P, O'Regan J, McKenna-Yasek D, Schlumpf KS, Haines JL, Gusella JF, Horvitz HR, Brown RH
published in: American journal of medical genetics
information resource reference: Genetic linkage analysis of familial amyotrophic lateral sclerosis using human chromosome 21 microsatellite DNA markers. Am J Med Genet. 1994 May 15; 51(1):61-9.
journal title abbreviation: Am J Med Genet
publication date: 1994-05-15T00:00:00
year: 1994
type: Academic Article
type: Article
type: Document
type: Information Resource

A locus for cerebral cavernous malformations maps to chromosome 7q in two families.
PubMed Identifier: 8530042
author list: Marchuk DA, Gallione CJ, Morrison LA, Clericuzio CL, Hart BL, Kosofsky BE, Louis DN, Gusella JF, Davis LE, Prenger VL
published in: Genomics
information resource reference: A locus for cerebral cavernous malformations maps to chromosome 7q in two families. Genomics. 1995 Jul 20; 28(2):311-4.
journal title abbreviation: Genomics
publication date: 1995-07-20T00:00:00
year: 1995
type: Academic Article
type: Article
type: Document
type: Information Resource

The Gly2019Ser mutation in LRRK2 is not fully penetrant in familial Parkinson's disease: the GenePD study.
PubMed Identifier: 18986508
author list: Latourelle JC, Sun M, Lew MF, Suchowersky O, Klein C, Golbe LI, Mark MH, Growdon JH, Wooten GF, Watts RL, Guttman M, Racette BA, Perlmutter JS, Ahmed A, Shill HA, Singer C, Goldwurm S, Pezzoli G, Zini M, Saint-Hilaire MH, Hendricks AE, Williamson S, Nagle MW, Wilk JB, Massood T, Huskey KW, Laramie JM, DeStefano AL, Baker KB, Itin I, Litvan I, Nicholson G, Corbett A, Nance M, Drasby E, Isaacson S, Burn DJ, Chinnery PF, Pramstaller PP, Al-hinti J, Moller AT, Ostergaard K, Sherman SJ, Roxburgh R, Snow B, Slevin JT, Cambi F, Gusella JF, Myers RH
published in: BMC medicine
information resource reference: The Gly2019Ser mutation in LRRK2 is not fully penetrant in familial Parkinson's disease: the GenePD study. BMC Med. 2008 Nov 05; 6:32.
journal title abbreviation: BMC Med
publication date: 2008-11-05T00:00:00
year: 2008
type: Academic Article
type: Article
type: Document
type: Information Resource

Homozygote for Huntington disease.
PubMed Identifier: 2535231
author list: Myers RH, Leavitt J, Farrer LA, Jagadeesh J, McFarlane H, Mastromauro CA, Mark RJ, Gusella JF
published in: American journal of human genetics
information resource reference: Homozygote for Huntington disease. Am J Hum Genet. 1989 Oct; 45(4):615-8.
journal title abbreviation: Am J Hum Genet
publication date: 1989-10-01T00:00:00
year: 1989
type: Academic Article
type: Article
type: Document
type: Information Resource

Screening for familial APP mutations in sporadic cerebral amyloid angiopathy.
PubMed Identifier: 21085603
author list: Biffi A, Plourde A, Shen Y, Onofrio R, Smith EE, Frosch M, Prada CM, Gusella J, Greenberg SM, Rosand J
published in: PloS one
information resource reference: Screening for familial APP mutations in sporadic cerebral amyloid angiopathy. PLoS One. 2010 Nov 11; 5(11):e13949.
journal title abbreviation: PLoS One
publication date: 2010-11-11T00:00:00
year: 2010
type: Academic Article
type: Article
type: Document
type: Information Resource

Expanding the phenotype and genotype of female GnRH deficiency.
PubMed Identifier: 21209029
author list: Shaw ND, Seminara SB, Welt CK, Au MG, Plummer L, Hughes VA, Dwyer AA, Martin KA, Quinton R, Mericq V, Merino PM, Gusella JF, Crowley WF, Pitteloud N, Hall JE
published in: The Journal of clinical endocrinology and metabolism
information resource reference: Expanding the phenotype and genotype of female GnRH deficiency. J Clin Endocrinol Metab. 2011 Mar; 96(3):E566-76.
journal title abbreviation: J Clin Endocrinol Metab
publication date: 2011-01-05T00:00:00
year: 2011
type: Academic Article
type: Article
type: Document
type: Information Resource

Molecular basis of ornithine aminotransferase deficiency in B-6-responsive and -nonresponsive forms of gyrate atrophy.
PubMed Identifier: 3375240
author list: Ramesh V, McClatchey AI, Ramesh N, Benoit LA, Berson EL, Shih VE, Gusella JF
published in: Proceedings of the National Academy of Sciences of the United States of America
information resource reference: Molecular basis of ornithine aminotransferase deficiency in B-6-responsive and -nonresponsive forms of gyrate atrophy. Proc Natl Acad Sci U S A. 1988 Jun; 85(11):3777-80.
journal title abbreviation: Proc Natl Acad Sci U S A
publication date: 1988-06-01T00:00:00
year: 1988
type: Academic Article
type: Article
type: Document
type: Information Resource

Huntington's disease: CAG genetics expands neurobiology.
PubMed Identifier: 8580718
author list: Gusella JF, MacDonald ME
published in: Current opinion in neurobiology
information resource reference: Huntington's disease: CAG genetics expands neurobiology. Curr Opin Neurobiol. 1995 Oct; 5(5):656-62.
journal title abbreviation: Curr Opin Neurobiol
publication date: 1995-10-01T00:00:00
year: 1995
type: Academic Article
type: Article
type: Document
type: Information Resource

Mapping of the mucolipidosis type IV gene to chromosome 19p and definition of founder haplotypes.
PubMed Identifier: 10441585
author list: Slaugenhaupt SA, Acierno JS, Helbling LA, Bove C, Goldin E, Bach G, Schiffmann R, Gusella JF
published in: American journal of human genetics
information resource reference: Mapping of the mucolipidosis type IV gene to chromosome 19p and definition of founder haplotypes. Am J Hum Genet. 1999 Sep; 65(3):773-8.
journal title abbreviation: Am J Hum Genet
publication date: 1999-09-01T00:00:00
year: 1999
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 14182
type: Authorship
author rank in publication: 6
linked author: Gusella, James
linked information resource: The merlin tumor suppressor localizes preferentially in membrane ruffles.

A DNA polymorphism for Huntington's disease marks the future.
PubMed Identifier: 3155610
author list: Wexler NS, Conneally PM, Housman D, Gusella JF
published in: Archives of neurology
information resource reference: A DNA polymorphism for Huntington's disease marks the future. Arch Neurol. 1985 Jan; 42(1):20-4.
journal title abbreviation: Arch Neurol
publication date: 1985-01-01T00:00:00
year: 1985
type: Academic Article
type: Article
type: Document
type: Information Resource

Irradiation-reduced human chromosome 21 hybrids.
PubMed Identifier: 3163426
author list: Graw S, Davidson J, Gusella J, Watkins P, Tanzi R, Neve R, Patterson D
published in: Somatic cell and molecular genetics
information resource reference: Irradiation-reduced human chromosome 21 hybrids. Somat Cell Mol Genet. 1988 May; 14(3):233-42.
journal title abbreviation: Somat Cell Mol Genet
publication date: 1988-05-01T00:00:00
year: 1988
type: Academic Article
type: Article
type: Document
type: Information Resource

Molecular analysis of chromosome 21 using somatic cell hybrids.
PubMed Identifier: 3860179
author list: Patterson D, van Keuren M, Drabkin H, Watkins P, Gusella J, Scoggin C
published in: Annals of the New York Academy of Sciences
information resource reference: Molecular analysis of chromosome 21 using somatic cell hybrids. Ann N Y Acad Sci. 1985; 450:109-20.
journal title abbreviation: Ann N Y Acad Sci
publication date: 1985-01-01T00:00:00
year: 1985
type: Academic Article
type: Article
type: Document
type: Information Resource

A polymorphic DNA marker genetically linked to Huntington's disease.
PubMed Identifier: 6316146
author list: Gusella JF, Wexler NS, Conneally PM, Naylor SL, Anderson MA, Tanzi RE, Watkins PC, Ottina K, Wallace MR, Sakaguchi AY
published in: Nature
information resource reference: A polymorphic DNA marker genetically linked to Huntington's disease. Nature. 1983 Nov 17-23; 306(5940):234-8.
journal title abbreviation: Nature
publication date: 1983-11-01T00:00:00
year: 1983
type: Academic Article
type: Article
type: Document
type: Information Resource

Molecular characterization of a second melatonin receptor expressed in human retina and brain: the Mel1b melatonin receptor.
PubMed Identifier: 7568007
author list: Reppert SM, Godson C, Mahle CD, Weaver DR, Slaugenhaupt SA, Gusella JF
published in: Proceedings of the National Academy of Sciences of the United States of America
information resource reference: Molecular characterization of a second melatonin receptor expressed in human retina and brain: the Mel1b melatonin receptor. Proc Natl Acad Sci U S A. 1995 Sep 12; 92(19):8734-8.
journal title abbreviation: Proc Natl Acad Sci U S A
publication date: 1995-09-12T00:00:00
year: 1995
type: Academic Article
type: Article
type: Document
type: Information Resource

Chromosomal localization of the gene for human B-cell antigen CD40.
PubMed Identifier: 7687385
author list: Ramesh N, Ramesh V, Gusella JF, Geha R
published in: Somatic cell and molecular genetics
information resource reference: Chromosomal localization of the gene for human B-cell antigen CD40. Somat Cell Mol Genet. 1993 May; 19(3):295-8.
journal title abbreviation: Somat Cell Mol Genet
publication date: 1993-05-01T00:00:00
year: 1993
type: Academic Article
type: Article
type: Document
type: Information Resource

Apolipoprotein E4 allele and Alzheimer disease: examination of allelic association and effect on age at onset in both early- and late-onset cases.
PubMed Identifier: 7713402
author list: Locke PA, Conneally PM, Tanzi RE, Gusella JF, Haines JL
published in: Genetic epidemiology
information resource reference: Apolipoprotein E4 allele and Alzheimer disease: examination of allelic association and effect on age at onset in both early- and late-onset cases. Genet Epidemiol. 1995; 12(1):83-92.
journal title abbreviation: Genet Epidemiol
publication date: 1995-01-01T00:00:00
year: 1995
type: Academic Article
type: Article
type: Document
type: Information Resource

A high-resolution linkage map of human 9q34.1.
PubMed Identifier: 8244374
author list: Henske EP, Ozelius L, Gusella JF, Haines JL, Kwiatkowski DJ
published in: Genomics
information resource reference: A high-resolution linkage map of human 9q34.1. Genomics. 1993 Sep; 17(3):587-91.
journal title abbreviation: Genomics
publication date: 1993-09-01T00:00:00
year: 1993
type: Academic Article
type: Article
type: Document
type: Information Resource

Genetic analysis of the dominant white-spotting (W) region on mouse chromosome 5: identification of cloned DNA markers near W.
PubMed Identifier: 3200849
author list: Geissler EN, Cheng SV, Gusella JF, Housman DE
published in: Proceedings of the National Academy of Sciences of the United States of America
information resource reference: Genetic analysis of the dominant white-spotting (W) region on mouse chromosome 5: identification of cloned DNA markers near W. Proc Natl Acad Sci U S A. 1988 Dec; 85(24):9635-9.
journal title abbreviation: Proc Natl Acad Sci U S A
publication date: 1988-12-01T00:00:00
year: 1988
type: Academic Article
type: Article
type: Document
type: Information Resource

Progress toward the isolation and characterization of the genes causing neurofibromatosis.
PubMed Identifier: 1669691
author list: Menon AG, Gusella JF, Seizinger BR
published in: Brain pathology (Zurich, Switzerland)
information resource reference: Progress toward the isolation and characterization of the genes causing neurofibromatosis. Brain Pathol. 1990 Sep; 1(1):33-40.
journal title abbreviation: Brain Pathol
publication date: 1990-09-01T00:00:00
year: 1990
type: Academic Article
type: Article
type: Document
type: Information Resource

Identification of a presymptomatic molecular phenotype in Hdh CAG knock-in mice.
PubMed Identifier: 12217951
author list: Fossale E, Wheeler VC, Vrbanac V, Lebel LA, Teed A, Mysore JS, Gusella JF, MacDonald ME, Persichetti F
published in: Human molecular genetics
information resource reference: Identification of a presymptomatic molecular phenotype in Hdh CAG knock-in mice. Hum Mol Genet. 2002 Sep 15; 11(19):2233-41.
journal title abbreviation: Hum Mol Genet
publication date: 2002-09-15T00:00:00
year: 2002
type: Academic Article
type: Article
type: Document
type: Information Resource

Detection by PCR of the VNTR polymorphism at D4S95.
PubMed Identifier: 1677758
author list: Allitto BA, Horn GT, Altherr MR, Richards B, McClatchey AI, Wasmuth JJ, Gusella JF
published in: Nucleic acids research
information resource reference: Detection by PCR of the VNTR polymorphism at D4S95. Nucleic Acids Res. 1991 Jul 25; 19(14):4015.
journal title abbreviation: Nucleic Acids Res
publication date: 1991-07-25T00:00:00
year: 1991
type: Academic Article
type: Article
type: Document
type: Information Resource

Identification of the first non-Jewish mutation in familial Dysautonomia.
PubMed Identifier: 12687659
author list: Leyne M, Mull J, Gill SP, Cuajungco MP, Oddoux C, Blumenfeld A, Maayan C, Gusella JF, Axelrod FB, Slaugenhaupt SA
published in: American journal of medical genetics. Part A
information resource reference: Identification of the first non-Jewish mutation in familial Dysautonomia. Am J Med Genet A. 2003 May 01; 118A(4):305-8.
journal title abbreviation: Am J Med Genet A
publication date: 2003-05-01T00:00:00
year: 2003
type: Academic Article
type: Article
type: Document
type: Information Resource

Gene linkage in familial amyotrophic lateral sclerosis: a progress report.
PubMed Identifier: 1853758
author list: Brown RH, Horvitz HR, Rouleau GA, McKenna-Yasek D, Beard C, Sapp P, Haines JL, Gusella JF, Figlewicz DA
published in: Advances in neurology
information resource reference: Gene linkage in familial amyotrophic lateral sclerosis: a progress report. Adv Neurol. 1991; 56:215-26.
journal title abbreviation: Adv Neurol
publication date: 1991-01-01T00:00:00
year: 1991
type: Academic Article
type: Article
type: Document
type: Information Resource

Genetic linkage of the Huntington's disease gene to a DNA marker.
PubMed Identifier: 6240313
author list: Gusella JF
published in: The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques
information resource reference: Genetic linkage of the Huntington's disease gene to a DNA marker. Can J Neurol Sci. 1984 Nov; 11(4):421-5.
journal title abbreviation: Can J Neurol Sci
publication date: 1984-11-01T00:00:00
year: 1984
type: Academic Article
type: Article
type: Document
type: Information Resource

A tiger behind many doors: multiple genetic pathways to malignant glioma.
PubMed Identifier: 7482768
author list: Louis DN, Gusella JF
published in: Trends in genetics : TIG
information resource reference: A tiger behind many doors: multiple genetic pathways to malignant glioma. Trends Genet. 1995 Oct; 11(10):412-5.
journal title abbreviation: Trends Genet
publication date: 1995-10-01T00:00:00
year: 1995
type: Academic Article
type: Article
type: Document
type: Information Resource

Neurofibromatosis 2 gene in human colorectal cancer.
PubMed Identifier: 7497438
author list: Rustgi AK, Xu L, Pinney D, Sterner C, Beauchamp R, Schmidt S, Gusella JF, Ramesh V
published in: Cancer genetics and cytogenetics
information resource reference: Neurofibromatosis 2 gene in human colorectal cancer. Cancer Genet Cytogenet. 1995 Oct 01; 84(1):24-6.
journal title abbreviation: Cancer Genet Cytogenet
publication date: 1995-10-01T00:00:00
year: 1995
type: Academic Article
type: Article
type: Document
type: Information Resource

A functional assay for heterozygous mutations in the GTPase activating protein related domain of the neurofibromatosis type 1 gene.
PubMed Identifier: 7898926
author list: Ishioka C, Ballester R, Engelstein M, Vidal M, Kassel J, The I, Bernards A, Gusella JF, Friend SH
published in: Oncogene
information resource reference: A functional assay for heterozygous mutations in the GTPase activating protein related domain of the neurofibromatosis type 1 gene. Oncogene. 1995 Mar 02; 10(5):841-7.
journal title abbreviation: Oncogene
publication date: 1995-03-02T00:00:00
year: 1995
type: Academic Article
type: Article
type: Document
type: Information Resource

Rapid induction of Alzheimer A beta amyloid formation by zinc.
PubMed Identifier: 8073293
author list: Bush AI, Pettingell WH, Multhaup G, d Paradis M, Vonsattel JP, Gusella JF, Beyreuther K, Masters CL, Tanzi RE
published in: Science (New York, N.Y.)
information resource reference: Rapid induction of Alzheimer A beta amyloid formation by zinc. Science. 1994 Sep 02; 265(5177):1464-7.
journal title abbreviation: Science
publication date: 1994-09-02T00:00:00
year: 1994
type: Academic Article
type: Article
type: Document
type: Information Resource

Hunting for Huntington's disease.
PubMed Identifier: 8220162
author list: Gusella JF, MacDonald ME
published in: Molecular genetic medicine
information resource reference: Hunting for Huntington's disease. Mol Genet Med. 1993; 3:139-58.
journal title abbreviation: Mol Genet Med
publication date: 1993-01-01T00:00:00
year: 1993
type: Academic Article
type: Article
type: Document
type: Information Resource

DNA diagnosis of neurofibromatosis 2. Altered coding sequence of the merlin tumor suppressor in an extended pedigree.
PubMed Identifier: 8230593
author list: MacCollin M, Mohney T, Trofatter J, Wertelecki W, Ramesh V, Gusella J
published in: JAMA
information resource reference: DNA diagnosis of neurofibromatosis 2. Altered coding sequence of the merlin tumor suppressor in an extended pedigree. JAMA. 1993 Nov 17; 270(19):2316-20.
journal title abbreviation: JAMA
publication date: 1993-11-17T00:00:00
year: 1993
type: Academic Article
type: Article
type: Document
type: Information Resource

Application of recombinant DNA techniques to neurogenetic disorders.
PubMed Identifier: 6296951
author list: Housman D, Gusella JF
published in: Research publications - Association for Research in Nervous and Mental Disease
information resource reference: Application of recombinant DNA techniques to neurogenetic disorders. Res Publ Assoc Res Nerv Ment Dis. 1983; 60:167-72.
journal title abbreviation: Res Publ Assoc Res Nerv Ment Dis
publication date: 1983-01-01T00:00:00
year: 1983
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 110861
type: Authorship
author rank in publication: 8
linked author: Gusella, James
linked information resource: Novel mutations in families with unusual and variable disorders of the skeletal muscle sodium channel.

Evidence for subarachnoid spread in the development of multiple meningiomas.
PubMed Identifier: 7767486
author list: von Deimling A, Kraus JA, Stangl AP, Wellenreuther R, Lenartz D, Schramm J, Louis DN, Ramesh V, Gusella JF, Wiestler OD
published in: Brain pathology (Zurich, Switzerland)
information resource reference: Evidence for subarachnoid spread in the development of multiple meningiomas. Brain Pathol. 1995 Jan; 5(1):11-4.
journal title abbreviation: Brain Pathol
publication date: 1995-01-01T00:00:00
year: 1995
type: Academic Article
type: Article
type: Document
type: Information Resource

Analysis of the neurofibromatosis 2 gene in human ependymomas and astrocytomas.
PubMed Identifier: 8261460
author list: Rubio MP, Correa KM, Ramesh V, MacCollin MM, Jacoby LB, von Deimling A, Gusella JF, Louis DN
published in: Cancer research
information resource reference: Analysis of the neurofibromatosis 2 gene in human ependymomas and astrocytomas. Cancer Res. 1994 Jan 01; 54(1):45-7.
journal title abbreviation: Cancer Res
publication date: 1994-01-01T00:00:00
year: 1994
type: Academic Article
type: Article
type: Document
type: Information Resource

Accumulation of wild type p53 protein in human astrocytomas.
PubMed Identifier: 8339248
author list: Rubio MP, von Deimling A, Yandell DW, Wiestler OD, Gusella JF, Louis DN
published in: Cancer research
information resource reference: Accumulation of wild type p53 protein in human astrocytomas. Cancer Res. 1993 Aug 01; 53(15):3465-7.
journal title abbreviation: Cancer Res
publication date: 1993-08-01T00:00:00
year: 1993
type: Academic Article
type: Article
type: Document
type: Information Resource

Association of apolipoprotein E allele epsilon 4 with late-onset familial and sporadic Alzheimer's disease.
PubMed Identifier: 8350998
author list: Saunders AM, Strittmatter WJ, Schmechel D, George-Hyslop PH, Pericak-Vance MA, Joo SH, Rosi BL, Gusella JF, Crapper-MacLachlan DR, Alberts MJ
published in: Neurology
information resource reference: Association of apolipoprotein E allele epsilon 4 with late-onset familial and sporadic Alzheimer's disease. Neurology. 1993 Aug; 43(8):1467-72.
journal title abbreviation: Neurology
publication date: 1993-08-01T00:00:00
year: 1993
type: Academic Article
type: Article
type: Document
type: Information Resource

An expression-independent catalog of genes from human chromosome 22.
PubMed Identifier: 8593609
author list: Trofatter JA, Long KR, Murrell JR, Stotler CJ, Gusella JF, Buckler AJ
published in: Genome research
information resource reference: An expression-independent catalog of genes from human chromosome 22. Genome Res. 1995 Oct; 5(3):214-24.
journal title abbreviation: Genome Res
publication date: 1995-10-01T00:00:00
year: 1995
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 106723
type: Authorship
author rank in publication: 3
linked author: Gusella, James
linked information resource: Linkage of eye movement dysfunction to chromosome 6p in schizophrenia: additional evidence.

Huntington CAG repeat size does not modify onset age in familial Parkinson's disease: the GenePD study.
PubMed Identifier: 18649400
author list: McNicoll CF, Latourelle JC, MacDonald ME, Lew MF, Suchowersky O, Klein C, Golbe LI, Mark MH, Growdon JH, Wooten GF, Watts RL, Guttman M, Racette BA, Perlmutter JS, Ahmed A, Shill HA, Singer C, Saint-Hilaire MH, Massood T, Huskey KW, DeStefano AL, Gillis T, Mysore J, Goldwurm S, Pezzoli G, Baker KB, Itin I, Litvan I, Nicholson G, Corbett A, Nance M, Drasby E, Isaacson S, Burn DJ, Chinnery PF, Pramstaller PP, Al-Hinti J, Moller AT, Ostergaard K, Sherman SJ, Roxburgh R, Snow B, Slevin JT, Cambi F, Gusella JF, Myers RH
published in: Movement disorders : official journal of the Movement Disorder Society
information resource reference: Huntington CAG repeat size does not modify onset age in familial Parkinson's disease: the GenePD study. Mov Disord. 2008 Aug 15; 23(11):1596-601.
journal title abbreviation: Mov Disord
publication date: 2008-08-15T00:00:00
year: 2008
type: Academic Article
type: Article
type: Document
type: Information Resource

Dtorsin, the Drosophila ortholog of the early-onset dystonia TOR1A (DYT1), plays a novel role in dopamine metabolism.
PubMed Identifier: 22022556
author list: Wakabayashi-Ito N, Doherty OM, Moriyama H, Breakefield XO, Gusella JF, O'Donnell JM, Ito N
published in: PloS one
information resource reference: Dtorsin, the Drosophila ortholog of the early-onset dystonia TOR1A (DYT1), plays a novel role in dopamine metabolism. PLoS One. 2011; 6(10):e26183.
journal title abbreviation: PLoS One
publication date: 2011-10-12T00:00:00
year: 2011
type: Academic Article
type: Article
type: Document
type: Information Resource

Predictive testing for Huntington's disease with use of a linked DNA marker.
PubMed Identifier: 2893260
author list: Meissen GJ, Myers RH, Mastromauro CA, Koroshetz WJ, Klinger KW, Farrer LA, Watkins PA, Gusella JF, Bird ED, Martin JB
published in: The New England journal of medicine
information resource reference: Predictive testing for Huntington's disease with use of a linked DNA marker. N Engl J Med. 1988 Mar 03; 318(9):535-42.
journal title abbreviation: N Engl J Med
publication date: 1988-03-03T00:00:00
year: 1988
type: Academic Article
type: Article
type: Document
type: Information Resource

Comparative mapping of DNA markers from the familial Alzheimer disease and Down syndrome regions of human chromosome 21 to mouse chromosomes 16 and 17.
PubMed Identifier: 2901095
author list: Cheng SV, Nadeau JH, Tanzi RE, Watkins PC, Jagadesh J, Taylor BA, Haines JL, Sacchi N, Gusella JF
published in: Proceedings of the National Academy of Sciences of the United States of America
information resource reference: Comparative mapping of DNA markers from the familial Alzheimer disease and Down syndrome regions of human chromosome 21 to mouse chromosomes 16 and 17. Proc Natl Acad Sci U S A. 1988 Aug; 85(16):6032-6.
journal title abbreviation: Proc Natl Acad Sci U S A
publication date: 1988-08-01T00:00:00
year: 1988
type: Academic Article
type: Article
type: Document
type: Information Resource

Genetic linkage map of human chromosome 21.
PubMed Identifier: 2906323
author list: Tanzi RE, Haines JL, Watkins PC, Stewart GD, Wallace MR, Hallewell R, Wong C, Wexler NS, Conneally PM, Gusella JF
published in: Genomics
information resource reference: Genetic linkage map of human chromosome 21. Genomics. 1988 Aug; 3(2):129-36.
journal title abbreviation: Genomics
publication date: 1988-08-01T00:00:00
year: 1988
type: Academic Article
type: Article
type: Document
type: Information Resource

A new RFLP for D18S3(B74) an anonymous genomic clone localized to 18p113.
PubMed Identifier: 3018684
author list: Ozelius L, Mandel JL, Gusella JF, Breakefield XO
published in: Nucleic acids research
information resource reference: A new RFLP for D18S3(B74) an anonymous genomic clone localized to 18p113. Nucleic Acids Res. 1986 Aug 26; 14(16):6782.
journal title abbreviation: Nucleic Acids Res
publication date: 1986-08-26T00:00:00
year: 1986
type: Academic Article
type: Article
type: Document
type: Information Resource

Clinical diagnosis by whole-genome sequencing of a prenatal sample.
PubMed Identifier: 23215558
author list: Talkowski ME, Ordulu Z, Pillalamarri V, Benson CB, Blumenthal I, Connolly S, Hanscom C, Hussain N, Pereira S, Picker J, Rosenfeld JA, Shaffer LG, Wilkins-Haug LE, Gusella JF, Morton CC
published in: The New England journal of medicine
information resource reference: Clinical diagnosis by whole-genome sequencing of a prenatal sample. N Engl J Med. 2012 Dec 06; 367(23):2226-32.
journal title abbreviation: N Engl J Med
publication date: 2012-12-06T00:00:00
year: 2012
type: Academic Article
type: Article
type: Document
type: Information Resource

Neurofibromatosis 2: clinical and DNA linkage studies of a large kindred.
PubMed Identifier: 3134615
author list: Wertelecki W, Rouleau GA, Superneau DW, Forehand LW, Williams JP, Haines JL, Gusella JF
published in: The New England journal of medicine
information resource reference: Neurofibromatosis 2: clinical and DNA linkage studies of a large kindred. N Engl J Med. 1988 Aug 04; 319(5):278-83.
journal title abbreviation: N Engl J Med
publication date: 1988-08-04T00:00:00
year: 1988
type: Academic Article
type: Article
type: Document
type: Information Resource

Hemin does not cause commitment of murine erythroleukemia (MEL) cells to terminal differentiation.
PubMed Identifier: 6931622
author list: Gusella JF, Weil SC, Tsiftsoglou AS, Volloch V, Neumann JR, Keys C, Housman DE
published in: Blood
information resource reference: Hemin does not cause commitment of murine erythroleukemia (MEL) cells to terminal differentiation. Blood. 1980 Sep; 56(3):481-7.
journal title abbreviation: Blood
publication date: 1980-09-01T00:00:00
year: 1980
type: Academic Article
type: Article
type: Document
type: Information Resource

Inactivation of the mouse Huntington's disease gene homolog Hdh.
PubMed Identifier: 7618107
author list: Duyao MP, Auerbach AB, Ryan A, Persichetti F, Barnes GT, McNeil SM, Ge P, Vonsattel JP, Gusella JF, Joyner AL
published in: Science (New York, N.Y.)
information resource reference: Inactivation of the mouse Huntington's disease gene homolog Hdh. Science. 1995 Jul 21; 269(5222):407-10.
journal title abbreviation: Science
publication date: 1995-07-21T00:00:00
year: 1995
type: Academic Article
type: Article
type: Document
type: Information Resource

Analysis of the neurofibromatosis 2 gene reveals molecular variants of meningioma.
PubMed Identifier: 7717450
author list: Wellenreuther R, Kraus JA, Lenartz D, Menon AG, Schramm J, Louis DN, Ramesh V, Gusella JF, Wiestler OD, von Deimling A
published in: The American journal of pathology
information resource reference: Analysis of the neurofibromatosis 2 gene reveals molecular variants of meningioma. Am J Pathol. 1995 Apr; 146(4):827-32.
journal title abbreviation: Am J Pathol
publication date: 1995-04-01T00:00:00
year: 1995
type: Academic Article
type: Article
type: Document
type: Information Resource

Dinucleotide repeat polymorphism for the hexabrachion gene (HXB) on chromosome 9q32-34.
PubMed Identifier: 1284469
author list: Ozelius L, Schuback DE, Stefansson K, Slaugenhaupt S, Gusella JF, Breakefield XO
published in: Human molecular genetics
information resource reference: Dinucleotide repeat polymorphism for the hexabrachion gene (HXB) on chromosome 9q32-34. Hum Mol Genet. 1992 May; 1(2):141.
journal title abbreviation: Hum Mol Genet
publication date: 1992-05-01T00:00:00
year: 1992
type: Academic Article
type: Article
type: Document
type: Information Resource

Huntingtin is required for neurogenesis and is not impaired by the Huntington's disease CAG expansion.
PubMed Identifier: 9398841
author list: White JK, Auerbach W, Duyao MP, Vonsattel JP, Gusella JF, Joyner AL, MacDonald ME
published in: Nature genetics
information resource reference: Huntingtin is required for neurogenesis and is not impaired by the Huntington's disease CAG expansion. Nat Genet. 1997 Dec; 17(4):404-10.
journal title abbreviation: Nat Genet
publication date: 1997-12-01T00:00:00
year: 1997
type: Academic Article
type: Article
type: Document
type: Information Resource

Merlin: the neurofibromatosis 2 tumor suppressor.
PubMed Identifier: 10214350
author list: Gusella JF, Ramesh V, MacCollin M, Jacoby LB
published in: Biochimica et biophysica acta
information resource reference: Merlin: the neurofibromatosis 2 tumor suppressor. Biochim Biophys Acta. 1999 Mar 25; 1423(2):M29-36.
journal title abbreviation: Biochim Biophys Acta
publication date: 1999-03-25T00:00:00
year: 1999
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 109111
type: Authorship
author rank in publication: 3
linked author: Gusella, James
linked information resource: CAG repeat expansion in Huntington disease determines age at onset in a fully dominant fashion.

Huntingtin's WW domain partners in Huntington's disease post-mortem brain fulfill genetic criteria for direct involvement in Huntington's disease pathogenesis.
PubMed Identifier: 10958656
author list: Passani LA, Bedford MT, Faber PW, McGinnis KM, Sharp AH, Gusella JF, Vonsattel JP, MacDonald ME
published in: Human molecular genetics
information resource reference: Huntingtin's WW domain partners in Huntington's disease post-mortem brain fulfill genetic criteria for direct involvement in Huntington's disease pathogenesis. Hum Mol Genet. 2000 Sep 01; 9(14):2175-82.
journal title abbreviation: Hum Mol Genet
publication date: 2000-09-01T00:00:00
year: 2000
type: Academic Article
type: Article
type: Document
type: Information Resource

Advances in neurofibromatosis 2 (NF2): a workshop report.
PubMed Identifier: 10992163
author list: Lim DJ, Rubenstein AE, Evans DG, Jacks T, Seizinger BG, Baser ME, Beebe D, Brackmann DE, Chiocca EA, Fehon RG, Giovannini M, Glazer R, Gusella JF, Gutmann DH, Korf B, Lieberman F, Martuza R, McClatchey AI, Parry DM, Pulst SM, Ramesh V, Ramsey WJ, Ratner N, Rutkowski JL, Ruttledge M, Weinstein DE
published in: Journal of neurogenetics
information resource reference: Advances in neurofibromatosis 2 (NF2): a workshop report. J Neurogenet. 2000 Jun; 14(2):63-106.
journal title abbreviation: J Neurogenet
publication date: 2000-06-01T00:00:00
year: 2000
type: Academic Article
type: Article
type: Document
type: Information Resource

Molecular confirmation of Wolf-Hirschhorn syndrome with a subtle translocation of chromosome 4.
PubMed Identifier: 1746553
author list: Altherr MR, Bengtsson U, Elder FF, Ledbetter DH, Wasmuth JJ, McDonald ME, Gusella JF, Greenberg F
published in: American journal of human genetics
information resource reference: Molecular confirmation of Wolf-Hirschhorn syndrome with a subtle translocation of chromosome 4. Am J Hum Genet. 1991 Dec; 49(6):1235-42.
journal title abbreviation: Am J Hum Genet
publication date: 1991-12-01T00:00:00
year: 1991
type: Academic Article
type: Article
type: Document
type: Information Resource

The search for the genetic defects in Huntington's disease and familial Alzheimer's disease.
PubMed Identifier: 1825888
author list: Gusella JF
published in: Research publications - Association for Research in Nervous and Mental Disease
information resource reference: The search for the genetic defects in Huntington's disease and familial Alzheimer's disease. Res Publ Assoc Res Nerv Ment Dis. 1991; 69:75-83.
journal title abbreviation: Res Publ Assoc Res Nerv Ment Dis
publication date: 1991-01-01T00:00:00
year: 1991
type: Academic Article
type: Article
type: Document
type: Information Resource

Reversal of a full-length mutant huntingtin neuronal cell phenotype by chemical inhibitors of polyglutamine-mediated aggregation.
PubMed Identifier: 15649316
author list: Wang J, Gines S, MacDonald ME, Gusella JF
published in: BMC neuroscience
information resource reference: Reversal of a full-length mutant huntingtin neuronal cell phenotype by chemical inhibitors of polyglutamine-mediated aggregation. BMC Neurosci. 2005 Jan 13; 6:1.
journal title abbreviation: BMC Neurosci
publication date: 2005-01-13T00:00:00
year: 2005
type: Academic Article
type: Article
type: Document
type: Information Resource

Absence of previously reported variants in the SCNA (G88C and G209A), NR4A2 (T291D and T245G) and the DJ-1 (T497C) genes in familial Parkinson's disease from the GenePD study.
PubMed Identifier: 15966003
author list: Karamohamed S, Golbe LI, Mark MH, Lazzarini AM, Suchowersky O, Labelle N, Guttman M, Currie LJ, Wooten GF, Stacy M, Saint-Hilaire M, Feldman RG, Liu J, Shoemaker CM, Wilk JB, DeStefano AL, Latourelle JC, Xu G, Watts R, Growdon J, Lew M, Waters C, Vieregge P, Pramstaller PP, Klein C, Racette BA, Perlmutter JS, Parsian A, Singer C, Montgomery E, Baker K, Gusella JF, Herbert A, Myers RH
published in: Movement disorders : official journal of the Movement Disorder Society
information resource reference: Absence of previously reported variants in the SCNA (G88C and G209A), NR4A2 (T291D and T245G) and the DJ-1 (T497C) genes in familial Parkinson's disease from the GenePD study. Mov Disord. 2005 Sep; 20(9):1188-91.
journal title abbreviation: Mov Disord
publication date: 2005-09-01T00:00:00
year: 2005
type: Academic Article
type: Article
type: Document
type: Information Resource

Analysis of the beta-amyloid protein precursor of Alzheimer's disease: mRNAs and protein products.
PubMed Identifier: 2104687
author list: Palmert MR, Podlisny MB, Golde TE, Cohen ML, Kovacs DM, Tanzi RE, Gusella JF, Whitehouse PJ, Witker DS, Oltersdorf T
published in: Advances in neurology
information resource reference: Analysis of the beta-amyloid protein precursor of Alzheimer's disease: mRNAs and protein products. Adv Neurol. 1990; 51:181-4.
journal title abbreviation: Adv Neurol
publication date: 1990-01-01T00:00:00
year: 1990
type: Academic Article
type: Article
type: Document
type: Information Resource

Disruption of diacylglycerol kinase delta (DGKD) associated with seizures in humans and mice.
PubMed Identifier: 17357084
author list: Leach NT, Sun Y, Michaud S, Zheng Y, Ligon KL, Ligon AH, Sander T, Korf BR, Lu W, Harris DJ, Gusella JF, Maas RL, Quade BJ, Cole AJ, Kelz MB, Morton CC
published in: American journal of human genetics
information resource reference: Disruption of diacylglycerol kinase delta (DGKD) associated with seizures in humans and mice. Am J Hum Genet. 2007 Apr; 80(4):792-9.
journal title abbreviation: Am J Hum Genet
publication date: 2007-02-12T00:00:00
year: 2007
type: Academic Article
type: Article
type: Document
type: Information Resource

Extensive molecular genetic analysis of the 3p14.3 region in patients with Zimmermann-Laband syndrome.
PubMed Identifier: 17937436
author list: Abo-Dalo B, Kim HG, Roes M, Stefanova M, Higgins A, Shen Y, Mundlos S, Quade BJ, Gusella JF, Kutsche K
published in: American journal of medical genetics. Part A
information resource reference: Extensive molecular genetic analysis of the 3p14.3 region in patients with Zimmermann-Laband syndrome. Am J Med Genet A. 2007 Nov 15; 143A(22):2668-74.
journal title abbreviation: Am J Med Genet A
publication date: 2007-11-15T00:00:00
year: 2007
type: Academic Article
type: Article
type: Document
type: Information Resource

Molecular genetics of familial Alzheimer's disease.
PubMed Identifier: 2680005
author list: St George-Hyslop PH, Haines JL, Polinsky RJ, Tanzi RE, Farrer L, Myers RH, Gusella JF
published in: The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques
information resource reference: Molecular genetics of familial Alzheimer's disease. Can J Neurol Sci. 1989 Nov; 16(4 Suppl):465-7.
journal title abbreviation: Can J Neurol Sci
publication date: 1989-11-01T00:00:00
year: 1989
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 116965
type: Authorship
author rank in publication: 8
linked author: Gusella, James
linked information resource: Magicin, a novel cytoskeletal protein associates with the NF2 tumor suppressor merlin and Grb2.

Regional assignment of six polymorphic DNA sequences on chromosome 21 by in situ hybridization to normal and rearranged chromosomes.
PubMed Identifier: 3348217
author list: Münke M, Foellmer B, Watkins PC, Cowan JM, Carroll AJ, Gusella JF, Francke U
published in: American journal of human genetics
information resource reference: Regional assignment of six polymorphic DNA sequences on chromosome 21 by in situ hybridization to normal and rearranged chromosomes. Am J Hum Genet. 1988 Apr; 42(4):542-9.
journal title abbreviation: Am J Hum Genet
publication date: 1988-04-01T00:00:00
year: 1988
type: Academic Article
type: Article
type: Document
type: Information Resource

Report of the committee on the genetic constitution of chromosomes 3 and 4.
PubMed Identifier: 3507271
author list: Gusella JF, Wasmuth JJ
published in: Cytogenetics and cell genetics
information resource reference: Report of the committee on the genetic constitution of chromosomes 3 and 4. Cytogenet Cell Genet. 1987; 46(1-4):131-46.
journal title abbreviation: Cytogenet Cell Genet
publication date: 1987-01-01T00:00:00
year: 1987
type: Academic Article
type: Article
type: Document
type: Information Resource

Chromosome-mediated transfer of the malignant phenotype by human acute myelogenous leukemic cells.
PubMed Identifier: 6383498
author list: Minden MD, Gusella JF, Housman D
published in: Blood
information resource reference: Chromosome-mediated transfer of the malignant phenotype by human acute myelogenous leukemic cells. Blood. 1984 Oct; 64(4):842-6.
journal title abbreviation: Blood
publication date: 1984-10-01T00:00:00
year: 1984
type: Academic Article
type: Article
type: Document
type: Information Resource

Genetic fine-structure mapping in human chromosome 11 by use of repetitive DNA sequences.
PubMed Identifier: 6961451
author list: Gusella JF, Jones C, Kao FT, Housman D, Puck TT
published in: Proceedings of the National Academy of Sciences of the United States of America
information resource reference: Genetic fine-structure mapping in human chromosome 11 by use of repetitive DNA sequences. Proc Natl Acad Sci U S A. 1982 Dec; 79(24):7804-8.
journal title abbreviation: Proc Natl Acad Sci U S A
publication date: 1982-12-01T00:00:00
year: 1982
type: Academic Article
type: Article
type: Document
type: Information Resource

Peripherin gene is linked to keratin 18 gene on human chromosome 12.
PubMed Identifier: 7541564
author list: Blumenfeld A, Lucente DE, Trofatter JA, Lerner T, Slaugenhaupt SA, Liebert CB, Monahan M, Haines JL, Gusella JF, Breakefield XO, Parysek LM
published in: Somatic cell and molecular genetics
information resource reference: Peripherin gene is linked to keratin 18 gene on human chromosome 12. Somat Cell Mol Genet. 1995 Jan; 21(1):83-8.
journal title abbreviation: Somat Cell Mol Genet
publication date: 1995-01-01T00:00:00
year: 1995
type: Academic Article
type: Article
type: Document
type: Information Resource

Characterization of a duplication in the terminal band of 4p by molecular cytogenetics.
PubMed Identifier: 7684190
author list: Wyandt HE, Milunsky J, Lerner T, Gusella JF, Hou A, MacDonald M, Adekunle S, Milunsky A
published in: American journal of medical genetics
information resource reference: Characterization of a duplication in the terminal band of 4p by molecular cytogenetics. Am J Med Genet. 1993 Apr 01; 46(1):72-6.
journal title abbreviation: Am J Med Genet
publication date: 1993-04-01T00:00:00
year: 1993
type: Academic Article
type: Article
type: Document
type: Information Resource

Huntington's disease and repeating trinucleotides.
PubMed Identifier: 8159202
author list: Gusella JF, MacDonald ME
published in: The New England journal of medicine
information resource reference: Huntington's disease and repeating trinucleotides. N Engl J Med. 1994 May 19; 330(20):1450-1.
journal title abbreviation: N Engl J Med
publication date: 1994-05-19T00:00:00
year: 1994
type: Academic Article
type: Article
type: Document
type: Information Resource

Mutations in transcript isoforms of the neurofibromatosis 2 gene in multiple human tumour types.
PubMed Identifier: 8162073
author list: Bianchi AB, Hara T, Ramesh V, Gao J, Klein-Szanto AJ, Morin F, Menon AG, Trofatter JA, Gusella JF, Seizinger BR
published in: Nature genetics
information resource reference: Mutations in transcript isoforms of the neurofibromatosis 2 gene in multiple human tumour types. Nat Genet. 1994 Feb; 6(2):185-92.
journal title abbreviation: Nat Genet
publication date: 1994-02-01T00:00:00
year: 1994
type: Academic Article
type: Article
type: Document
type: Information Resource

Linkage analysis in familial Alzheimer disease: description of the Duke and Boston data sets.
PubMed Identifier: 8314027
author list: Pericak-Vance MA, St George-Hyslop PH, Gaskell PC, Growdon J, Crain BJ, Hulette C, Gusella JF, Yamaoka L, Tanzi RE, Roses AD
published in: Genetic epidemiology
information resource reference: Linkage analysis in familial Alzheimer disease: description of the Duke and Boston data sets. Genet Epidemiol. 1993; 10(6):361-4.
journal title abbreviation: Genet Epidemiol
publication date: 1993-01-01T00:00:00
year: 1993
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 1130390
type: Authorship
author rank in publication: 20
linked author: Gusella, James
linked information resource: Structure and expression of the Huntington's disease gene: evidence against simple inactivation due to an expanded CAG repeat.

Structure and expression of the Huntington's disease gene: evidence against simple inactivation due to an expanded CAG repeat.
PubMed Identifier: 8197474
author list: Ambrose CM, Duyao MP, Barnes G, Bates GP, Lin CS, Srinidhi J, Baxendale S, Hummerich H, Lehrach H, Altherr M, Wasmuth J, Buckler A, Church D, Housman D, Berks M, Micklem G, Durbin R, Dodge A, Read A, Gusella J, MacDonald ME
published in: Somatic cell and molecular genetics
information resource reference: Structure and expression of the Huntington's disease gene: evidence against simple inactivation due to an expanded CAG repeat. Somat Cell Mol Genet. 1994 01; 20(1):27-38.
journal title abbreviation: Somat Cell Mol Genet
publication date: 1994-01-01T00:00:00
year: 1994
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 116655
type: Authorship
author rank in publication: 4
linked author: Gusella, James
linked information resource: The ETS genes on chromosome 21 are distal to the breakpoint of the acute myelogenous leukemia translocation (8;21).

Authorship 1136814
type: Authorship
author rank in publication: 1
linked author: Gusella, James
linked information resource: Bioenergetic deficits in Huntington's disease iPSC-derived neural cells and rescue with glycolytic metabolites.

Bioenergetic deficits in Huntington's disease iPSC-derived neural cells and rescue with glycolytic metabolites.
PubMed Identifier: 30768179
published in: Human molecular genetics
information resource reference: Bioenergetic deficits in Huntington's disease iPSC-derived neural cells and rescue with glycolytic metabolites. Hum Mol Genet. 2020 07 21; 29(11):1757-1771.
journal title abbreviation: Hum Mol Genet
publication date: 2020-07-21T00:00:00
year: 2020
type: Academic Article
type: Article
type: Document
type: Information Resource

Hypomorphic mutation of the mouse Huntington's disease gene orthologue.
PubMed Identifier: 30897080
author list: Murthy V, Tebaldi T, Yoshida T, Erdin S, Calzonetti T, Vijayvargia R, Tripathi T, Kerschbamer E, Seong IS, Quattrone A, Talkowski ME, Gusella JF, Georgopoulos K, MacDonald ME, Biagioli M
published in: PLoS genetics
information resource reference: Hypomorphic mutation of the mouse Huntington's disease gene orthologue. PLoS Genet. 2019 03; 15(3):e1007765.
journal title abbreviation: PLoS Genet
publication date: 2019-03-21T00:00:00
year: 2019
type: Academic Article
type: Article
type: Document
type: Information Resource

Trinucleotide Repeats
MeSH DescriptorUI: D018911
MeSH semantic group name: Chemicals & Drugs
number of authors: 115
number of publications: 251
uniqueness weight: 0.903415
type: Concept

Huntington Disease
MeSH DescriptorUI: D006816
MeSH semantic group name: Disorders
number of authors: 244
number of publications: 1179
uniqueness weight: 0.594838
type: Concept

Trinucleotide Repeat Expansion
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Chromosomes, Human, Pair 4
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Authorship 1141356
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linked information resource: Hypomorphic mutation of the mouse Huntington's disease gene orthologue.

Genetic Linkage
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Authorship 116001
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linked information resource: Deficiency of huntingtin has pleiotropic effects in the social amoeba Dictyostelium discoideum.

Authorship 122078
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linked information resource: Genetic linkage of the Huntington's disease gene to a DNA marker.

Genetics
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Neurology
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Pediatrics
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Genetics
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Boston Children's Hospital
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Massachusetts General Hospital
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McCormack, Matthew
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Ramesh, Vijaya
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Hochedlinger, Konrad
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linked information resource: Reduced penetrance of the Huntington's disease mutation.

Talkowski, Michael
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DiFiglia, Marian
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Wheeler, Vanessa
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Authorship 136753
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linked information resource: Dtorsin, the Drosophila ortholog of the early-onset dystonia TOR1A (DYT1), plays a novel role in dopamine metabolism.

Alkuraya, Fowzan
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Lee, Jeannie
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Sheen, Jen
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Bongard, Deverie
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MacDonald, Marcy
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person in primary position: Professor of Neurology
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Authorship 1171665
type: Authorship
author rank in publication: 8
linked author: Gusella, James
linked information resource: Full sequence of mutant huntingtin 3'-untranslated region and modulation of its gene regulatory activity by endogenous microRNA.

Full sequence of mutant huntingtin 3'-untranslated region and modulation of its gene regulatory activity by endogenous microRNA.
PubMed Identifier: 31296921
author list: Kim KH, Abu Elneel K, Shin JW, Keum JW, Seong D, Kwak S, Lee R, Gusella JF, MacDonald ME, Seong IS, Lee JM
published in: Journal of human genetics
information resource reference: Full sequence of mutant huntingtin 3'-untranslated region and modulation of its gene regulatory activity by endogenous microRNA. J Hum Genet. 2019 Oct; 64(10):995-1004.
journal title abbreviation: J Hum Genet
publication date: 2019-07-11T00:00:00
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type: Academic Article
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Authorship 141608
type: Authorship
author rank in publication: 24
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linked information resource: Analysis of the c-FOS gene on chromosome 14 and the promoter of the amyloid precursor protein gene in familial Alzheimer's disease.

Authorship 141655
type: Authorship
author rank in publication: 19
linked author: Gusella, James
linked information resource: Association between microdeletion and microduplication at 16p11.2 and autism.

Authorship 1191054
type: Authorship
author rank in publication: 6
linked author: Gusella, James
linked information resource: A rare case of acquired immunodeficiency associated with myelodysplastic syndrome.

A rare case of acquired immunodeficiency associated with myelodysplastic syndrome.
PubMed Identifier: 31503426
author list: Li J, Li J, Li J, Yao H, Liu F, Gusella JF, Shi X, Chen X
published in: Molecular genetics & genomic medicine
information resource reference: A rare case of acquired immunodeficiency associated with myelodysplastic syndrome. Mol Genet Genomic Med. 2019 11; 7(11):e923.
journal title abbreviation: Mol Genet Genomic Med
publication date: 2019-09-10T00:00:00
year: 2019
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 147854
type: Authorship
author rank in publication: 30
linked author: Gusella, James
linked information resource: Genetic evidence for a novel familial Alzheimer's disease locus on chromosome 14.

Authorship 142968
type: Authorship
author rank in publication: 26
linked author: Gusella, James
linked information resource: Disruption of neurexin 1 associated with autism spectrum disorder.

Authorship 14812
type: Authorship
author rank in publication: 8
linked author: Gusella, James
linked information resource: Homozygote for Huntington disease.

Authorship 1199101
type: Authorship
author rank in publication: 10
linked author: Gusella, James
linked information resource: A Balanced Translocation in Kallmann Syndrome Implicates a Long Noncoding RNA, RMST, as a GnRH Neuronal Regulator.

A Balanced Translocation in Kallmann Syndrome Implicates a Long Noncoding RNA, RMST, as a GnRH Neuronal Regulator.
PubMed Identifier: 31628846
author list: Stamou M, Ng SY, Brand H, Wang H, Plummer L, Best L, Havlicek S, Hibberd M, Khor CC, Gusella J, Balasubramanian R, Talkowski M, Stanton LW, Crowley WF
published in: The Journal of clinical endocrinology and metabolism
information resource reference: A Balanced Translocation in Kallmann Syndrome Implicates a Long Noncoding RNA, RMST, as a GnRH Neuronal Regulator. J Clin Endocrinol Metab. 2020 03 01; 105(3).
journal title abbreviation: J Clin Endocrinol Metab
publication date: 2020-03-01T00:00:00
year: 2020
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 168553
type: Authorship
author rank in publication: 10
linked author: Gusella, James
linked information resource: Physical and genetic localization of quinonoid dihydropteridine reductase gene (QDPR) on short arm of chromosome 4.

Authorship 133168
type: Authorship
author rank in publication: 10
linked author: Gusella, James
linked information resource: Huntington's disease CAG trinucleotide repeats in pathologically confirmed post-mortem brains.

Authorship 115894
type: Authorship
author rank in publication: 6
linked author: Gusella, James
linked information resource: Chromosome jumping from D4S10 (G8) toward the Huntington disease gene.

Professor of Genetics
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Associate in Genetics
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Authorship 137481
type: Authorship
author rank in publication: 6
linked author: Gusella, James
linked information resource: Specific progressive cAMP reduction implicates energy deficit in presymptomatic Huntington's disease knock-in mice.

Authorship 140386
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author rank in publication: 5
linked author: Gusella, James
linked information resource: Transglutaminase aggregates huntingtin into nonamyloidogenic polymers, and its enzymatic activity increases in Huntington's disease brain nuclei.

Authorship 125826
type: Authorship
author rank in publication: 2
linked author: Gusella, James
linked information resource: Dinucleotide repeat polymorphism at the debrisoquine 4-hydroxylase (CYP2D) locus.

Authorship 123984
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author rank in publication: 9
linked author: Gusella, James
linked information resource: The cell adhesion gene PVRL3 is associated with congenital ocular defects.

Authorship 1220479
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author rank in publication: 10
linked author: Gusella, James
linked information resource: De novo variants in the Helicase-C domain of CHD8 are associated with severe phenotypes including autism, language disability and overgrowth.

De novo variants in the Helicase-C domain of CHD8 are associated with severe phenotypes including autism, language disability and overgrowth.
PubMed Identifier: 31980904
author list: An Y, Zhang L, Liu W, Jiang Y, Chen X, Lan X, Li G, Hang Q, Wang J, Gusella JF, Du Y, Shen Y
published in: Human genetics
information resource reference: De novo variants in the Helicase-C domain of CHD8 are associated with severe phenotypes including autism, language disability and overgrowth. Hum Genet. 2020 Apr; 139(4):499-512.
journal title abbreviation: Hum Genet
publication date: 2020-01-24T00:00:00
year: 2020
type: Academic Article
type: Article
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Authorship 168813
type: Authorship
author rank in publication: 1
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linked information resource: The search for the genetic defects in Huntington's disease and familial Alzheimer's disease.

Authorship 124782
type: Authorship
author rank in publication: 2
linked author: Gusella, James
linked information resource: Dinucleotide repeat polymorphism at the D9S123 locus (9q31-34).

Authorship 1229367
type: Authorship
author rank in publication: 39
linked author: Gusella, James
linked information resource: Genetic Risk Underlying Psychiatric and Cognitive Symptoms in Huntington's Disease.

Genetic Risk Underlying Psychiatric and Cognitive Symptoms in Huntington's Disease.
PubMed Identifier: 32087949
author list: Ellis N, Tee A, McAllister B, Massey T, McLauchlan D, Stone T, Correia K, Loupe J, Kim KH, Barker D, Hong EP, Chao MJ, Long JD, Lucente D, Vonsattel JPG, Pinto RM, Elneel KA, Ramos EM, Mysore JS, Gillis T, Wheeler VC, Medway C, Hall L, Kwak S, Sampaio C, Ciosi M, Maxwell A, Chatzi A, Monckton DG, Orth M, Landwehrmeyer GB, Paulsen JS, Shoulson I, Myers RH, van Duijn E, Rickards H, MacDonald ME, Lee JM, Gusella JF, Jones L, Holmans P
published in: Biological psychiatry
information resource reference: Genetic Risk Underlying Psychiatric and Cognitive Symptoms in Huntington's Disease. Biol Psychiatry. 2020 05 01; 87(9):857-865.
journal title abbreviation: Biol Psychiatry
publication date: 2019-12-17T00:00:00
year: 2019
type: Academic Article
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Authorship 176982
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author rank in publication: 3
linked author: Gusella, James
linked information resource: Discrepancy resolved.

Authorship 167554
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author rank in publication: 3
linked author: Gusella, James
linked information resource: Irradiation-reduced human chromosome 21 hybrids.

Authorship 172974
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linked author: Gusella, James
linked information resource: Sequence of the voltage-gated sodium channel beta1-subunit in wild-type and in quivering mice.

Authorship 178208
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linked information resource: HD CAG-correlated gene expression changes support a simple dominant gain of function.

Authorship 180718
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linked information resource: Strong allelic association between the torsion dystonia gene (DYT1) andloci on chromosome 9q34 in Ashkenazi Jews.

Authorship 1253039
type: Authorship
author rank in publication: 15
linked author: Gusella, James
linked information resource: Transcriptional consequences of MBD5 disruption in mouse brain and CRISPR-derived neurons.

Transcriptional consequences of MBD5 disruption in mouse brain and CRISPR-derived neurons.
PubMed Identifier: 32503625
author list: Seabra CM, Aneichyk T, Erdin S, Tai DJC, De Esch CEF, Razaz P, An Y, Manavalan P, Ragavendran A, Stortchevoi A, Abad C, Young JI, Maciel P, Talkowski ME, Gusella JF
published in: Molecular autism
information resource reference: Transcriptional consequences of MBD5 disruption in mouse brain and CRISPR-derived neurons. Mol Autism. 2020 06 05; 11(1):45.
journal title abbreviation: Mol Autism
publication date: 2020-06-05T00:00:00
year: 2020
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Authorship 139543
type: Authorship
author rank in publication: 10
linked author: Gusella, James
linked information resource: Familial Alzheimer's disease: progress and problems.

Authorship 1259181
type: Authorship
author rank in publication: 15
linked author: Gusella, James
linked information resource: Genetic and Functional Analyses Point to FAN1 as the Source of Multiple Huntington Disease Modifier Effects.

Genetic and Functional Analyses Point to FAN1 as the Source of Multiple Huntington Disease Modifier Effects.
PubMed Identifier: 32589923
author list: Kim KH, Hong EP, Shin JW, Chao MJ, Loupe J, Gillis T, Mysore JS, Holmans P, Jones L, Orth M, Monckton DG, Long JD, Kwak S, Lee R, Gusella JF, MacDonald ME, Lee JM
published in: American journal of human genetics
information resource reference: Genetic and Functional Analyses Point to FAN1 as the Source of Multiple Huntington Disease Modifier Effects. Am J Hum Genet. 2020 07 02; 107(1):96-110.
journal title abbreviation: Am J Hum Genet
publication date: 2020-06-25T00:00:00
year: 2020
type: Academic Article
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Authorship 183655
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linked information resource: The predominantly HEAT-like motif structure of huntingtin and its association and coincident nuclear entry with dorsal, an NF-kB/Rel/dorsal family transcription factor.

Authorship 212598
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author rank in publication: 8
linked author: Gusella, James
linked information resource: Gene linkage in familial amyotrophic lateral sclerosis: a progress report.

Authorship 157885
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linked author: Gusella, James
linked information resource: Loss of chromosome 22 alleles in human sporadic spinal schwannomas.

Authorship 162778
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linked author: Gusella, James
linked information resource: The importance of genetic mosaicism in human disease.

Authorship 167449
type: Authorship
author rank in publication: 2
linked author: Gusella, James
linked information resource: The organization of a nuclear DNA sequence from a higher plant: molecular cloning and characterization of soybean ribosomal DNA.

Authorship 171544
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linked author: Gusella, James
linked information resource: Disruption of ROBO2 is associated with urinary tract anomalies and confers risk of vesicoureteral reflux.

Authorship 172583
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linked author: Gusella, James
linked information resource: The BCL3 locus on chromosome 19 displays an informative microsatellite polymorphism.

Authorship 190561
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linked author: Gusella, James
linked information resource: NF2 gene analysis distinguishes hemangiopericytoma from meningioma.

Authorship 184185
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linked author: Gusella, James
linked information resource: Assay by polymerase chain reaction (PCR) of multi-allele polymorphisms in the Huntington's disease region of chromosome 4.

Authorship 185257
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linked author: Gusella, James
linked information resource: Is the disruption of an N-myristoyltransferase (NMT2) associated with hypoplastic testes?

Authorship 183041
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author rank in publication: 10
linked author: Gusella, James
linked information resource: Prevalence of Huntington's disease gene CAG repeat alleles in sporadic amyotrophic lateral sclerosis patients.

Authorship 183790
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linked author: Gusella, James
linked information resource: Two independent dinucleotide repeat polymorphisms at the D21S235 locus (21q22.1).

Authorship 1282511
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linked author: Gusella, James
linked information resource: Promotion of somatic CAG repeat expansion by Fan1 knock-out in Huntington's disease knock-in mice is blocked by Mlh1 knock-out.

Promotion of somatic CAG repeat expansion by Fan1 knock-out in Huntington's disease knock-in mice is blocked by Mlh1 knock-out.
PubMed Identifier: 32876667
author list: Loupe JM, Pinto RM, Kim KH, Gillis T, Mysore JS, Andrew MA, Kovalenko M, Murtha R, Seong I, Gusella JF, Kwak S, Howland D, Lee R, Lee JM, Wheeler VC, MacDonald ME
published in: Human molecular genetics
information resource reference: Promotion of somatic CAG repeat expansion by Fan1 knock-out in Huntington's disease knock-in mice is blocked by Mlh1 knock-out. Hum Mol Genet. 2020 11 04; 29(18):3044-3053.
journal title abbreviation: Hum Mol Genet
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Authorship 185719
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linked information resource: A functional assay for heterozygous mutations in the GTPase activating protein related domain of the neurofibromatosis type 1 gene.

Authorship 143462
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linked author: Gusella, James
linked information resource: Location cloning strategy for characterizing genetic defects in Huntington's disease and Alzheimer's disease.

Mclean, Zachariah
eCommons Login: zam488
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last name: Mclean
full name: Zachariah Louis Mclean, Ph.D.
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person in primary position: Instructor in Neurology
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Authorship 200327
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author rank in publication: 9
linked author: Gusella, James
linked information resource: New DNA markers in the Huntington's disease gene candidate region.

Authorship 190981
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author rank in publication: 11
linked author: Gusella, James
linked information resource: Disruption of diacylglycerol kinase delta (DGKD) associated with seizures in humans and mice.

Authorship 140350
type: Authorship
author rank in publication: 14
linked author: Gusella, James
linked information resource: Clinical diagnosis by whole-genome sequencing of a prenatal sample.

Authorship 1308266
type: Authorship
author rank in publication: 6
linked author: Gusella, James
linked information resource: mTOR kinase inhibition disrupts neuregulin 1-ERBB3 autocrine signaling and sensitizes NF2-deficient meningioma cellular models to IGF1R inhibition.

mTOR kinase inhibition disrupts neuregulin 1-ERBB3 autocrine signaling and sensitizes NF2-deficient meningioma cellular models to IGF1R inhibition.
PubMed Identifier: 33273014
author list: Beauchamp RL, Erdin S, Witt L, Jordan JT, Plotkin SR, Gusella JF, Ramesh V
published in: The Journal of biological chemistry
information resource reference: mTOR kinase inhibition disrupts neuregulin 1-ERBB3 autocrine signaling and sensitizes NF2-deficient meningioma cellular models to IGF1R inhibition. J Biol Chem. 2021 Jan-Jun; 296:100157.
journal title abbreviation: J Biol Chem
publication date: 2020-12-09T00:00:00
year: 2020
type: Academic Article
type: Article
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Authorship 147456
type: Authorship
author rank in publication: 32
linked author: Gusella, James
linked information resource: Absence of previously reported variants in the SCNA (G88C and G209A), NR4A2 (T291D and T245G) and the DJ-1 (T497C) genes in familial Parkinson's disease from the GenePD study.

Authorship 210719
type: Authorship
author rank in publication: 34
linked author: Gusella, James
linked information resource: Genetic linkage studies suggest that Alzheimer's disease is not a single homogeneous disorder.

Authorship 149031
type: Authorship
author rank in publication: 30
linked author: Gusella, James
linked information resource: PARK3 influences age at onset in Parkinson disease: a genome scan in the GenePD study.

Authorship 1316253
type: Authorship
author rank in publication: 38
linked author: Gusella, James
linked information resource: CNV profiles of Chinese pediatric patients with developmental disorders.

CNV profiles of Chinese pediatric patients with developmental disorders.
PubMed Identifier: 33402738
author list: Yuan H, Shangguan S, Li Z, Luo J, Su J, Yao R, Zhang S, Liang C, Chen Q, Gao Z, Zhu Y, Zhang S, Li W, Lu W, Zhang Y, Xie H, Liu F, Wang Q, Lin Y, Liu L, Wang X, Liang L, Zhong J, Li H, Qiu H, Zhang H, Yan M, Mireguli M, Liu Y, Zhang D, Wang H, Lv H, Xie B, Gui C, Cui X, Zou L, Wang J, Gusella JF, Shen Y, Chen X
published in: Genetics in medicine : official journal of the American College of Medical Genetics
information resource reference: CNV profiles of Chinese pediatric patients with developmental disorders. Genet Med. 2021 04; 23(4):669-678.
journal title abbreviation: Genet Med
publication date: 2021-01-05T00:00:00
year: 2021
type: Academic Article
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Authorship 155523
type: Authorship
author rank in publication: 5
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linked information resource: Frequency and distribution of NF2 mutations in schwannomas.

Authorship 1322820
type: Authorship
author rank in publication: 19
linked author: Gusella, James
linked information resource: Mutations causing Lopes-Maciel-Rodan syndrome are huntingtin hypomorphs.

Authorship 1322981
type: Authorship
author rank in publication: 6
linked author: Gusella, James
linked information resource: mTOR kinase inhibition disrupts neuregulin 1-ERBB3 autocrine signaling and sensitizes NF2-deficient meningioma cellular models to IGF1R inhibition.

Mutations causing Lopes-Maciel-Rodan syndrome are huntingtin hypomorphs.
PubMed Identifier: 33432339
author list: Jung R, Lee Y, Barker D, Correia K, Shin B, Loupe J, Collins RL, Lucente D, Ruliera J, Gillis T, Mysore JS, Rodan L, Picker J, Lee JM, Howland D, Lee R, Kwak S, MacDonald ME, Gusella JF, Seong IS
published in: Human molecular genetics
information resource reference: Mutations causing Lopes-Maciel-Rodan syndrome are huntingtin hypomorphs. Hum Mol Genet. 2021 04 26; 30(3-4):135-148.
journal title abbreviation: Hum Mol Genet
publication date: 2021-04-26T00:00:00
year: 2021
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mTOR kinase inhibition disrupts neuregulin 1-ERBB3 autocrine signaling and sensitizes NF2-deficient meningioma cellular models to IGF1R inhibition.
PubMed Identifier: 33461953
author list: Beauchamp RL, Erdin S, Witt L, Jordan JT, Plotkin SR, Gusella JF, Ramesh V
published in: The Journal of biological chemistry
information resource reference: mTOR kinase inhibition disrupts neuregulin 1-ERBB3 autocrine signaling and sensitizes NF2-deficient meningioma cellular models to IGF1R inhibition. J Biol Chem. 2020 Dec 09; 296:100157.
journal title abbreviation: J Biol Chem
publication date: 2020-12-09T00:00:00
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Authorship 196137
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author rank in publication: 9
linked author: Gusella, James
linked information resource: CEPH consortium Map of chromosome 9.

Authorship 161363
type: Authorship
author rank in publication: 40
linked author: Gusella, James
linked information resource: Haploinsufficiency of SOX5 at 12p12.1 is associated with developmental delays with prominent language delay, behavior problems, and mild dysmorphic features.

Authorship 1328431
type: Authorship
author rank in publication: 10
linked author: Gusella, James
linked information resource: Huntington's Disease Pathogenesis: Two Sequential Components.

Huntington's Disease Pathogenesis: Two Sequential Components.
PubMed Identifier: 33579862
author list: Hong EP, MacDonald ME, Wheeler VC, Jones L, Holmans P, Orth M, Monckton DG, Long JD, Kwak S, Gusella JF, Lee JM
published in: Journal of Huntington's disease
information resource reference: Huntington's Disease Pathogenesis: Two Sequential Components. J Huntingtons Dis. 2021; 10(1):35-51.
journal title abbreviation: J Huntingtons Dis
publication date: 2021-01-01T00:00:00
year: 2021
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 197900
type: Authorship
author rank in publication: 3
linked author: Gusella, James
linked information resource: Detailed genetic linkage map of human chromosome 21: patterns of recombination according to age and sex.

Authorship 1341713
type: Authorship
author rank in publication: 2
linked author: Gusella, James
linked information resource: Timing and Impact of Psychiatric, Cognitive, and Motor Abnormalities in Huntington Disease.

Timing and Impact of Psychiatric, Cognitive, and Motor Abnormalities in Huntington Disease.
PubMed Identifier: 33766994
author list: McAllister B, Gusella JF, Landwehrmeyer GB, Lee JM, MacDonald ME, Orth M, Rosser AE, Williams NM, Holmans P, Jones L, Massey TH
published in: Neurology
information resource reference: Timing and Impact of Psychiatric, Cognitive, and Motor Abnormalities in Huntington Disease. Neurology. 2021 05 11; 96(19):e2395-e2406.
journal title abbreviation: Neurology
publication date: 2021-03-25T00:00:00
year: 2021
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 145682
type: Authorship
author rank in publication: 9
linked author: Gusella, James
linked information resource: Complex patterns of linkage disequilibrium in the Huntington disease region.

Authorship 170662
type: Authorship
author rank in publication: 4
linked author: Gusella, James
linked information resource: Huntington disease in Finland: linkage disequilibrium of chromosome 4 RFLP haplotypes and exclusion of a tight linkage between the disease and D4S43 locus.

Authorship 1354928
type: Authorship
author rank in publication: 7
linked author: Gusella, James
linked information resource: 16p11.2 deletion is associated with hyperactivation of human iPSC-derived dopaminergic neuron networks and is rescued by RHOA inhibition in vitro.

16p11.2 deletion is associated with hyperactivation of human iPSC-derived dopaminergic neuron networks and is rescued by RHOA inhibition in vitro.
PubMed Identifier: 34006844
author list: Sundberg M, Pinson H, Smith RS, Winden KD, Venugopal P, Tai DJC, Gusella JF, Talkowski ME, Walsh CA, Tegmark M, Sahin M
published in: Nature communications
information resource reference: 16p11.2 deletion is associated with hyperactivation of human iPSC-derived dopaminergic neuron networks and is rescued by RHOA inhibition in vitro. Nat Commun. 2021 05 18; 12(1):2897.
journal title abbreviation: Nat Commun
publication date: 2021-05-18T00:00:00
year: 2021
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 1512
type: Authorship
author rank in publication: 9
linked author: Gusella, James
linked information resource: A genetic linkage map of the chromosome 4 short arm.

Authorship 179017
type: Authorship
author rank in publication: 6
linked author: Gusella, James
linked information resource: Huntingtin's WW domain partners in Huntington's disease post-mortem brain fulfill genetic criteria for direct involvement in Huntington's disease pathogenesis.

Authorship 18149
type: Authorship
author rank in publication: 4
linked author: Gusella, James
linked information resource: CAG repeat number governs the development rate of pathology in Huntington's disease.

Authorship 1371027
type: Authorship
author rank in publication: 1
linked author: Gusella, James
linked information resource: Huntington's disease: nearly four decades of human molecular genetics.

Authorship 1372089
type: Authorship
author rank in publication: 16
linked author: Gusella, James
linked information resource: Association Analysis of Chromosome X to Identify Genetic Modifiers of Huntington's Disease.

Huntington's disease: nearly four decades of human molecular genetics.
PubMed Identifier: 34169318
author list: Gusella JF, Lee JM, MacDonald ME
published in: Human molecular genetics
information resource reference: Huntington's disease: nearly four decades of human molecular genetics. Hum Mol Genet. 2021 10 01; 30(R2):R254-R263.
journal title abbreviation: Hum Mol Genet
publication date: 2021-10-01T00:00:00
year: 2021
type: Academic Article
type: Article
type: Document
type: Information Resource

Association Analysis of Chromosome X to Identify Genetic Modifiers of Huntington's Disease.
PubMed Identifier: 34180418
author list: Hong EP, Chao MJ, Massey T, McAllister B, Lobanov S, Jones L, Holmans P, Kwak S, Orth M, Ciosi M, Monckton DG, Long JD, Lucente D, Wheeler VC, MacDonald ME, Gusella JF, Lee JM
published in: Journal of Huntington's disease
information resource reference: Association Analysis of Chromosome X to Identify Genetic Modifiers of Huntington's Disease. J Huntingtons Dis. 2021; 10(3):367-375.
journal title abbreviation: J Huntingtons Dis
publication date: 2021-01-01T00:00:00
year: 2021
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 183679
type: Authorship
author rank in publication: 7
linked author: Gusella, James
linked information resource: Allelic expression of the NF2 gene in neurofibromatosis 2 and schwannomatosis.

Authorship 1375908
type: Authorship
author rank in publication: 33
linked author: Gusella, James
linked information resource: Brigatinib causes tumor shrinkage in both NF2-deficient meningioma and schwannoma through inhibition of multiple tyrosine kinases but not ALK.

Brigatinib causes tumor shrinkage in both NF2-deficient meningioma and schwannoma through inhibition of multiple tyrosine kinases but not ALK.
PubMed Identifier: 34264955
author list: Chang LS, Oblinger JL, Smith AE, Ferrer M, Angus SP, Hawley E, Petrilli AM, Beauchamp RL, Riecken LB, Erdin S, Poi M, Huang J, Bessler WK, Zhang X, Guha R, Thomas C, Burns SS, Gilbert TSK, Jiang L, Li X, Lu Q, Yuan J, He Y, Dixon SAH, Masters A, Jones DR, Yates CW, Haggarty SJ, La Rosa S, Welling DB, Stemmer-Rachamimov AO, Plotkin SR, Gusella JF, Guinney J, Morrison H, Ramesh V, Fernandez-Valle C, Johnson GL, Blakeley JO, Clapp DW
published in: PloS one
information resource reference: Brigatinib causes tumor shrinkage in both NF2-deficient meningioma and schwannoma through inhibition of multiple tyrosine kinases but not ALK. PLoS One. 2021; 16(7):e0252048.
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publication date: 2021-07-15T00:00:00
year: 2021
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 188154
type: Authorship
author rank in publication: 6
linked author: Gusella, James
linked information resource: Serial changes of cerebral glucose metabolism and caudate size in persons at risk for Huntington's disease.

Authorship 1388262
type: Authorship
author rank in publication: 13
linked author: Gusella, James
linked information resource: A Multi-Omic Huntington's Disease Transgenic Sheep-Model Database for Investigating Disease Pathogenesis.

A Multi-Omic Huntington's Disease Transgenic Sheep-Model Database for Investigating Disease Pathogenesis.
PubMed Identifier: 34420978
author list: Mears ER, Handley RR, Grant MJ, Reid SJ, Day BT, Rudiger SR, McLaughlan CJ, Verma PJ, Bawden SC, Patassini S, Unwin RD, Cooper GJS, Gusella JF, MacDonald ME, Brauning R, Maclean P, Pearson JF, Waldvogel HJ, Faull RLM, Snell RG
published in: Journal of Huntington's disease
information resource reference: A Multi-Omic Huntington's Disease Transgenic Sheep-Model Database for Investigating Disease Pathogenesis. J Huntingtons Dis. 2021; 10(4):423-434.
journal title abbreviation: J Huntingtons Dis
publication date: 2021-01-01T00:00:00
year: 2021
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 176864
type: Authorship
author rank in publication: 9
linked author: Gusella, James
linked information resource: The CEPH consortium linkage map of human chromosome 16.

Authorship 1405224
type: Authorship
author rank in publication: 9
linked author: Gusella, James
linked information resource: Dystonia-specific mutations in THAP1 alter transcription of genes associated with neurodevelopment and myelin.

Dystonia-specific mutations in THAP1 alter transcription of genes associated with neurodevelopment and myelin.
PubMed Identifier: 34672987
author list: Domingo A, Yadav R, Shah S, Hendriks WT, Erdin S, Gao D, O'Keefe K, Currall B, Gusella JF, Sharma N, Ozelius LJ, Ehrlich ME, Talkowski ME, Bragg DC
published in: American journal of human genetics
information resource reference: Dystonia-specific mutations in THAP1 alter transcription of genes associated with neurodevelopment and myelin. Am J Hum Genet. 2021 11 04; 108(11):2145-2158.
journal title abbreviation: Am J Hum Genet
publication date: 2021-10-20T00:00:00
year: 2021
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 215867
type: Authorship
author rank in publication: 3
linked author: Gusella, James
linked information resource: Chromosomal localization of the gene for human B-cell antigen CD40.

Authorship 21864
type: Authorship
author rank in publication: 8
linked author: Gusella, James
linked information resource: A genetic linkage map of chromosome 17.

Authorship 15794
type: Authorship
author rank in publication: 2
linked author: Gusella, James
linked information resource: Molecular detection of a 4p deletion using PCR-based polymorphisms: a technique for the rapid detection of the Wolf-Hirschhorn syndrome.

Authorship 232857
type: Authorship
author rank in publication: 7
linked author: Gusella, James
linked information resource: Neurofibromatosis 2 gene in human colorectal cancer.

Authorship 198086
type: Authorship
author rank in publication: 47
linked author: Gusella, James
linked information resource: Human chromosome 7: DNA sequence and biology.

Authorship 216379
type: Authorship
author rank in publication: 4
linked author: Gusella, James
linked information resource: https://connects.catalyst.harvard.edu/Profiles/profile/746638

Authorship 217783
type: Authorship
author rank in publication: 10
linked author: Gusella, James
linked information resource: Genetic linkage between Huntington's disease and the DNA polymorphism G8 in South Wales families.

Authorship 228800
type: Authorship
author rank in publication: 7
linked author: Gusella, James
linked information resource: Genetic linkage studies in autosomal dominant parkinsonism: evaluation of seven candidate genes.

Authorship 255444
type: Authorship
author rank in publication: 8
linked author: Gusella, James
linked information resource: Genetic linkage studies in autosomal dominantly inherited L-DOPA responsive parkinsonism. Evaluation of candidate genes.

Authorship 1439400
type: Authorship
author rank in publication: 28
linked author: Gusella, James
linked information resource: Genetic modifiers of Huntington disease differentially influence motor and cognitive domains.

Genetic modifiers of Huntington disease differentially influence motor and cognitive domains.
PubMed Identifier: 35325614
author list: Lee JM, Huang Y, Orth M, Gillis T, Siciliano J, Hong E, Mysore JS, Lucente D, Wheeler VC, Seong IS, McLean ZL, Mills JA, McAllister B, Lobanov SV, Massey TH, Ciosi M, Landwehrmeyer GB, Paulsen JS, Dorsey ER, Shoulson I, Sampaio C, Monckton DG, Kwak S, Holmans P, Jones L, MacDonald ME, Long JD, Gusella JF
published in: American journal of human genetics
information resource reference: Genetic modifiers of Huntington disease differentially influence motor and cognitive domains. Am J Hum Genet. 2022 05 05; 109(5):885-899.
journal title abbreviation: Am J Hum Genet
publication date: 2022-03-23T00:00:00
year: 2022
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 1449340
type: Authorship
author rank in publication: 29
linked author: Gusella, James
linked information resource: Exome sequencing of individuals with Huntington's disease implicates FAN1 nuclease activity in slowing CAG expansion and disease onset.

Exome sequencing of individuals with Huntington's disease implicates FAN1 nuclease activity in slowing CAG expansion and disease onset.
PubMed Identifier: 35379994
author list: McAllister B, Donaldson J, Binda CS, Powell S, Chughtai U, Edwards G, Stone J, Lobanov S, Elliston L, Schuhmacher LN, Rees E, Menzies G, Ciosi M, Maxwell A, Chao MJ, Hong EP, Lucente D, Wheeler V, Lee JM, MacDonald ME, Long JD, Aylward EH, Landwehrmeyer GB, Rosser AE, Paulsen JS, Williams NM, Gusella JF, Monckton DG, Allen ND, Holmans P, Jones L, Massey TH
published in: Nature neuroscience
information resource reference: Exome sequencing of individuals with Huntington's disease implicates FAN1 nuclease activity in slowing CAG expansion and disease onset. Nat Neurosci. 2022 04; 25(4):446-457.
journal title abbreviation: Nat Neurosci
publication date: 2022-04-04T00:00:00
year: 2022
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 337825
type: Authorship
author rank in publication: 9
linked author: Gusella, James
linked information resource: Frequent loss of chromosome 14 in atypical and malignant meningioma: identification of a putative 'tumor progression' locus.

Authorship 348944
type: Authorship
author rank in publication: 6
linked author: Gusella, James
linked information resource: Localization of the ornithine aminotransferase gene and related sequences on two human chromosomes.

Authorship 376387
type: Authorship
author rank in publication: 7
linked author: Gusella, James
linked information resource: Linkage analysis in familial Alzheimer disease: description of the Duke and Boston data sets.

Authorship 388163
type: Authorship
author rank in publication: 6
linked author: Gusella, James
linked information resource: Neurofibromatosis type 1 gene mutations in neuroblastoma.

Authorship 169780
type: Authorship
author rank in publication: 2
linked author: Gusella, James
linked information resource: Valuable libraries.

Authorship 1464634
type: Authorship
author rank in publication: 18
linked author: Gusella, James
linked information resource: Orgo-Seq integrates single-cell and bulk transcriptomic data to identify cell type specific-driver genes associated with autism spectrum disorder.

Authorship 1465399
type: Authorship
author rank in publication: 3
linked author: Gusella, James
linked information resource: Inherited HTT CAG repeat length does not have a major impact on Huntington disease duration.

Orgo-Seq integrates single-cell and bulk transcriptomic data to identify cell type specific-driver genes associated with autism spectrum disorder.
PubMed Identifier: 35688811
author list: Lim ET, Chan Y, Dawes P, Guo X, Erdin S, Tai DJC, Liu S, Reichert JM, Burns MJ, Chan YK, Chiang JJ, Meyer K, Zhang X, Walsh CA, Yankner BA, Raychaudhuri S, Hirschhorn JN, Gusella JF, Talkowski ME, Church GM
published in: Nature communications
information resource reference: Orgo-Seq integrates single-cell and bulk transcriptomic data to identify cell type specific-driver genes associated with autism spectrum disorder. Nat Commun. 2022 06 10; 13(1):3243.
journal title abbreviation: Nat Commun
publication date: 2022-06-10T00:00:00
year: 2022
type: Academic Article
type: Article
type: Document
type: Information Resource

Inherited HTT CAG repeat length does not have a major impact on Huntington disease duration.
PubMed Identifier: 35803234
author list: Lee JM, MacDonald ME, Gusella JF
published in: American journal of human genetics
information resource reference: Inherited HTT CAG repeat length does not have a major impact on Huntington disease duration. Am J Hum Genet. 2022 07 07; 109(7):1338-1340.
journal title abbreviation: Am J Hum Genet
publication date: 2022-07-07T00:00:00
year: 2022
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 165435
type: Authorship
author rank in publication: 9
linked author: Gusella, James
linked information resource: Copy number variation in familial Parkinson disease.

Authorship 413330
type: Authorship
author rank in publication: 3
linked author: Gusella, James
linked information resource: A DNA probe, D5 [D4S90] mapping to human chromosome 4p16.3.

Transcriptional and functional consequences of alterations to MEF2C and its topological organization in neuronal models.
PubMed Identifier: 36283406
author list: Mohajeri K, Yadav R, D'haene E, Boone PM, Erdin S, Gao D, Moyses-Oliveira M, Bhavsar R, Currall BB, O'Keefe K, Burt ND, Lowther C, Lucente D, Salani M, Larson M, Redin C, Dudchenko O, Aiden EL, Menten B, Tai DJC, Gusella JF, Vergult S, Talkowski ME
published in: American journal of human genetics
information resource reference: Transcriptional and functional consequences of alterations to MEF2C and its topological organization in neuronal models. Am J Hum Genet. 2022 11 03; 109(11):2049-2067.
journal title abbreviation: Am J Hum Genet
publication date: 2022-10-24T00:00:00
year: 2022
type: Academic Article
type: Article
type: Document
type: Information Resource

Tissue- and cell-type-specific molecular and functional signatures of 16p11.2 reciprocal genomic disorder across mouse brain and human neuronal models.
PubMed Identifier: 36152629
author list: Tai DJC, Razaz P, Erdin S, Gao D, Wang J, Nuttle X, de Esch CE, Collins RL, Currall BB, O'Keefe K, Burt ND, Yadav R, Wang L, Mohajeri K, Aneichyk T, Ragavendran A, Stortchevoi A, Morini E, Ma W, Lucente D, Hastie A, Kelleher RJ, Perlis RH, Talkowski ME, Gusella JF
published in: American journal of human genetics
information resource reference: Tissue- and cell-type-specific molecular and functional signatures of 16p11.2 reciprocal genomic disorder across mouse brain and human neuronal models. Am J Hum Genet. 2022 10 06; 109(10):1789-1813.
journal title abbreviation: Am J Hum Genet
publication date: 2022-09-23T00:00:00
year: 2022
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 427862
type: Authorship
author rank in publication: 8
linked author: Gusella, James
linked information resource: Analysis of germline mutation spectra at the Huntington's disease locus supports a mitotic mutation mechanism.

Authorship 1488995
type: Authorship
author rank in publication: 32
linked author: Gusella, James
linked information resource: A cross-disorder dosage sensitivity map of the human genome.

Authorship 1483812
type: Authorship
author rank in publication: 25
linked author: Gusella, James
linked information resource: Tissue- and cell-type-specific molecular and functional signatures of 16p11.2 reciprocal genomic disorder across mouse brain and human neuronal models.

Authorship 1485522
type: Authorship
author rank in publication: 12
linked author: Gusella, James
linked information resource: Huntington's disease age at motor onset is modified by the tandem hexamer repeat in TCERG1.

Authorship 1496197
type: Authorship
author rank in publication: 21
linked author: Gusella, James
linked information resource: Transcriptional and functional consequences of alterations to MEF2C and its topological organization in neuronal models.

Huntington's disease age at motor onset is modified by the tandem hexamer repeat in TCERG1.
PubMed Identifier: 36064847
author list: Lobanov SV, McAllister B, McDade-Kumar M, Landwehrmeyer GB, Orth M, Rosser AE, Paulsen JS, Lee JM, MacDonald ME, Gusella JF, Long JD, Ryten M, Williams NM, Holmans P, Massey TH, Jones L
published in: NPJ genomic medicine
information resource reference: Huntington's disease age at motor onset is modified by the tandem hexamer repeat in TCERG1. NPJ Genom Med. 2022 Sep 05; 7(1):53.
journal title abbreviation: NPJ Genom Med
publication date: 2022-09-05T00:00:00
year: 2022
type: Academic Article
type: Article
type: Document
type: Information Resource

A cross-disorder dosage sensitivity map of the human genome.
PubMed Identifier: 35917817
author list: Collins RL, Glessner JT, Porcu E, Lepamets M, Brandon R, Lauricella C, Han L, Morley T, Niestroj LM, Ulirsch J, Everett S, Howrigan DP, Boone PM, Fu J, Karczewski KJ, Kellaris G, Lowther C, Lucente D, Mohajeri K, Nõukas M, Nuttle X, Samocha KE, Trinh M, Ullah F, Võsa U, Hurles ME, Aradhya S, Davis EE, Finucane H, Gusella JF, Janze A, Katsanis N, Matyakhina L, Neale BM, Sanders D, Warren S, Hodge JC, Lal D, Ruderfer DM, Meck J, Mägi R, Esko T, Reymond A, Kutalik Z, Hakonarson H, Sunyaev S, Brand H, Talkowski ME
published in: Cell
information resource reference: A cross-disorder dosage sensitivity map of the human genome. Cell. 2022 08 04; 185(16):3041-3055.e25.
journal title abbreviation: Cell
publication date: 2022-08-01T00:00:00
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type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 448096
type: Authorship
author rank in publication: 10
linked author: Gusella, James
linked information resource: Genetic variation in the 3' untranslated region of the neurofibromatosis 1 gene: application to unequal allelic expression.

Authorship 459215
type: Authorship
author rank in publication: 34
linked author: Gusella, James
linked information resource: BDNF genetic variants are associated with onset age of familial Parkinson disease: GenePD Study.

Authorship 465225
type: Authorship
author rank in publication: 4
linked author: Gusella, James
linked information resource: Magicin associates with the Src-family kinases and is phosphorylated upon CD3 stimulation.

Authorship 20707
type: Authorship
author rank in publication: 10
linked author: Gusella, James
linked information resource: A yeast artificial chromosome telomere clone spanning a possible location of the Huntington disease gene.

Authorship 1511147
type: Authorship
author rank in publication: 15
linked author: Gusella, James
linked information resource: CHD8 suppression impacts on histone H3 lysine 36 trimethylation and alters RNA alternative splicing.

CHD8 suppression impacts on histone H3 lysine 36 trimethylation and alters RNA alternative splicing.
PubMed Identifier: 36537238
author list: Kerschbamer E, Arnoldi M, Tripathi T, Pellegrini M, Maturi S, Erdin S, Salviato E, Di Leva F, Sebestyén E, Dassi E, Zarantonello G, Benelli M, Campos E, Basson MA, Gusella JF, Gustincich S, Piazza S, Demichelis F, Talkowski ME, Ferrari F, Biagioli M
published in: Nucleic acids research
information resource reference: CHD8 suppression impacts on histone H3 lysine 36 trimethylation and alters RNA alternative splicing. Nucleic Acids Res. 2022 12 09; 50(22):12809-12828.
journal title abbreviation: Nucleic Acids Res
publication date: 2022-12-09T00:00:00
year: 2022
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 210452
type: Authorship
author rank in publication: 7
linked author: Gusella, James
linked information resource: Psychiatric, genetic, and positron emission tomographic evaluation of persons at risk for Huntington's disease.

Authorship 215939
type: Authorship
author rank in publication: 6
linked author: Gusella, James
linked information resource: Mutant huntingtin forms in vivo complexes with distinct context-dependent conformations of the polyglutamine segment.

Authorship 216493
type: Authorship
author rank in publication: 8
linked author: Gusella, James
linked information resource: A locus for cerebral cavernous malformations maps to chromosome 7q in two families.

Authorship 1528601
type: Authorship
author rank in publication: 36
linked author: Gusella, James
linked information resource: Haplotype-specific MAPK3 expression in 16p11.2 deletion contributes to variable neurodevelopment.

Haplotype-specific MAPK3 expression in 16p11.2 deletion contributes to variable neurodevelopment.
PubMed Identifier: 36869767
author list: Liu F, Liang C, Li Z, Zhao S, Yuan H, Yao R, Qin Z, Shangguan S, Zhang S, Zou LP, Chen Q, Gao Z, Wen S, Peng J, Yin F, Chen F, Qiu X, Luo J, Xie Y, Lu D, Zhang Y, Xie H, Li G, Zhang TJ, Luan P, Wang H, Cui X, Huang H, Liu R, Sun X, Chen C, Wu N, Wang J, Liu C, Shen Y, Gusella JF, Chen X
published in: Brain : a journal of neurology
information resource reference: Haplotype-specific MAPK3 expression in 16p11.2 deletion contributes to variable neurodevelopment. Brain. 2023 08 01; 146(8):3347-3363.
journal title abbreviation: Brain
publication date: 2023-08-01T00:00:00
year: 2023
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 207497
type: Authorship
author rank in publication: 5
linked author: Gusella, James
linked information resource: A gene encoding a fibroblast growth factor receptor isolated from the Huntington disease gene region of human chromosome 4.

Authorship 184526
type: Authorship
author rank in publication: 35
linked author: Gusella, James
linked information resource: Translocations disrupting PHF21A in the Potocki-Shaffer-syndrome region are associated with intellectual disability and craniofacial anomalies.

Authorship 47354
type: Authorship
author rank in publication: 7
linked author: Gusella, James
linked information resource: Molecular confirmation of Wolf-Hirschhorn syndrome with a subtle translocation of chromosome 4.

Authorship 500255
type: Authorship
author rank in publication: 2
linked author: Gusella, James
linked information resource: Huntington's disease. Pathogenesis and management.

Chung, Wendy
eCommons Login: wec138
first name: Wendy
last name: Chung
full name: Wendy Chung, M.D., Ph.D.
has faculty rank: Full Professor
Person ID: 214837
person in primary position: Mary Ellen Avery Professor of Pediatrics
type: Agent
type: Person
preferred title: Mary Ellen Avery Professor of Pediatrics

Authorship 278800
type: Authorship
author rank in publication: 5
linked author: Gusella, James
linked information resource: Mapping of a human A2a adenosine receptor (ADORA2) to chromosome 22.

Authorship 1564226
type: Authorship
author rank in publication: 11
linked author: Gusella, James
linked information resource: A Cdk5-derived peptide inhibits Cdk5/p25 activity and improves neurodegenerative phenotypes.

A Cdk5-derived peptide inhibits Cdk5/p25 activity and improves neurodegenerative phenotypes.
PubMed Identifier: 37043533
author list: Pao PC, Seo J, Lee A, Kritskiy O, Patnaik D, Penney J, Raju RM, Geigenmuller U, Silva MC, Lucente DE, Gusella JF, Dickerson BC, Loon A, Yu MX, Bula M, Yu M, Haggarty SJ, Tsai LH
published in: Proceedings of the National Academy of Sciences of the United States of America
information resource reference: A Cdk5-derived peptide inhibits Cdk5/p25 activity and improves neurodegenerative phenotypes. Proc Natl Acad Sci U S A. 2023 04 18; 120(16):e2217864120.
journal title abbreviation: Proc Natl Acad Sci U S A
publication date: 2023-04-12T00:00:00
year: 2023
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 302314
type: Authorship
author rank in publication: 6
linked author: Gusella, James
linked information resource: Molecular characterization of a second melatonin receptor expressed in human retina and brain: the Mel1b melatonin receptor.

Authorship 303503
type: Authorship
author rank in publication: 7
linked author: Gusella, James
linked information resource: An improved approach to prepare human brains for research.

Authorship 324394
type: Authorship
author rank in publication: 7
linked author: Gusella, James
linked information resource: Prenatal diagnostic testing for familial dysautonomia using linked genetic markers.

Authorship 327008
type: Authorship
author rank in publication: 41
linked author: Gusella, James
linked information resource: TAA repeat variation in the GRIK2 gene does not influence age at onset in Huntington's disease.

Authorship 339596
type: Authorship
author rank in publication: 37
linked author: Gusella, James
linked information resource: A genome scan for modifiers of age at onset in Huntington disease: The HD MAPS study.

Authorship 1593151
type: Authorship
author rank in publication: 18
linked author: Gusella, James
linked information resource: PMS1 as a target for splice modulation to prevent somatic CAG repeat expansion in Huntington's disease.

PMS1 as a target for splice modulation to prevent somatic CAG repeat expansion in Huntington's disease.
PubMed Identifier: 37547003
author list: McLean ZL, Gao D, Correia K, Roy JCL, Shibata S, Farnum IN, Valdepenas-Mellor Z, Rapuru M, Morini E, Ruliera J, Gillis T, Lucente D, Kleinstiver BP, Lee JM, MacDonald ME, Wheeler VC, Pinto RM, Gusella JF
published in: bioRxiv : the preprint server for biology
information resource reference: PMS1 as a target for splice modulation to prevent somatic CAG repeat expansion in Huntington's disease. bioRxiv. 2023 Jul 27.
journal title abbreviation: bioRxiv
publication date: 2023-07-27T00:00:00
year: 2023
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 416158
type: Authorship
author rank in publication: 10
linked author: Gusella, James
linked information resource: Single sperm analysis of the trinucleotide repeats in the Huntington's disease gene: quantification of the mutation frequency spectrum.

Authorship 417465
type: Authorship
author rank in publication: 3
linked author: Gusella, James
linked information resource: Molecular genetic approaches to Alzheimer's disease.

Authorship 422458
type: Authorship
author rank in publication: 36
linked author: Gusella, James
linked information resource: Herbicide exposure modifies GSTP1 haplotype association to Parkinson onset age: the GenePD Study.

Authorship 447404
type: Authorship
author rank in publication: 8
linked author: Gusella, James
linked information resource: Universal absence of merlin, but not other ERM family members, in schwannomas.

Authorship 448320
type: Authorship
author rank in publication: 1
linked author: Gusella, James
linked information resource: Hemin does not cause commitment of murine erythroleukemia (MEL) cells to terminal differentiation.

Authorship 180585
type: Authorship
author rank in publication: 6
linked author: Gusella, James
linked information resource: Molecular genetics of an autosomal dominant form of torsion dystonia.

Authorship 189651
type: Authorship
author rank in publication: 1
linked author: Gusella, James
linked information resource: Huntington's disease: CAG genetics expands neurobiology.

Authorship 1615499
type: Authorship
author rank in publication: 10
linked author: Gusella, James
linked information resource: Parallelized engineering of mutational models using piggyBac transposon delivery of CRISPR libraries.

Parallelized engineering of mutational models using piggyBac transposon delivery of CRISPR libraries.
PubMed Identifier: 38091988
author list: Nuttle X, Burt ND, Currall B, Moysés-Oliveira M, Mohajeri K, Bhavsar R, Lucente D, Yadav R, Tai DJC, Gusella JF, Talkowski ME
published in: Cell reports methods
information resource reference: Parallelized engineering of mutational models using piggyBac transposon delivery of CRISPR libraries. Cell Rep Methods. 2024 Jan 22; 4(1):100672.
journal title abbreviation: Cell Rep Methods
publication date: 2023-12-12T00:00:00
year: 2023
type: Academic Article
type: Article
type: Document
type: Information Resource

Genetic Mechanisms Controlling Resilience to Huntington's Disease
end date: 2026-11-30
principal investigator name: KACZOROWSKI, CATHERINE COOK
start date: 2021-12-01
type: Grant
sponsor award id: R01NS125742

Co-Principal Investigator
type: Researcher Role
researcher role of: Gusella, James
contributes to: Genetic Mechanisms Controlling Resilience to Huntington's Disease

Authorship 530024
type: Authorship
author rank in publication: 2
linked author: Gusella, James
linked information resource: Inhibition by dexamethasone of commitment to erythroid differentiation in murine erythroleukemia cells.

Authorship 532144
type: Authorship
author rank in publication: 14
linked author: Gusella, James
linked information resource: Cloning, mapping, and expression of a novel brain-specific transcript in the familial dysautonomia candidate region on chromosome 9q31.

Authorship 538401
type: Authorship
author rank in publication: 10
linked author: Gusella, James
linked information resource: Genomewide association study for onset age in Parkinson disease.

Authorship 1633988
type: Authorship
author rank in publication: 25
linked author: Gusella, James
linked information resource: Tissue- and cell-type-specific molecular and functional signatures of 16p11.2 reciprocal genomic disorder across mouse brain and human neuronal models.

Authorship 1634755
type: Authorship
author rank in publication: 20
linked author: Gusella, James
linked information resource: Modification of Huntington's disease by short tandem repeats.

Tissue- and cell-type-specific molecular and functional signatures of 16p11.2 reciprocal genomic disorder across mouse brain and human neuronal models.
PubMed Identifier: 38458168
author list: Tai DJC, Razaz P, Erdin S, Gao D, Wang J, Nuttle X, de Esch CE, Collins RL, Currall BB, O'Keefe K, Burt ND, Yadav R, Wang L, Mohajeri K, Aneichyk T, Ragavendran A, Stortchevoi A, Morini E, Ma W, Lucente D, Hastie A, Kelleher RJ, Perlis RH, Talkowski ME, Gusella JF
published in: American journal of human genetics
information resource reference: Tissue- and cell-type-specific molecular and functional signatures of 16p11.2 reciprocal genomic disorder across mouse brain and human neuronal models. Am J Hum Genet. 2024 Mar 07; 111(3):619.
journal title abbreviation: Am J Hum Genet
publication date: 2024-03-07T00:00:00
year: 2024
type: Academic Article
type: Article
type: Document
type: Information Resource

Modification of Huntington's disease by short tandem repeats.
PubMed Identifier: 38449714
author list: Hong EP, Ramos EM, Aziz NA, Massey TH, McAllister B, Lobanov S, Jones L, Holmans P, Kwak S, Orth M, Ciosi M, Lomeikaite V, Monckton DG, Long JD, Lucente D, Wheeler VC, Gillis T, MacDonald ME, Sequeiros J, Gusella JF, Lee JM
published in: Brain communications
information resource reference: Modification of Huntington's disease by short tandem repeats. Brain Commun. 2024; 6(2):fcae016.
journal title abbreviation: Brain Commun
publication date: 2024-01-23T00:00:00
year: 2024
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 52531
type: Authorship
author rank in publication: 4
linked author: Gusella, James
linked information resource: Hypokalemic periodic paralysis mutations: confirmation of mutation and analysis of founder effect.

Authorship 1640847
type: Authorship
author rank in publication: 19
linked author: Gusella, James
linked information resource: Posttranscriptional regulation of FAN1 by miR-124-3p at rs3512 underlies onset-delaying genetic modification in Huntington's disease.

Authorship 1643252
type: Authorship
author rank in publication: 19
linked author: Gusella, James
linked information resource: Splice modulators target PMS1 to reduce somatic expansion of the Huntington's disease-associated CAG repeat.

Splice modulators target PMS1 to reduce somatic expansion of the Huntington's disease-associated CAG repeat.
PubMed Identifier: 38609352
author list: McLean ZL, Gao D, Correia K, Roy JCL, Shibata S, Farnum IN, Valdepenas-Mellor Z, Kovalenko M, Rapuru M, Morini E, Ruliera J, Gillis T, Lucente D, Kleinstiver BP, Lee JM, MacDonald ME, Wheeler VC, Mouro Pinto R, Gusella JF
published in: Nature communications
information resource reference: Splice modulators target PMS1 to reduce somatic expansion of the Huntington's disease-associated CAG repeat. Nat Commun. 2024 Apr 12; 15(1):3182.
journal title abbreviation: Nat Commun
publication date: 2024-04-12T00:00:00
year: 2024
type: Academic Article
type: Article
type: Document
type: Information Resource

Posttranscriptional regulation of FAN1 by miR-124-3p at rs3512 underlies onset-delaying genetic modification in Huntington's disease.
PubMed Identifier: 38607933
author list: Kim KH, Hong EP, Lee Y, McLean ZL, Elezi E, Lee R, Kwak S, McAllister B, Massey TH, Lobanov S, Holmans P, Orth M, Ciosi M, Monckton DG, Long JD, Lucente D, Wheeler VC, MacDonald ME, Gusella JF, Lee JM
published in: Proceedings of the National Academy of Sciences of the United States of America
information resource reference: Posttranscriptional regulation of FAN1 by miR-124-3p at rs3512 underlies onset-delaying genetic modification in Huntington's disease. Proc Natl Acad Sci U S A. 2024 Apr 16; 121(16):e2322924121.
journal title abbreviation: Proc Natl Acad Sci U S A
publication date: 2024-04-12T00:00:00
year: 2024
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 162493
type: Authorship
author rank in publication: 5
linked author: Gusella, James
linked information resource: Prenatal diagnosis of familial dysautonomia by analysis of linked CA-repeat polymorphisms on chromosome 9q31-q33.

Authorship 172247
type: Authorship
author rank in publication: 9
linked author: Gusella, James
linked information resource: Evidence for subarachnoid spread in the development of multiple meningiomas.

Authorship 267884
type: Authorship
author rank in publication: 1
linked author: Gusella, James
linked information resource: The genetic defect causing Huntington's disease: repeated in other contexts?

Authorship 1654661
type: Authorship
author rank in publication: 13
linked author: Gusella, James
linked information resource: Single nuclei RNA-seq reveals a medium spiny neuron glutamate excitotoxicity signature prior to the onset of neuronal death in an ovine Huntington's disease model.

Single nuclei RNA-seq reveals a medium spiny neuron glutamate excitotoxicity signature prior to the onset of neuronal death in an ovine Huntington's disease model.
PubMed Identifier: 38776957
author list: Jiang A, You L, Handley RR, Hawkins V, Reid SJ, Jacobsen JC, Patassini S, Rudiger SR, Mclaughlan CJ, Kelly JM, Verma PJ, Bawden CS, Gusella JF, MacDonald ME, Waldvogel HJ, Faull RLM, Lehnert K, Snell RG
published in: Human molecular genetics
information resource reference: Single nuclei RNA-seq reveals a medium spiny neuron glutamate excitotoxicity signature prior to the onset of neuronal death in an ovine Huntington's disease model. Hum Mol Genet. 2024 08 18; 33(17):1524-1539.
journal title abbreviation: Hum Mol Genet
publication date: 2024-08-18T00:00:00
year: 2024
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 317492
type: Authorship
author rank in publication: 174
linked author: Gusella, James
linked information resource: Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus.

Authorship 334510
type: Authorship
author rank in publication: 11
linked author: Gusella, James
linked information resource: Genomic profiling distinguishes familial multiple and sporadic multiple meningiomas.

Authorship 1659939
type: Authorship
author rank in publication: 18
linked author: Gusella, James
linked information resource: Identification of genetic modifiers of Huntington's disease somatic CAG repeat instability by in vivo CRISPR-Cas9 genome editing.

Authorship 33661
type: Authorship
author rank in publication: 7
linked author: Gusella, James
linked information resource: Molecular basis of ornithine aminotransferase deficiency in B-6-responsive and -nonresponsive forms of gyrate atrophy.

Authorship 338505
type: Authorship
author rank in publication: 7
linked author: Gusella, James
linked information resource: Linkage analysis in juvenile neuronal ceroid lipofuscinosis.

Authorship 341296
type: Authorship
author rank in publication: 7
linked author: Gusella, James
linked information resource: Molecular genetics of neurofibromatosis 2 and related tumors (acoustic neuroma and meningioma).

Authorship 34162
type: Authorship
author rank in publication: 7
linked author: Gusella, James
linked information resource: Monozygotic twins discordant for neurofibromatosis 1.

Identification of genetic modifiers of Huntington's disease somatic CAG repeat instability by in vivo CRISPR-Cas9 genome editing.
PubMed Identifier: 38895438
author list: Mouro Pinto R, Murtha R, Azevedo A, Douglas C, Kovalenko M, Ulloa J, Crescenti S, Burch Z, Oliver E, Vitalo A, Mota-Silva E, Riggs MJ, Correia K, Elezi E, Demelo B, Carroll JB, Gillis T, Gusella JF, MacDonald ME, Wheeler VC
published in: bioRxiv : the preprint server for biology
information resource reference: Identification of genetic modifiers of Huntington's disease somatic CAG repeat instability by in vivo CRISPR-Cas9 genome editing. bioRxiv. 2024 Jun 09.
journal title abbreviation: bioRxiv
publication date: 2024-06-09T00:00:00
year: 2024
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 1663671
type: Authorship
author rank in publication: 23
linked author: Gusella, James
linked information resource: Genetic modifiers of somatic expansion and clinical phenotypes in Huntington's disease reveal shared and tissue-specific effects.

Genetic modifiers of somatic expansion and clinical phenotypes in Huntington's disease reveal shared and tissue-specific effects.
PubMed Identifier: 38948755
author list: Lee JM, McLean ZL, Correia K, Shin JW, Lee S, Jang JH, Lee Y, Kim KH, Choi DE, Long JD, Lucente D, Seong IS, Pinto RM, Giordano JV, Mysore JS, Siciliano J, Elezi E, Ruliera J, Gillis T, Wheeler VC, MacDonald ME, Gusella JF, Gatseva A, Ciosi M, Lomeikaite V, Loay H, Monckton DG, Wills C, Massey TH, Jones L, Holmans P, Kwak S, Sampaio C, Orth M, Bernhard Landwehrmeyer G, Paulsen JS, Ray Dorsey E, Myers RH
published in: bioRxiv : the preprint server for biology
information resource reference: Genetic modifiers of somatic expansion and clinical phenotypes in Huntington's disease reveal shared and tissue-specific effects. bioRxiv. 2024 Jun 18.
journal title abbreviation: bioRxiv
publication date: 2024-06-18T00:00:00
year: 2024
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 39991
type: Authorship
author rank in publication: 6
linked author: Gusella, James
linked information resource: Unbiased gene expression analysis implicates the huntingtin polyglutamine tract in extra-mitochondrial energy metabolism.

Professor of Neurology
is primary position: true
position in department: Neurology
position in division: https://connects.catalyst.harvard.edu/Profiles/profile/1229413
sort order: 1
type: Position
HR job title: Professor of Neurology
position in organization: Massachusetts General Hospital

Professor of Genetics
is primary position: true
position in department: Genetics
position in division: https://connects.catalyst.harvard.edu/Profiles/profile/1229413
sort order: 1
type: Position
HR job title: Professor of Genetics
position in organization: Massachusetts General Hospital

Bullard Professor of Neurogenetics in the Department of Genetics
is primary position: true
position in department: Genetics
position in division: https://connects.catalyst.harvard.edu/Profiles/profile/1229413
sort order: 1
type: Position
HR job title: Bullard Professor of Neurogenetics in the Department of Genetics
position in organization: Massachusetts General Hospital

Research Associate in Genetics
is primary position: true
position in department: Genetics
position in division: https://connects.catalyst.harvard.edu/Profiles/profile/1229413
sort order: 1
type: Position
HR job title: Research Associate in Genetics
position in organization: Massachusetts General Hospital

Authorship 449613
type: Authorship
author rank in publication: 2
linked author: Gusella, James
linked information resource: Chromosome-mediated transfer of the malignant phenotype by human acute myelogenous leukemic cells.

Authorship 277812
type: Authorship
author rank in publication: 9
linked author: Gusella, James
linked information resource: A linkage map of three anonymous human DNA fragments and SOD-1 on chromosome 21.

Authorship 319316
type: Authorship
author rank in publication: 34
linked author: Gusella, James
linked information resource: Assessment of 2q23.1 microdeletion syndrome implicates MBD5 as a single causal locus of intellectual disability, epilepsy, and autism spectrum disorder.

Authorship 329680
type: Authorship
author rank in publication: 17
linked author: Gusella, James
linked information resource: Deletions of NRXN1 (neurexin-1) predispose to a wide spectrum of developmental disorders.

Authorship 491131
type: Authorship
author rank in publication: 7
linked author: Gusella, James
linked information resource: Analysis of the beta-amyloid protein precursor of Alzheimer's disease: mRNAs and protein products.

Assessing Population Level Genetic Instability via Moving Average.
PubMed Identifier: 22866169
author list: McDaniel S, Minnier J, Betensky RA, Mohapatra G, Shen Y, Gusella JF, Louis DN, Cai T
published in: Statistics in biosciences
information resource reference: Assessing Population Level Genetic Instability via Moving Average. Stat Biosci. 2010 Dec; 2(2):120-136.
journal title abbreviation: Stat Biosci
publication date: 2010-11-24T00:00:00
year: 2010
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 35043
type: Authorship
author rank in publication: 5
linked author: Gusella, James
linked information resource: Accumulation of wild type p53 protein in human astrocytomas.

Authorship 661023
type: Authorship
author rank in publication: 18
linked author: Gusella, James
linked information resource: Haploinsufficiency of KDM6A is associated with severe psychomotor retardation, global growth restriction, seizures and cleft palate.

Authorship 647550
type: Authorship
author rank in publication: 16
linked author: Gusella, James
linked information resource: Dominant effects of the Huntington's disease HTT CAG repeat length are captured in gene-expression data sets by a continuous analysis mathematical modeling strategy.

Authorship 657780
type: Authorship
author rank in publication: 7
linked author: Gusella, James
linked information resource: Mosaic copy number variation in schizophrenia.

Mosaic copy number variation in schizophrenia.
PubMed Identifier: 23321615
author list: Ruderfer DM, Chambert K, Moran J, Talkowski M, Chen ES, Gigek C, Gusella JF, Blackwood DH, Corvin A, Gurling HM, Hultman CM, Kirov G, Magnusson P, O'Donovan MC, Owen MJ, Pato C, St Clair D, Sullivan PF, Purcell SM, Sklar P, Ernst C
published in: European journal of human genetics : EJHG
information resource reference: Mosaic copy number variation in schizophrenia. Eur J Hum Genet. 2013 Sep; 21(9):1007-11.
journal title abbreviation: Eur J Hum Genet
publication date: 2013-01-16T00:00:00
year: 2013
type: Academic Article
type: Article
type: Document
type: Information Resource

Haploinsufficiency of KDM6A is associated with severe psychomotor retardation, global growth restriction, seizures and cleft palate.
PubMed Identifier: 23354975
author list: Lindgren AM, Hoyos T, Talkowski ME, Hanscom C, Blumenthal I, Chiang C, Ernst C, Pereira S, Ordulu Z, Clericuzio C, Drautz JM, Rosenfeld JA, Shaffer LG, Velsher L, Pynn T, Vermeesch J, Harris DJ, Gusella JF, Liao EC, Morton CC
published in: Human genetics
information resource reference: Haploinsufficiency of KDM6A is associated with severe psychomotor retardation, global growth restriction, seizures and cleft palate. Hum Genet. 2013 May; 132(5):537-52.
journal title abbreviation: Hum Genet
publication date: 2013-01-25T00:00:00
year: 2013
type: Academic Article
type: Article
type: Document
type: Information Resource

Dominant effects of the Huntington's disease HTT CAG repeat length are captured in gene-expression data sets by a continuous analysis mathematical modeling strategy.
PubMed Identifier: 23595883
author list: Lee JM, Galkina EI, Levantovsky RM, Fossale E, Anne Anderson M, Gillis T, Srinidhi Mysore J, Coser KR, Shioda T, Zhang B, Furia MD, Derry J, Kohane IS, Seong IS, Wheeler VC, Gusella JF, MacDonald ME
published in: Human molecular genetics
information resource reference: Dominant effects of the Huntington's disease HTT CAG repeat length are captured in gene-expression data sets by a continuous analysis mathematical modeling strategy. Hum Mol Genet. 2013 Aug 15; 22(16):3227-38.
journal title abbreviation: Hum Mol Genet
publication date: 2013-04-16T00:00:00
year: 2013
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 95026
type: Authorship
author rank in publication: 4
linked author: Gusella, James
linked information resource: A DNA polymorphism for Huntington's disease marks the future.

Professor of Neurology
is primary position: true
position in department: Neurology
position in division: https://connects.catalyst.harvard.edu/Profiles/profile/1229413
sort order: 1
type: Position
HR job title: Professor of Neurology
position in organization: Massachusetts General Hospital

Authorship 184352
type: Authorship
author rank in publication: 6
linked author: Gusella, James
linked information resource: Cloning of a highly conserved human protein serine-threonine phosphatase gene from the glioma candidate region on chromosome 19q13.3.

Authorship 1706163
type: Authorship
author rank in publication: 19
linked author: Gusella, James
linked information resource: Resolution of ring chromosomes, Robertsonian translocations, and complex structural variants from long-read sequencing and telomere-to-telomere assembly.

Resolution of ring chromosomes, Robertsonian translocations, and complex structural variants from long-read sequencing and telomere-to-telomere assembly.
PubMed Identifier: 39520989
author list: Mostovoy Y, Boone PM, Huang Y, Garimella KV, Tan KT, Russell BE, Salani M, de Esch CEF, Lemanski J, Curall B, Hauenstein J, Lucente D, Bowers T, DeSmet T, Gabriel S, Morton CC, Meyerson M, Hastie AR, Gusella J, Quintero-Rivera F, Brand H, Talkowski ME
published in: American journal of human genetics
information resource reference: Resolution of ring chromosomes, Robertsonian translocations, and complex structural variants from long-read sequencing and telomere-to-telomere assembly. Am J Hum Genet. 2024 Dec 05; 111(12):2693-2706.
journal title abbreviation: Am J Hum Genet
publication date: 2024-11-08T00:00:00
year: 2024
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 549410
type: Authorship
author rank in publication: 4
linked author: Gusella, James
linked information resource: Computer-mediated social support: single young mothers as a model system.

Authorship 87171
type: Authorship
author rank in publication: 5
linked author: Gusella, James
linked information resource: An expression-independent catalog of genes from human chromosome 22.

Authorship 94644
type: Authorship
author rank in publication: 9
linked author: Gusella, James
linked information resource: Comparative mapping of DNA markers from the familial Alzheimer disease and Down syndrome regions of human chromosome 21 to mouse chromosomes 16 and 17.

Authorship 563477
type: Authorship
author rank in publication: 2
linked author: Gusella, James
linked information resource: Progress toward the isolation and characterization of the genes causing neurofibromatosis.

Authorship 574146
type: Authorship
author rank in publication: 3
linked author: Gusella, James
linked information resource: RFLPS at the D21S19 locus of human chromosome 21.

Authorship 1724358
type: Authorship
author rank in publication: 20
linked author: Gusella, James
linked information resource: In vivo CRISPR-Cas9 genome editing in mice identifies genetic modifiers of somatic CAG repeat instability in Huntington's disease.

In vivo CRISPR-Cas9 genome editing in mice identifies genetic modifiers of somatic CAG repeat instability in Huntington's disease.
PubMed Identifier: 39843658
author list: Mouro Pinto R, Murtha R, Azevedo A, Douglas C, Kovalenko M, Ulloa J, Crescenti S, Burch Z, Oliver E, Kesavan M, Shibata S, Vitalo A, Mota-Silva E, Riggs MJ, Correia K, Elezi E, Demelo B, Carroll JB, Gillis T, Gusella JF, MacDonald ME, Wheeler VC
published in: Nature genetics
information resource reference: In vivo CRISPR-Cas9 genome editing in mice identifies genetic modifiers of somatic CAG repeat instability in Huntington's disease. Nat Genet. 2025 Feb; 57(2):314-322.
journal title abbreviation: Nat Genet
publication date: 2025-01-22T00:00:00
year: 2025
type: Academic Article
type: Article
type: Document
type: Information Resource

Instructor in Neurology
is primary position: true
position in department: Neurology
position in division: https://connects.catalyst.harvard.edu/Profiles/profile/1229413
sort order: 1
type: Position
HR job title: Instructor in Neurology
position in organization: Massachusetts General Hospital

Professor of Genetics
is primary position: true
position in department: Genetics
position in division: https://connects.catalyst.harvard.edu/Profiles/profile/1229413
sort order: 1
type: Position
HR job title: Professor of Genetics
position in organization: Massachusetts General Hospital

Authorship 276265
type: Authorship
author rank in publication: 4
linked author: Gusella, James
linked information resource: An anti-Ras function of neurofibromatosis type 2 gene product (NF2/Merlin).

Authorship 279712
type: Authorship
author rank in publication: 15
linked author: Gusella, James
linked information resource: Next-generation sequencing strategies enable routine detection of balanced chromosome rearrangements for clinical diagnostics and genetic research.

Authorship 322321
type: Authorship
author rank in publication: 2
linked author: Gusella, James
linked information resource: MspI RFLP for human MAOA gene.

Authorship 325324
type: Authorship
author rank in publication: 6
linked author: Gusella, James
linked information resource: Identification of human chromosome 9 specific genes using exon amplification.

Authorship 192198
type: Authorship
author rank in publication: 5
linked author: Gusella, James
linked information resource: The putative glioma tumor suppressor gene on chromosome 19q maps between APOC2 and HRC.

Authorship 693181
type: Authorship
author rank in publication: 32
linked author: Gusella, James
linked information resource: Candidate glutamatergic and dopaminergic pathway gene variants do not influence Huntington's disease motor onset.

Candidate glutamatergic and dopaminergic pathway gene variants do not influence Huntington's disease motor onset.
PubMed Identifier: 23644918
author list: Ramos EM, Latourelle JC, Gillis T, Mysore JS, Squitieri F, Di Pardo A, Di Donato S, Gellera C, Hayden MR, Morrison PJ, Nance M, Ross CA, Margolis RL, Gomez-Tortosa E, Ayuso C, Suchowersky O, Trent RJ, McCusker E, Novelletto A, Frontali M, Jones R, Ashizawa T, Frank S, Saint-Hilaire MH, Hersch SM, Rosas HD, Lucente D, Harrison MB, Zanko A, Abramson RK, Marder K, Gusella JF, Lee JM, Alonso I, Sequeiros J, Myers RH, Macdonald ME
published in: Neurogenetics
information resource reference: Candidate glutamatergic and dopaminergic pathway gene variants do not influence Huntington's disease motor onset. Neurogenetics. 2013 Nov; 14(3-4):173-9.
journal title abbreviation: Neurogenetics
publication date: 2013-05-04T00:00:00
year: 2013
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 224709
type: Authorship
author rank in publication: 3
linked author: Gusella, James
linked information resource: Neuropathology and molecular genetics of neurofibromatosis 2 and related tumors.

Authorship 229299
type: Authorship
author rank in publication: 4
linked author: Gusella, James
linked information resource: Commitment of murine erythroleukemia (MEL) cells to terminal differentiation is associated with coordinated expression of globin and ribosomal genes.

Authorship 1744629
type: Authorship
author rank in publication: 8
linked author: Gusella, James
linked information resource: Presenilin 1 hemizygosity has no overt deleterious phenotypic outcomes in sheep: Potential implications for therapeutic targets in Alzheimer's disease.

Presenilin 1 hemizygosity has no overt deleterious phenotypic outcomes in sheep: Potential implications for therapeutic targets in Alzheimer's disease.
PubMed Identifier: 40315540
author list: Mckean NE, Liu J, Rudiger SR, Kelly JM, McLaughlan C, Verma PJ, Hardy J, Gusella JF, Zetterberg H, Reid SJ, Handley RH, Lehnert K, Sutherland GT, Heslegrave A, Veleva E, Laban R, Pearson JF, Bawden SC, Snell RG
published in: Neurobiology of aging
information resource reference: Presenilin 1 hemizygosity has no overt deleterious phenotypic outcomes in sheep: Potential implications for therapeutic targets in Alzheimer's disease. Neurobiol Aging. 2025 08; 152:25-33.
journal title abbreviation: Neurobiol Aging
publication date: 2025-04-25T00:00:00
year: 2025
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 379733
type: Authorship
author rank in publication: 5
linked author: Gusella, James
linked information resource: The NF2 tumor suppressor Merlin and the ERM proteins interact with N-WASP and regulate its actin polymerization function.

Authorship 181902
type: Authorship
author rank in publication: 2
linked author: Gusella, James
linked information resource: Dinucleotide repeat polymorphism at the D9S118 locus (9q31-34).

Authorship 183439
type: Authorship
author rank in publication: 14
linked author: Gusella, James
linked information resource: An evolutionary recent neuroepithelial cell adhesion function of huntingtin implicates ADAM10-Ncadherin.

Authorship 698582
type: Authorship
author rank in publication: 17
linked author: Gusella, James
linked information resource: Reciprocal deletion and duplication at 2q23.1 indicates a role for MBD5 in autism spectrum disorder.

Reciprocal deletion and duplication at 2q23.1 indicates a role for MBD5 in autism spectrum disorder.
PubMed Identifier: 23632792
author list: Mullegama SV, Rosenfeld JA, Orellana C, van Bon BW, Halbach S, Repnikova EA, Brick L, Li C, Dupuis L, Rosello M, Aradhya S, Stavropoulos DJ, Manickam K, Mitchell E, Hodge JC, Talkowski ME, Gusella JF, Keller K, Zonana J, Schwartz S, Pyatt RE, Waggoner DJ, Shaffer LG, Lin AE, de Vries BB, Mendoza-Londono R, Elsea SH
published in: European journal of human genetics : EJHG
information resource reference: Reciprocal deletion and duplication at 2q23.1 indicates a role for MBD5 in autism spectrum disorder. Eur J Hum Genet. 2014 Jan; 22(1):57-63.
journal title abbreviation: Eur J Hum Genet
publication date: 2013-05-01T00:00:00
year: 2013
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 197731
type: Authorship
author rank in publication: 45
linked author: Gusella, James
linked information resource: Huntington CAG repeat size does not modify onset age in familial Parkinson's disease: the GenePD study.

Authorship 210979
type: Authorship
author rank in publication: 5
linked author: Gusella, James
linked information resource: Dinucleotide repeat polymorphism for the hexabrachion gene (HXB) on chromosome 9q32-34.

Authorship 205086
type: Authorship
author rank in publication: 4
linked author: Gusella, James
linked information resource: Reversal of a full-length mutant huntingtin neuronal cell phenotype by chemical inhibitors of polyglutamine-mediated aggregation.

Authorship 233484
type: Authorship
author rank in publication: 10
linked author: Gusella, James
linked information resource: Huntington disease-linked locus D4S111 exposed as the alpha-L-iduronidase gene.

Authorship 252934
type: Authorship
author rank in publication: 10
linked author: Gusella, James
linked information resource: The relationship between CAG repeat length and age of onset differs for Huntington's disease patients with juvenile onset or adult onset.

Authorship 261706
type: Authorship
author rank in publication: 5
linked author: Gusella, James
linked information resource: Identification and characterization of two novel tetratricopeptide repeat-containing genes.

Authorship 245884
type: Authorship
author rank in publication: 1
linked author: Gusella, James
linked information resource: Molecular genetics of Huntington's disease.

Authorship 276276
type: Authorship
author rank in publication: 6
linked author: Gusella, James
linked information resource: Splicing defect at the ornithine aminotransferase (OAT) locus in gyrate atrophy.

Authorship 280580
type: Authorship
author rank in publication: 6
linked author: Gusella, James
linked information resource: Torsion dystonia genes in two populations confined to a small region on chromosome 9q32-34.

Authorship 40576
type: Authorship
author rank in publication: 5
linked author: Gusella, James
linked information resource: The normal Huntington disease (HD) allele, or a closely linked gene, influences age at onset of HD.

Authorship 207449
type: Authorship
author rank in publication: 15
linked author: Gusella, James
linked information resource: BDNF, relative preference, and reward circuitry responses to emotional communication.

Human iPSC models of neuronal ceroid lipofuscinosis capture distinct effects of TPP1 and CLN3 mutations on the endocytic pathway.
PubMed Identifier: 24271013
author list: Lojewski X, Staropoli JF, Biswas-Legrand S, Simas AM, Haliw L, Selig MK, Coppel SH, Goss KA, Petcherski A, Chandrachud U, Sheridan SD, Lucente D, Sims KB, Gusella JF, Sondhi D, Crystal RG, Reinhardt P, Sterneckert J, Schöler H, Haggarty SJ, Storch A, Hermann A, Cotman SL
published in: Human molecular genetics
information resource reference: Human iPSC models of neuronal ceroid lipofuscinosis capture distinct effects of TPP1 and CLN3 mutations on the endocytic pathway. Hum Mol Genet. 2014 Apr 15; 23(8):2005-22.
journal title abbreviation: Hum Mol Genet
publication date: 2013-11-23T00:00:00
year: 2013
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 295476
type: Authorship
author rank in publication: 31
linked author: Gusella, James
linked information resource: Population stratification may bias analysis of PGC-1a as a modifier of age at Huntington disease motor onset.

Authorship 296312
type: Authorship
author rank in publication: 44
linked author: Gusella, James
linked information resource: Genome-wide significance for a modifier of age at neurological onset in Huntington's disease at 6q23-24: the HD MAPS study.

Authorship 304560
type: Authorship
author rank in publication: 10
linked author: Gusella, James
linked information resource: The telomeric 60 kb of chromosome arm 4p is homologous to telomeric regions on 13p, 15p, 21p, and 22p.

MicroRNAs located in the Hox gene clusters are implicated in huntington's disease pathogenesis.
PubMed Identifier: 24586208
author list: Hoss AG, Kartha VK, Dong X, Latourelle JC, Dumitriu A, Hadzi TC, Macdonald ME, Gusella JF, Akbarian S, Chen JF, Weng Z, Myers RH
published in: PLoS genetics
information resource reference: MicroRNAs located in the Hox gene clusters are implicated in huntington's disease pathogenesis. PLoS Genet. 2014 Feb; 10(2):e1004188.
journal title abbreviation: PLoS Genet
publication date: 2014-02-27T00:00:00
year: 2014
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 188159
type: Authorship
author rank in publication: 3
linked author: Gusella, James
linked information resource: Expression of PTPH1, a rat protein tyrosine phosphatase, is restricted to the derivatives of a specific diencephalic segment.

Authorship 20822
type: Authorship
author rank in publication: 12
linked author: Gusella, James
linked information resource: Fine-mapping of restless legs locus 4 (RLS4) identifies a haplotype over the SPATS2L and KCTD18 genes.

Authorship 276444
type: Authorship
author rank in publication: 9
linked author: Gusella, James
linked information resource: No association between alpha 1-antichymotrypsin and familial Alzheimer's disease.

Authorship 41189
type: Authorship
author rank in publication: 6
linked author: Gusella, James
linked information resource: Distribution of trinucleotide repeat sequences across a 2 Mbp region containing the Huntington's disease gene.

Authorship 65267
type: Authorship
author rank in publication: 2
linked author: Gusella, James
linked information resource: Huntington's disease: translating a CAG repeat into a pathogenic mechanism.

Authorship 446848
type: Authorship
author rank in publication: 3
linked author: Gusella, James
linked information resource: Genetic analysis of the dominant white-spotting (W) region on mouse chromosome 5: identification of cloned DNA markers near W.

Authorship 285706
type: Authorship
author rank in publication: 2
linked author: Gusella, James
linked information resource: Report of the Committee on the Genetic Constitution of Chromosomes 3 and 4.

Authorship 29080
type: Authorship
author rank in publication: 2
linked author: Gusella, James
linked information resource: Dinucleotide repeat polymorphism at the D9S116 locus (9q31-34).

Authorship 299015
type: Authorship
author rank in publication: 10
linked author: Gusella, James
linked information resource: Analysis of the trinucleotide repeat expansion in Italian families affected with Huntington disease.

Authorship 300809
type: Authorship
author rank in publication: 7
linked author: Gusella, James
linked information resource: Mouse Huntington's disease gene homolog (Hdh).

Autism spectrum disorder genetics: diverse genes with diverse clinical outcomes.
PubMed Identifier: 24614762
author list: Talkowski ME, Minikel EV, Gusella JF
published in: Harvard review of psychiatry
information resource reference: Autism spectrum disorder genetics: diverse genes with diverse clinical outcomes. Harv Rev Psychiatry. 2014 Mar-Apr; 22(2):65-75.
journal title abbreviation: Harv Rev Psychiatry
publication date: 2014-03-01T00:00:00
year: 2014
type: Academic Article
type: Article
type: Document
type: Information Resource

Describing sequencing results of structural chromosome rearrangements with a suggested next-generation cytogenetic nomenclature.
PubMed Identifier: 24746958
author list: Ordulu Z, Wong KE, Currall BB, Ivanov AR, Pereira S, Althari S, Gusella JF, Talkowski ME, Morton CC
published in: American journal of human genetics
information resource reference: Describing sequencing results of structural chromosome rearrangements with a suggested next-generation cytogenetic nomenclature. Am J Hum Genet. 2014 May 01; 94(5):695-709.
journal title abbreviation: Am J Hum Genet
publication date: 2014-04-17T00:00:00
year: 2014
type: Academic Article
type: Article
type: Document
type: Information Resource

Disruption of MBD5 contributes to a spectrum of psychopathology and neurodevelopmental abnormalities.
PubMed Identifier: 23587880
author list: Hodge JC, Mitchell E, Pillalamarri V, Toler TL, Bartel F, Kearney HM, Zou YS, Tan WH, Hanscom C, Kirmani S, Hanson RR, Skinner SA, Rogers RC, Everman DB, Boyd E, Tapp C, Mullegama SV, Keelean-Fuller D, Powell CM, Elsea SH, Morton CC, Gusella JF, DuPont B, Chaubey A, Lin AE, Talkowski ME
published in: Molecular psychiatry
information resource reference: Disruption of MBD5 contributes to a spectrum of psychopathology and neurodevelopmental abnormalities. Mol Psychiatry. 2014 Mar; 19(3):368-79.
journal title abbreviation: Mol Psychiatry
publication date: 2013-04-16T00:00:00
year: 2013
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 474231
type: Authorship
author rank in publication: 10
linked author: Gusella, James
linked information resource: The genetic defect in familial Alzheimer's disease is not tightly linked to the amyloid beta-protein gene.

Authorship 476761
type: Authorship
author rank in publication: 13
linked author: Gusella, James
linked information resource: Refined localization of the cerebral cavernous malformation gene (CCM1) to a 4-cM interval of chromosome 7q contained in a well-defined YAC contig.

Authorship 721513
type: Authorship
author rank in publication: 3
linked author: Gusella, James
linked information resource: Autism spectrum disorder genetics: diverse genes with diverse clinical outcomes.

Authorship 723873
type: Authorship
author rank in publication: 14
linked author: Gusella, James
linked information resource: Human iPSC models of neuronal ceroid lipofuscinosis capture distinct effects of TPP1 and CLN3 mutations on the endocytic pathway.

Authorship 720504
type: Authorship
author rank in publication: 8
linked author: Gusella, James
linked information resource: MicroRNAs located in the Hox gene clusters are implicated in huntington's disease pathogenesis.

Authorship 717104
type: Authorship
author rank in publication: 22
linked author: Gusella, James
linked information resource: Disruption of MBD5 contributes to a spectrum of psychopathology and neurodevelopmental abnormalities.

Authorship 21045
type: Authorship
author rank in publication: 6
linked author: Gusella, James
linked information resource: Rescue of a Drosophila NF1 mutant phenotype by protein kinase A.

Authorship 245930
type: Authorship
author rank in publication: 13
linked author: Gusella, James
linked information resource: Candidate loci for Zimmermann-Laband syndrome at 3p14.3.

Authorship 267983
type: Authorship
author rank in publication: 5
linked author: Gusella, James
linked information resource: The murine NF2 homologue encodes a highly conserved merlin protein with alternative forms.

Authorship 270947
type: Authorship
author rank in publication: 9
linked author: Gusella, James
linked information resource: Therapeutic potential and mechanism of kinetin as a treatment for the human splicing disease familial dysautonomia.

Authorship 288135
type: Authorship
author rank in publication: 7
linked author: Gusella, James
linked information resource: Different gene loci for hyperkalemic and hypokalemic periodic paralysis.

Authorship 29052
type: Authorship
author rank in publication: 7
linked author: Gusella, James
linked information resource: Molecular genetics of familial Alzheimer's disease.

Authorship 1681
type: Authorship
author rank in publication: 11
linked author: Gusella, James
linked information resource: Intra-family phenotypic heterogeneity of 16p11.2 deletion carriers in a three-generation Chinese family.

Authorship 208624
type: Authorship
author rank in publication: 7
linked author: Gusella, James
linked information resource: Differential effects of the Huntington's disease CAG mutation in striatum and cerebellum are quantitative not qualitative.

Authorship 725896
type: Authorship
author rank in publication: 7
linked author: Gusella, James
linked information resource: Describing sequencing results of structural chromosome rearrangements with a suggested next-generation cytogenetic nomenclature.

Authorship 727003
type: Authorship
author rank in publication: 8
linked author: Gusella, James
linked information resource: HD CAGnome: a search tool for huntingtin CAG repeat length-correlated genes.

HD CAGnome: a search tool for huntingtin CAG repeat length-correlated genes.
PubMed Identifier: 24751919
author list: Galkina EI, Shin A, Coser KR, Shioda T, Kohane IS, Seong IS, Wheeler VC, Gusella JF, Macdonald ME, Lee JM
published in: PloS one
information resource reference: HD CAGnome: a search tool for huntingtin CAG repeat length-correlated genes. PLoS One. 2014; 9(4):e95556.
journal title abbreviation: PLoS One
publication date: 2014-04-21T00:00:00
year: 2014
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 308569
type: Authorship
author rank in publication: 48
linked author: Gusella, James
linked information resource: The Gly2019Ser mutation in LRRK2 is not fully penetrant in familial Parkinson's disease: the GenePD study.

Authorship 178046
type: Authorship
author rank in publication: 5
linked author: Gusella, James
linked information resource: Cloning, characterization, and genomic structure of the mouse Ikbkap gene.

Authorship 196768
type: Authorship
author rank in publication: 14
linked author: Gusella, James
linked information resource: The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein.

Authorship 735207
type: Authorship
author rank in publication: 14
linked author: Gusella, James
linked information resource: Transcriptional consequences of 16p11.2 deletion and duplication in mouse cortex and multiplex autism families.

Transcriptional consequences of 16p11.2 deletion and duplication in mouse cortex and multiplex autism families.
PubMed Identifier: 24906019
author list: Blumenthal I, Ragavendran A, Erdin S, Klei L, Sugathan A, Guide JR, Manavalan P, Zhou JQ, Wheeler VC, Levin JZ, Ernst C, Roeder K, Devlin B, Gusella JF, Talkowski ME
published in: American journal of human genetics
information resource reference: Transcriptional consequences of 16p11.2 deletion and duplication in mouse cortex and multiplex autism families. Am J Hum Genet. 2014 Jun 05; 94(6):870-83.
journal title abbreviation: Am J Hum Genet
publication date: 2014-06-05T00:00:00
year: 2014
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 245313
type: Authorship
author rank in publication: 7
linked author: Gusella, James
linked information resource: The ornithine aminotransferase (OAT) locus: analysis of RFLPs in gyrate atrophy.

Authorship 267033
type: Authorship
author rank in publication: 9
linked author: Gusella, James
linked information resource: Rescue of a human mRNA splicing defect by the plant cytokinin kinetin.

Authorship 270184
type: Authorship
author rank in publication: 3
linked author: Gusella, James
linked information resource: Exclusion of autosomal dominant dystonia gene from large regions of chromosomes 11p, 13q, and 21q by multi-point linkage analysis.

Authorship 278298
type: Authorship
author rank in publication: 3
linked author: Gusella, James
linked information resource: A genetic map of chromosome 1: comparison of different data sets and linkage programs.

Authorship 1823567
type: Authorship
author rank in publication: 13
linked author: Gusella, James
linked information resource: Significant underascertainment in Huntington's disease.

Authorship 1823943
type: Authorship
author rank in publication: 2
linked author: Gusella, James
linked information resource: The risks and benefits of being a young female adolescent standardised patient.

Authorship 1826769
type: Authorship
author rank in publication: 38
linked author: Gusella, James
linked information resource: Aberrant recursive splicing in a human disease locus.

Authorship 1852276
type: Authorship
author rank in publication: 11
linked author: Gusella, James
linked information resource: TRACE: Open-Source Software for Quantifying Somatic Variation of Tandem Repeats by Capillary Electrophoresis.

Authorship 1849748
type: Authorship
author rank in publication: 20
linked author: Gusella, James
linked information resource: CRISPR-engineered deletion of POGZ alters transcription factor binding at promoters of genes involved in synaptic signaling.

Aberrant recursive splicing in a human disease locus.
PubMed Identifier: 40919386
author list: Boone PM, Harripaul R, Yadav R, Grzybowski M, Hanafy MK, Lee AC, Choi EY, Collins RL, Polesskaya O, Makhortova N, Larson MO, Kayir H, Wang Y, Avila RA, Frie JA, Eed A, Albeely AM, Venmuri S, Ayoub SM, Lemanski JM, Ben-Isvy D, Zhao X, Sanchis-Juan A, Handley M, Erdin S, de Esch C, Mohajeri K, Chen C, Tovar PG, Salani M, Oliveira MM, Tai DJC, Currall B, McGraw C, Slaughenhaupt S, Doan R, Gao D, Gusella JF, Sanchez-Roige S, Young J, Khokar J, Geurts AM, Palmer AA, Talkowski ME
published in: bioRxiv : the preprint server for biology
information resource reference: Aberrant recursive splicing in a human disease locus. bioRxiv. 2025 Aug 15.
journal title abbreviation: bioRxiv
publication date: 2025-08-15T00:00:00
year: 2025
type: Academic Article
type: Article
type: Document
type: Information Resource

The risks and benefits of being a young female adolescent standardised patient.
PubMed Identifier: 16441320
author list: Blake KD, Gusella J, Greaven S, Wakefield S
published in: Medical education
information resource reference: The risks and benefits of being a young female adolescent standardised patient. Med Educ. 2006 Jan; 40(1):26-35.
journal title abbreviation: Med Educ
publication date: 2006-01-01T00:00:00
year: 2006
type: Academic Article
type: Article
type: Document
type: Information Resource

CRISPR-engineered deletion of POGZ alters transcription factor binding at promoters of genes involved in synaptic signaling.
PubMed Identifier: 41279137
author list: Moyses-Oliveira M, Liu Y, Erdin S, Gao D, Bhavsar R, Mohajeri K, O'Keefe K, Boone PM, Xavier G, Liao C, Li A, Yadav R, Salani M, Lucente D, Currall B, de Esch CEF, Tai DJC, Ruderfer D, Brennand KJ, Gusella JF, Talkowski ME
published in: bioRxiv : the preprint server for biology
information resource reference: CRISPR-engineered deletion of POGZ alters transcription factor binding at promoters of genes involved in synaptic signaling. bioRxiv. 2025 Oct 27.
journal title abbreviation: bioRxiv
publication date: 2025-10-27T00:00:00
year: 2025
type: Academic Article
type: Article
type: Document
type: Information Resource

TRACE: Open-Source Software for Quantifying Somatic Variation of Tandem Repeats by Capillary Electrophoresis.
PubMed Identifier: 41648493
author list: Jiang A, Correia K, Gillis T, Oliver EL, Jones BP, McAllister B, Maza AM, MacDonald ME, Pinto RM, Wheeler VC, Gusella JF, McLean ZL
published in: bioRxiv : the preprint server for biology
information resource reference: TRACE: Open-Source Software for Quantifying Somatic Variation of Tandem Repeats by Capillary Electrophoresis. bioRxiv. 2026 Jan 23.
journal title abbreviation: bioRxiv
publication date: 2026-01-23T00:00:00
year: 2026
type: Academic Article
type: Article
type: Document
type: Information Resource

Significant underascertainment in Huntington's disease.
PubMed Identifier: 40454200
author list: Lee S, Weisburd B, Lee J, Correia K, Zeng S, Park SS, Shin JW, Choi DE, Kim KH, Jang JH, Gillis T, Rehm HL, Gusella JF, MacDonald ME, Lee JM
published in: Brain communications
information resource reference: Significant underascertainment in Huntington's disease. Brain Commun. 2025; 7(3):fcaf194.
journal title abbreviation: Brain Commun
publication date: 2025-05-20T00:00:00
year: 2025
type: Academic Article
type: Article
type: Document
type: Information Resource

General Pediatrics
type: Division
type: Organization

Professor of Neurology
is primary position: true
position in department: Neurology
position in division: https://connects.catalyst.harvard.edu/Profiles/profile/1229413
sort order: 1
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HR job title: Professor of Neurology
position in organization: Massachusetts General Hospital

Authorship 378996
type: Authorship
author rank in publication: 4
linked author: Gusella, James
linked information resource: Dinucleotide repeat polymorphism (D16S285) on human chromosome 16.

Authorship 334500
type: Authorship
author rank in publication: 7
linked author: Gusella, James
linked information resource: Mapping of ornithine aminotransferase gene sequences to mouse chromosomes 7, X, and 3.

Authorship 278916
type: Authorship
author rank in publication: 8
linked author: Gusella, James
linked information resource: An ovine transgenic Huntington's disease model.

Mary Ellen Avery Professor of Pediatrics
is primary position: true
position in department: Pediatrics
position in division: General Pediatrics
sort order: 1
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HR job title: Mary Ellen Avery Professor of Pediatrics
position in organization: Boston Children's Hospital

Instructor in Pediatrics
is primary position: true
position in department: Pediatrics
position in division: Genetics
sort order: 1
type: Position
HR job title: Instructor in Pediatrics
position in organization: Boston Children's Hospital

Authorship 31602
type: Authorship
author rank in publication: 4
linked author: Gusella, James
linked information resource: Mediator subunit MED28 (Magicin) is a repressor of smooth muscle cell differentiation.

Authorship 322873
type: Authorship
author rank in publication: 1
linked author: Gusella, James
linked information resource: Accuracy of testing for Huntington's disease.

Authorship 348338
type: Authorship
author rank in publication: 12
linked author: Gusella, James
linked information resource: Downregulated microRNA-200a in meningiomas promotes tumor growth by reducing E-cadherin and activating the Wnt/beta-catenin signaling pathway.

Authorship 456292
type: Authorship
author rank in publication: 5
linked author: Gusella, James
linked information resource: Assignment of persephin (PSPN), a human neurotrophic factor, to chromosome 19p13.3 by radiation hybrid mapping and somatic cell hybrid PCR.

Authorship 370661
type: Authorship
author rank in publication: 1
linked author: Gusella, James
linked information resource: Genetic fine-structure mapping in human chromosome 11 by use of repetitive DNA sequences.

Authorship 374521
type: Authorship
author rank in publication: 1
linked author: Gusella, James
linked information resource: Huntington's disease: seeing the pathogenic process through a genetic lens.

Authorship 396387
type: Authorship
author rank in publication: 1
linked author: Gusella, James
linked information resource: A polymorphic DNA marker genetically linked to Huntington's disease.

Authorship 480501
type: Authorship
author rank in publication: 5
linked author: Gusella, James
linked information resource: Protease inhibitor domain encoded by an amyloid protein precursor mRNA associated with Alzheimer's disease.

Authorship 494382
type: Authorship
author rank in publication: 6
linked author: Gusella, James
linked information resource: Chromosomal localization of the mouse homolog of the Huntington's disease linked G8 (D4S10) marker.

Authorship 751262
type: Authorship
author rank in publication: 13
linked author: Gusella, James
linked information resource: Further molecular characterisation of the OVT73 transgenic sheep model of Huntington's disease identifies cortical aggregates.

Further molecular characterisation of the OVT73 transgenic sheep model of Huntington's disease identifies cortical aggregates.
PubMed Identifier: 25062676
author list: Reid SJ, Patassini S, Handley RR, Rudiger SR, McLaughlan CJ, Osmand A, Jacobsen JC, Morton AJ, Weiss A, Waldvogel HJ, MacDonald ME, Gusella JF, Bawden CS, Faull RL, Snell RG
published in: Journal of Huntington's disease
information resource reference: Further molecular characterisation of the OVT73 transgenic sheep model of Huntington's disease identifies cortical aggregates. J Huntingtons Dis. 2013; 2(3):279-95.
journal title abbreviation: J Huntingtons Dis
publication date: 2013-01-01T00:00:00
year: 2013
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 517079
type: Authorship
author rank in publication: 1
linked author: Gusella, James
linked information resource: Molecular genetics: unmasking polyglutamine triggers in neurodegenerative disease.

Authorship 543346
type: Authorship
author rank in publication: 41
linked author: Gusella, James
linked information resource: CAG repeat expansion in Huntington disease determines age at onset in a fully dominant fashion.

Authorship 545893
type: Authorship
author rank in publication: 26
linked author: Gusella, James
linked information resource: Genome-wide scan for Parkinson's disease: the GenePD Study.

Authorship 547489
type: Authorship
author rank in publication: 7
linked author: Gusella, James
linked information resource: The beta amyloid protein precursor: mRNAs, membrane-associated forms, and soluble derivatives.

Authorship 548190
type: Authorship
author rank in publication: 9
linked author: Gusella, James
linked information resource: Inactivation of the mouse Huntington's disease gene homolog Hdh.

Authorship 553675
type: Authorship
author rank in publication: 2
linked author: Gusella, James
linked information resource: Use of cyclosporin A in establishing Epstein-Barr virus-transformed human lymphoblastoid cell lines.

Authorship 56205
type: Authorship
author rank in publication: 22
linked author: Gusella, James
linked information resource: Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminus.

Authorship 575737
type: Authorship
author rank in publication: 6
linked author: Gusella, James
linked information resource: D22S15--a fetal brain cDNA with BanII and SacI RFLP.

Authorship 758613
type: Authorship
author rank in publication: 1
linked author: Gusella, James
linked information resource: Genetic modifiers of Huntington's disease.

Genetic modifiers of Huntington's disease.
PubMed Identifier: 25154728
author list: Gusella JF, MacDonald ME, Lee JM
published in: Movement disorders : official journal of the Movement Disorder Society
information resource reference: Genetic modifiers of Huntington's disease. Mov Disord. 2014 Sep 15; 29(11):1359-65.
journal title abbreviation: Mov Disord
publication date: 2014-08-25T00:00:00
year: 2014
type: Academic Article
type: Article
type: Document
type: Information Resource

The Drosophila Huntington's disease gene ortholog dhtt influences chromatin regulation during development.
PubMed Identifier: 25168387
author list: Dietz KN, Di Stefano L, Maher RC, Zhu H, Macdonald ME, Gusella JF, Walker JA
published in: Human molecular genetics
information resource reference: The Drosophila Huntington's disease gene ortholog dhtt influences chromatin regulation during development. Hum Mol Genet. 2015 Jan 15; 24(2):330-45.
journal title abbreviation: Hum Mol Genet
publication date: 2014-08-28T00:00:00
year: 2014
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 213409
type: Authorship
author rank in publication: 9
linked author: Gusella, James
linked information resource: Differential expression of normal and mutant Huntington's disease gene alleles.

Authorship 219810
type: Authorship
author rank in publication: 8
linked author: Gusella, James
linked information resource: Early phenotypes that presage late-onset neurodegenerative disease allow testing of modifiers in Hdh CAG knock-in mice.

Authorship 347472
type: Authorship
author rank in publication: 2
linked author: Gusella, James
linked information resource: Molecular genetic strategies to investigate Huntington's disease.

Authorship 386205
type: Authorship
author rank in publication: 32
linked author: Gusella, James
linked information resource: Clinical genetic testing for patients with autism spectrum disorders.

Authorship 762112
type: Authorship
author rank in publication: 3
linked author: Gusella, James
linked information resource: Huntingtin Supplies a csaA-Independent Function Essential for EDTA-Resistant Homotypic Cell Adhesion in Dictyostelium discoideum.

Authorship 762067
type: Authorship
author rank in publication: 16
linked author: Gusella, James
linked information resource: Cryptic and complex chromosomal aberrations in early-onset neuropsychiatric disorders.

Huntingtin Supplies a csaA-Independent Function Essential for EDTA-Resistant Homotypic Cell Adhesion in Dictyostelium discoideum.
PubMed Identifier: 25300330
author list: Thompson MN, MacDonald ME, Gusella JF, Myre MA
published in: Journal of Huntington's disease
information resource reference: Huntingtin Supplies a csaA-Independent Function Essential for EDTA-Resistant Homotypic Cell Adhesion in Dictyostelium discoideum. J Huntingtons Dis. 2014; 3(3):261-71.
journal title abbreviation: J Huntingtons Dis
publication date: 2014-01-01T00:00:00
year: 2014
type: Academic Article
type: Article
type: Document
type: Information Resource

Cryptic and complex chromosomal aberrations in early-onset neuropsychiatric disorders.
PubMed Identifier: 25279985
author list: Brand H, Pillalamarri V, Collins RL, Eggert S, O'Dushlaine C, Braaten EB, Stone MR, Chambert K, Doty ND, Hanscom C, Rosenfeld JA, Ditmars H, Blais J, Mills R, Lee C, Gusella JF, McCarroll S, Smoller JW, Talkowski ME, Doyle AE
published in: American journal of human genetics
information resource reference: Cryptic and complex chromosomal aberrations in early-onset neuropsychiatric disorders. Am J Hum Genet. 2014 Oct 02; 95(4):454-61.
journal title abbreviation: Am J Hum Genet
publication date: 2014-10-02T00:00:00
year: 2014
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 765534
type: Authorship
author rank in publication: 16
linked author: Gusella, James
linked information resource: CHD8 regulates neurodevelopmental pathways associated with autism spectrum disorder in neural progenitors.

CHD8 regulates neurodevelopmental pathways associated with autism spectrum disorder in neural progenitors.
PubMed Identifier: 25294932
author list: Sugathan A, Biagioli M, Golzio C, Erdin S, Blumenthal I, Manavalan P, Ragavendran A, Brand H, Lucente D, Miles J, Sheridan SD, Stortchevoi A, Kellis M, Haggarty SJ, Katsanis N, Gusella JF, Talkowski ME
published in: Proceedings of the National Academy of Sciences of the United States of America
information resource reference: CHD8 regulates neurodevelopmental pathways associated with autism spectrum disorder in neural progenitors. Proc Natl Acad Sci U S A. 2014 Oct 21; 111(42):E4468-77.
journal title abbreviation: Proc Natl Acad Sci U S A
publication date: 2014-10-07T00:00:00
year: 2014
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 43753
type: Authorship
author rank in publication: 6
linked author: Gusella, James
linked information resource: Mapping of the gene encoding the beta-amyloid precursor protein and its relationship to the Down syndrome region of chromosome 21.

Authorship 43841
type: Authorship
author rank in publication: 8
linked author: Gusella, James
linked information resource: Relationship between trinucleotide repeat expansion and phenotypic variation in Huntington's disease.

Authorship 460935
type: Authorship
author rank in publication: 4
linked author: Gusella, James
linked information resource: The cloning and expression of a sodium channel beta 1-subunit cDNA from human brain.

Authorship 478348
type: Authorship
author rank in publication: 10
linked author: Gusella, James
linked information resource: Genetic linkage of bilateral acoustic neurofibromatosis to a DNA marker on chromosome 22.

Authorship 774998
type: Authorship
author rank in publication: 16
linked author: Gusella, James
linked information resource: Functionally compromised CHD7 alleles in patients with isolated GnRH deficiency.

Functionally compromised CHD7 alleles in patients with isolated GnRH deficiency.
PubMed Identifier: 25472840
author list: Balasubramanian R, Choi JH, Francescatto L, Willer J, Horton ER, Asimacopoulos EP, Stankovic KM, Plummer L, Buck CL, Quinton R, Nebesio TD, Mericq V, Merino PM, Meyer BF, Monies D, Gusella JF, Al Tassan N, Katsanis N, Crowley WF
published in: Proceedings of the National Academy of Sciences of the United States of America
information resource reference: Functionally compromised CHD7 alleles in patients with isolated GnRH deficiency. Proc Natl Acad Sci U S A. 2014 Dec 16; 111(50):17953-8.
journal title abbreviation: Proc Natl Acad Sci U S A
publication date: 2014-12-03T00:00:00
year: 2014
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 537609
type: Authorship
author rank in publication: 7
linked author: Gusella, James
linked information resource: A humanized IKBKAP transgenic mouse models a tissue-specific human splicing defect.

Authorship 777418
type: Authorship
author rank in publication: 6
linked author: Gusella, James
linked information resource: The Drosophila Huntington's disease gene ortholog dhtt influences chromatin regulation during development.

Authorship 507409
type: Authorship
author rank in publication: 8
linked author: Gusella, James
linked information resource: Analysis of the neurofibromatosis 2 gene reveals molecular variants of meningioma.

Authorship 557509
type: Authorship
author rank in publication: 7
linked author: Gusella, James
linked information resource: HD CAG repeat implicates a dominant property of huntingtin in mitochondrial energy metabolism.

Authorship 562296
type: Authorship
author rank in publication: 5
linked author: Gusella, James
linked information resource: The gene for achondroplasia maps to the telomeric region of chromosome 4p.

Authorship 545393
type: Authorship
author rank in publication: 7
linked author: Gusella, James
linked information resource: Neurofibromatosis 2: clinical and DNA linkage studies of a large kindred.

Authorship 564233
type: Authorship
author rank in publication: 7
linked author: Gusella, James
linked information resource: Linkage disequilibrium between the juvenile neuronal ceroid lipofuscinosis gene and marker loci on chromosome 16p 12.1.

Authorship 569630
type: Authorship
author rank in publication: 5
linked author: Gusella, James
linked information resource: Models for inherited susceptibility to cancer in the nervous system: a molecular-genetic approach to neurofibromatosis.

Authorship 83563
type: Authorship
author rank in publication: 3
linked author: Gusella, James
linked information resource: Large-scale medical resequencing for X-linked mental retardation.

Authorship 295369
type: Authorship
author rank in publication: 3
linked author: Gusella, James
linked information resource: High resolution localization of recombination hot spots using sperm typing.

Authorship 322560
type: Authorship
author rank in publication: 4
linked author: Gusella, James
linked information resource: Interdomain interaction of merlin isoforms and its influence on intermolecular binding to NHE-RF.

Authorship 529246
type: Authorship
author rank in publication: 3
linked author: Gusella, James
linked information resource: A high-resolution linkage map of human 9q34.1.

Authorship 39965
type: Authorship
author rank in publication: 15
linked author: Gusella, James
linked information resource: Mutations in CHD7, encoding a chromatin-remodeling protein, cause idiopathic hypogonadotropic hypogonadism and Kallmann syndrome.

Authorship 402331
type: Authorship
author rank in publication: 1
linked author: Gusella, James
linked information resource: Huntington's disease: the case for genetic modifiers.

Authorship 403306
type: Authorship
author rank in publication: 10
linked author: Gusella, James
linked information resource: A set of STS assays targeting the chromosome 22 physical framework markers.

Authorship 560361
type: Authorship
author rank in publication: 8
linked author: Gusella, James
linked information resource: Biotin-responsive basal ganglia disease maps to 2q36.3 and is due to mutations in SLC19A3.

Authorship 93015
type: Authorship
author rank in publication: 5
linked author: Gusella, James
linked information resource: Mapping of a target region of allelic loss to a 0.5-cM interval on chromosome 22q13 in human colorectal cancer.

Authorship 99713
type: Authorship
author rank in publication: 2
linked author: Gusella, James
linked information resource: Dinucleotide repeat polymorphism at the D9S119 locus (9q22-34).

Authorship 412366
type: Authorship
author rank in publication: 10
linked author: Gusella, James
linked information resource: Long glutamine tracts cause nuclear localization of a novel form of huntingtin in medium spiny striatal neurons in HdhQ92 and HdhQ111 knock-in mice.

Authorship 407218
type: Authorship
author rank in publication: 1
linked author: Gusella, James
linked information resource: Trinucleotide instability: a repeating theme in human inherited disorders.

Authorship 428839
type: Authorship
author rank in publication: 4
linked author: Gusella, James
linked information resource: Age- and gender-dependent obesity in individuals with 16p11.2 deletion.

Authorship 438212
type: Authorship
author rank in publication: 1
linked author: Gusella, James
linked information resource: Molecular genetics of Huntington's disease.

Authorship 464819
type: Authorship
author rank in publication: 8
linked author: Gusella, James
linked information resource: Factors associated with HD CAG repeat instability in Huntington disease.

Authorship 335489
type: Authorship
author rank in publication: 6
linked author: Gusella, James
linked information resource: The genomic structure of the human skeletal muscle sodium channel gene.

Authorship 204492
type: Authorship
author rank in publication: 35
linked author: Gusella, James
linked information resource: Sequencing chromosomal abnormalities reveals neurodevelopmental loci that confer risk across diagnostic boundaries.

Authorship 217152
type: Authorship
author rank in publication: 5
linked author: Gusella, James
linked information resource: Regional localization of DNA sequences on chromosome 21 using somatic cell hybrids.

Authorship 496112
type: Authorship
author rank in publication: 7
linked author: Gusella, James
linked information resource: NF2/merlin is a novel negative regulator of mTOR complex 1, and activation of mTORC1 is associated with meningioma and schwannoma growth.

Authorship 356896
type: Authorship
author rank in publication: 7
linked author: Gusella, James
linked information resource: Amyloid formation by mutant huntingtin: threshold, progressivity and recruitment of normal polyglutamine proteins.

Authorship 173380
type: Authorship
author rank in publication: 44
linked author: Gusella, James
linked information resource: Haplotypes and gene expression implicate the MAPT region for Parkinson disease: the GenePD Study.

Authorship 458246
type: Authorship
author rank in publication: 11
linked author: Gusella, James
linked information resource: Hypogonadotropic hypogonadism and cleft lip and palate caused by a balanced translocation producing haploinsufficiency for FGFR1.

Authorship 492421
type: Authorship
author rank in publication: 9
linked author: Gusella, James
linked information resource: Extensive molecular genetic analysis of the 3p14.3 region in patients with Zimmermann-Laband syndrome.

Authorship 493543
type: Authorship
author rank in publication: 10
linked author: Gusella, James
linked information resource: Longitudinal neuropsychological and genetic linkage analysis of persons at risk for Huntington's disease.

Authorship 542936
type: Authorship
author rank in publication: 3
linked author: Gusella, James
linked information resource: Modified single-stranded oligonucleotides inhibit aggregate formation and toxicity induced by expanded polyglutamine.

Authorship 395579
type: Authorship
author rank in publication: 5
linked author: Gusella, James
linked information resource: Huntingtin is required for neurogenesis and is not impaired by the Huntington's disease CAG expansion.

Authorship 548166
type: Authorship
author rank in publication: 9
linked author: Gusella, James
linked information resource: Molecular analysis of a deletion hotspot in the NRXN1 region reveals the involvement of short inverted repeats in deletion CNVs.

Authorship 572198
type: Authorship
author rank in publication: 10
linked author: Gusella, James
linked information resource: Length-dependent gametic CAG repeat instability in the Huntington's disease knock-in mouse.

Authorship 237371
type: Authorship
author rank in publication: 7
linked author: Gusella, James
linked information resource: Molecular genetics of familial Alzheimer's disease.

Authorship 422005
type: Authorship
author rank in publication: 2
linked author: Gusella, James
linked information resource: Molecular hybridization under conditions of high stringency permits cloned DNA segments containing reiterated DNA sequences to be assigned to specific chromosomal locations.

Authorship 423641
type: Authorship
author rank in publication: 6
linked author: Gusella, James
linked information resource: A genetic linkage map of human chromosome 9q.

Authorship 315203
type: Authorship
author rank in publication: 10
linked author: Gusella, James
linked information resource: Studies of a DNA marker (G8) genetically linked to Huntington disease in British families.

Authorship 76563
type: Authorship
author rank in publication: 8
linked author: Gusella, James
linked information resource: Genomewide association study for susceptibility genes contributing to familial Parkinson disease.

Authorship 190496
type: Authorship
author rank in publication: 8
linked author: Gusella, James
linked information resource: Regional assignment of the erythropoietin gene to human chromosome region 7pter----q22.

Authorship 31937
type: Authorship
author rank in publication: 3
linked author: Gusella, James
linked information resource: Candidate DNA replication initiation regions at human trinucleotide repeat disease loci.

Authorship 236007
type: Authorship
author rank in publication: 8
linked author: Gusella, James
linked information resource: Localization of one gene for tuberous sclerosis within 9q32-9q34, and further evidence for heterogeneity.

Authorship 439800
type: Authorship
author rank in publication: 8
linked author: Gusella, James
linked information resource: Germ-line mutations in the neurofibromatosis 2 gene: correlations with disease severity and retinal abnormalities.

Authorship 292803
type: Authorship
author rank in publication: 5
linked author: Gusella, James
linked information resource: Gamma-glutamyl transferase locus (GGT) displays a PvuII polymorphism.

Authorship 484762
type: Authorship
author rank in publication: 19
linked author: Gusella, James
linked information resource: The FERM domain: a unique module involved in the linkage of cytoplasmic proteins to the membrane.

Authorship 543061
type: Authorship
author rank in publication: 5
linked author: Gusella, James
linked information resource: Mice heterozygous for a mutation at the Nf2 tumor suppressor locus develop a range of highly metastatic tumors.

Authorship 564348
type: Authorship
author rank in publication: 11
linked author: Gusella, James
linked information resource: Characterization of apparently balanced chromosomal rearrangements from the developmental genome anatomy project.

Authorship 230397
type: Authorship
author rank in publication: 1
linked author: Gusella, James
linked information resource: Deletion of Huntington's disease-linked G8 (D4S10) locus in Wolf-Hirschhorn syndrome.

Authorship 295643
type: Authorship
author rank in publication: 6
linked author: Gusella, James
linked information resource: The alpha-subunit of the skeletal muscle sodium channel is encoded proximal to Tk-1 on mouse chromosome 11.

Authorship 29889
type: Authorship
author rank in publication: 24
linked author: Gusella, James
linked information resource: Complex reorganization and predominant non-homologous repair following chromosomal breakage in karyotypically balanced germline rearrangements and transgenic integration.

Authorship 220198
type: Authorship
author rank in publication: 4
linked author: Gusella, James
linked information resource: Linkage analysis identifies a novel locus for restless legs syndrome on chromosome 2q in a South Tyrolean population isolate.

Authorship 83598
type: Authorship
author rank in publication: 3
linked author: Gusella, James
linked information resource: Patient and physician attitudes regarding clinical trials in neurofibromatosis 1.

Authorship 87350
type: Authorship
author rank in publication: 9
linked author: Gusella, James
linked information resource: Localization of DNA sequences in region Xp21 of the human X chromosome: search for molecular markers close to the Duchenne muscular dystrophy locus.

Authorship 224324
type: Authorship
author rank in publication: 3
linked author: Gusella, James
linked information resource: Molecular neurobiology and genetics: investigation of neural function and dysfunction.

Authorship 268876
type: Authorship
author rank in publication: 8
linked author: Gusella, James
linked information resource: Sequence-tagged sites (STSs) for a set of mapped markers on chromosome 21.

Authorship 30830
type: Authorship
author rank in publication: 5
linked author: Gusella, James
linked information resource: A single nucleotide polymorphism in the matrix metalloproteinase-1 promoter creates an Ets binding site and augments transcription.

Authorship 250484
type: Authorship
author rank in publication: 10
linked author: Gusella, James
linked information resource: Targeted inactivation of the mouse Huntington's disease gene homolog Hdh.

Authorship 307083
type: Authorship
author rank in publication: 30
linked author: Gusella, James
linked information resource: Microdeletion/duplication at 15q13.2q13.3 among individuals with features of autism and other neuropsychiatric disorders.

Authorship 341011
type: Authorship
author rank in publication: 6
linked author: Gusella, James
linked information resource: Chromosome 19q deletions in human gliomas overlap telomeric to D19S219 and may target a 425 kb region centromeric to D19S112.

Authorship 203387
type: Authorship
author rank in publication: 20
linked author: Gusella, James
linked information resource: Venezuelan kindreds reveal that genetic and environmental factors modulate Huntington's disease age of onset.

Authorship 243275
type: Authorship
author rank in publication: 2
linked author: Gusella, James
linked information resource: A tiger behind many doors: multiple genetic pathways to malignant glioma.

Authorship 41275
type: Authorship
author rank in publication: 8
linked author: Gusella, James
linked information resource: The ornithine aminotransferase (OAT) locus is linked and distal to D10S20 on the long arm of chromosome 10.

Authorship 421481
type: Authorship
author rank in publication: 3
linked author: Gusella, James
linked information resource: Loss of genes on chromosome 22 in tumorigenesis of human acoustic neuroma.

Authorship 264666
type: Authorship
author rank in publication: 5
linked author: Gusella, James
linked information resource: Mapping of the gene for the Mel1a-melatonin receptor to human chromosome 4 (MTNR1A) and mouse chromosome 8 (Mtnr1a).

Authorship 214150
type: Authorship
author rank in publication: 1
linked author: Gusella, James
linked information resource: Sequence-tagged sites (STSs) spanning 4p16.3 and the Huntington disease candidate region.

Authorship 267981
type: Authorship
author rank in publication: 4
linked author: Gusella, James
linked information resource: Molecular genetic approach to human meningioma: loss of genes on chromosome 22.

Authorship 294444
type: Authorship
author rank in publication: 10
linked author: Gusella, James
linked information resource: Oligogenic basis of isolated gonadotropin-releasing hormone deficiency.

Authorship 308029
type: Authorship
author rank in publication: 31
linked author: Gusella, James
linked information resource: Disruption of a large intergenic noncoding RNA in subjects with neurodevelopmental disabilities.

Authorship 317526
type: Authorship
author rank in publication: 3
linked author: Gusella, James
linked information resource: Molecular genetics of Alzheimer disease amyloid.

Authorship 330534
type: Authorship
author rank in publication: 7
linked author: Gusella, James
linked information resource: Modeling NF2 with human arachnoidal and meningioma cell culture systems: NF2 silencing reflects the benign character of tumor growth.

Authorship 42670
type: Authorship
author rank in publication: 10
linked author: Gusella, James
linked information resource: Genetic linkage analysis of neurofibromatosis with DNA markers.

Authorship 281373
type: Authorship
author rank in publication: 9
linked author: Gusella, James
linked information resource: Association of the long QT syndrome With goiter and deafness.

Authorship 1249
type: Authorship
author rank in publication: 7
linked author: Gusella, James
linked information resource: Evidence for the GluR6 gene associated with younger onset age of Huntington's disease.

Authorship 311780
type: Authorship
author rank in publication: 4
linked author: Gusella, James
linked information resource: Disruption of a synaptotagmin (SYT14) associated with neurodevelopmental abnormalities.

Authorship 322500
type: Authorship
author rank in publication: 3
linked author: Gusella, James
linked information resource: DNA methylation affecting the expression of murine leukemia proviruses.

Authorship 328625
type: Authorship
author rank in publication: 5
linked author: Gusella, James
linked information resource: Molecular analysis of chromosome 21 using somatic cell hybrids.

Authorship 334356
type: Authorship
author rank in publication: 5
linked author: Gusella, James
linked information resource: Construction of a GT polymorphism map of human 9q.

Authorship 351954
type: Authorship
author rank in publication: 4
linked author: Gusella, James
linked information resource: An 86-bp VNTR within IDUA is the basis of the D4S111 polymorphic locus.

Authorship 381651
type: Authorship
author rank in publication: 15
linked author: Gusella, James
linked information resource: The GPR54 gene as a regulator of puberty.

Authorship 426316
type: Authorship
author rank in publication: 5
linked author: Gusella, James
linked information resource: Exclusion mapping of the hereditary dentatorubropallidoluysian atrophy gene from the Huntington's disease locus.

Authorship 468724
type: Authorship
author rank in publication: 4
linked author: Gusella, James
linked information resource: Mapping of the DNA locus D4S10 and the linked Huntington's disease gene to 4p16----p15.

Authorship 48462
type: Authorship
author rank in publication: 6
linked author: Gusella, James
linked information resource: Huntingtin immunoreactivity in the rat neostriatum: differential accumulation in projection and interneurons.

Authorship 512802
type: Authorship
author rank in publication: 13
linked author: Gusella, James
linked information resource: Cloning, mapping, and expression of two novel actin genes, actin-like-7A (ACTL7A) and actin-like-7B (ACTL7B), from the familial dysautonomia candidate region on 9q31.

Authorship 517872
type: Authorship
author rank in publication: 8
linked author: Gusella, James
linked information resource: Isolation, characterization, and mapping of gene encoding dihydrolipoyl succinyltransferase (E2k) of human alpha-ketoglutarate dehydrogenase complex.

Authorship 225944
type: Authorship
author rank in publication: 1
linked author: Gusella, James
linked information resource: Hunting for Huntington's disease.

Authorship 347840
type: Authorship
author rank in publication: 14
linked author: Gusella, James
linked information resource: Detection of copy number variants reveals association of cilia genes with neural tube defects.

Authorship 262425
type: Authorship
author rank in publication: 2
linked author: Gusella, James
linked information resource: Progress towards the isolation and characterization of the genes causing neurofibromatosis.

Authorship 20788
type: Authorship
author rank in publication: 10
linked author: Gusella, James
linked information resource: Genetic linkage map of human chromosome 21.

Authorship 557729
type: Authorship
author rank in publication: 8
linked author: Gusella, James
linked information resource: A genetic linkage map of the long arm of human chromosome 22.

Authorship 570854
type: Authorship
author rank in publication: 9
linked author: Gusella, James
linked information resource: The isolation of cDNAs within the Huntington disease region by hybridisation of yeast artificial chromosomes to a cDNA library.

Authorship 243825
type: Authorship
author rank in publication: 20
linked author: Gusella, James
linked information resource: An ancient founder mutation in PROKR2 impairs human reproduction.

Authorship 297668
type: Authorship
author rank in publication: 5
linked author: Gusella, James
linked information resource: A RsaI polymorphism in the ERCC2 locus.

Authorship 341474
type: Authorship
author rank in publication: 6
linked author: Gusella, James
linked information resource: Molecular analysis of the NF2 tumor-suppressor gene in schwannomatosis.

Authorship 384122
type: Authorship
author rank in publication: 8
linked author: Gusella, James
linked information resource: Screening for familial APP mutations in sporadic cerebral amyloid angiopathy.

Authorship 444096
type: Authorship
author rank in publication: 6
linked author: Gusella, James
linked information resource: BanI polymorphism at the XBP1 locus.

Authorship 40155
type: Authorship
author rank in publication: 1
linked author: Gusella, James
linked information resource: Expanding the notion of disease in Huntington's disease.

Authorship 2706
type: Authorship
author rank in publication: 8
linked author: Gusella, James
linked information resource: Identification of the first non-Jewish mutation in familial Dysautonomia.

Authorship 224381
type: Authorship
author rank in publication: 3
linked author: Gusella, James
linked information resource: A new RFLP for D18S3(B74) an anonymous genomic clone localized to 18p113.

Authorship 243938
type: Authorship
author rank in publication: 27
linked author: Gusella, James
linked information resource: NFIA haploinsufficiency is associated with a CNS malformation syndrome and urinary tract defects.

Authorship 304740
type: Authorship
author rank in publication: 7
linked author: Gusella, James
linked information resource: Flanking markers bracket the neurofibromatosis type 2 (NF2) gene on chromosome 22.

Authorship 312631
type: Authorship
author rank in publication: 3
linked author: Gusella, James
linked information resource: Modification of the Na+ current conducted by the rat skeletal muscle alpha subunit by coexpression with a human brain beta subunit.

Authorship 313760
type: Authorship
author rank in publication: 3
linked author: Gusella, James
linked information resource: Genetic analysis workshop IV: Huntington disease linkage analysis, data description.

Authorship 341696
type: Authorship
author rank in publication: 4
linked author: Gusella, James
linked information resource: Identification of a novel kindred with familial pancreatitis and pancreatic cancer.

Authorship 375025
type: Authorship
author rank in publication: 6
linked author: Gusella, James
linked information resource: Meclizine is neuroprotective in models of Huntington's disease.

Authorship 401387
type: Authorship
author rank in publication: 7
linked author: Gusella, James
linked information resource: Inactivation patterns of NF2 and DAL-1/4.1B (EPB41L3) in sporadic meningioma.

Authorship 409986
type: Authorship
author rank in publication: 5
linked author: Gusella, James
linked information resource: Expression of SMARCB1 (INI1) mutations in familial schwannomatosis.

Authorship 449616
type: Authorship
author rank in publication: 7
linked author: Gusella, James
linked information resource: Analysis of the neurofibromatosis 2 gene in human ependymomas and astrocytomas.

Authorship 500164
type: Authorship
author rank in publication: 4
linked author: Gusella, James
linked information resource: The gelsolin (GSN) cDNA clone, from 9q32-34, identifies BclI and StuI RFLPs.

Authorship 508444
type: Authorship
author rank in publication: 2
linked author: Gusella, James
linked information resource: Dinucleotide repeat polymorphism at the D9S115 locus (9q31-34).

Authorship 511391
type: Authorship
author rank in publication: 6
linked author: Gusella, James
linked information resource: Molecular heterogeneity of late-onset forms of globoid-cell leukodystrophy.

Authorship 547927
type: Authorship
author rank in publication: 7
linked author: Gusella, James
linked information resource: Detection by PCR of the VNTR polymorphism at D4S95.

Authorship 55695
type: Authorship
author rank in publication: 7
linked author: Gusella, James
linked information resource: Regulation of mTOR complex 2 signaling in neurofibromatosis 2-deficient target cell types.

Authorship 557857
type: Authorship
author rank in publication: 6
linked author: Gusella, James
linked information resource: Amyloid protein precursor messenger RNAs: differential expression in Alzheimer's disease.

Authorship 169896
type: Authorship
author rank in publication: 1
linked author: Gusella, James
linked information resource: Dissociation of hemoglobin accumulation and commitment during murine erythroleukemia cell differentiation by treatment with imidazole.

Authorship 275950
type: Authorship
author rank in publication: 17
linked author: Gusella, James
linked information resource: Prevalence of incompletely penetrant Huntington's disease alleles among individuals with major depressive disorder.

Authorship 458747
type: Authorship
author rank in publication: 7
linked author: Gusella, James
linked information resource: The NF2 gene and merlin protein in human osteosarcomas.

Authorship 280573
type: Authorship
author rank in publication: 5
linked author: Gusella, James
linked information resource: Mouse neurofibromatosis type 1 cDNA sequence reveals high degree of conservation of both coding and non-coding mRNA segments.

Authorship 58457
type: Authorship
author rank in publication: 6
linked author: Gusella, James
linked information resource: Physical mapping of a translocation breakpoint in neurofibromatosis.

Authorship 338030
type: Authorship
author rank in publication: 7
linked author: Gusella, James
linked information resource: A point mutation associated with a severe phenotype of neurofibromatosis 2.

Authorship 392080
type: Authorship
author rank in publication: 2
linked author: Gusella, James
linked information resource: Dinucleotide repeat polymorphism at the D9S117 locus (9q31-34).

Authorship 401998
type: Authorship
author rank in publication: 5
linked author: Gusella, James
linked information resource: Control of proliferation and differentiation in cells transformed by Friend virus.

Authorship 403228
type: Authorship
author rank in publication: 28
linked author: Gusella, James
linked information resource: Evidence for a modifier of onset age in Huntington disease linked to the HD gene in 4p16.

Authorship 418072
type: Authorship
author rank in publication: 1
linked author: Gusella, James
linked information resource: No post-genetics era in human disease research.

Authorship 4258
type: Authorship
author rank in publication: 31
linked author: Gusella, James
linked information resource: A haplotype at the PARK3 locus influences onset age for Parkinson's disease: the GenePD study.

Authorship 791647
type: Authorship
author rank in publication: 16
linked author: Gusella, James
linked information resource: A Potential Contributory Role for Ciliary Dysfunction in the 16p11.2 600 kb BP4-BP5 Pathology.

Authorship 804296
type: Authorship
author rank in publication: 14
linked author: Gusella, James
linked information resource: Htt CAG repeat expansion confers pleiotropic gains of mutant huntingtin function in chromatin regulation.

Authorship 575149
type: Authorship
author rank in publication: 8
linked author: Gusella, James
linked information resource: Assessment of cortical and striatal involvement in 523 Huntington disease brains.

Authorship 789833
type: Authorship
author rank in publication: 21
linked author: Gusella, James
linked information resource: MATR3 disruption in human and mouse associated with bicuspid aortic valve, aortic coarctation and patent ductus arteriosus.

Authorship 794738
type: Authorship
author rank in publication: 10
linked author: Gusella, James
linked information resource: Haplotype analysis of the 4p16.3 region in Portuguese families with Huntington's disease.

Authorship 807122
type: Authorship
author rank in publication: 6
linked author: Gusella, James
linked information resource: miR-10b-5p expression in Huntington's disease brain relates to age of onset and the extent of striatal involvement.

Authorship 802926
type: Authorship
author rank in publication: 6
linked author: Gusella, James
linked information resource: Prevalence of Huntington's disease gene CAG trinucleotide repeat alleles in patients with bipolar disorder.

MATR3 disruption in human and mouse associated with bicuspid aortic valve, aortic coarctation and patent ductus arteriosus.
PubMed Identifier: 25574029
author list: Quintero-Rivera F, Xi QJ, Keppler-Noreuil KM, Lee JH, Higgins AW, Anchan RM, Roberts AE, Seong IS, Fan X, Lage K, Lu LY, Tao J, Hu X, Berezney R, Gelb BD, Kamp A, Moskowitz IP, Lacro RV, Lu W, Morton CC, Gusella JF, Maas RL
published in: Human molecular genetics
information resource reference: MATR3 disruption in human and mouse associated with bicuspid aortic valve, aortic coarctation and patent ductus arteriosus. Hum Mol Genet. 2015 Apr 15; 24(8):2375-89.
journal title abbreviation: Hum Mol Genet
publication date: 2015-01-07T00:00:00
year: 2015
type: Academic Article
type: Article
type: Document
type: Information Resource

Htt CAG repeat expansion confers pleiotropic gains of mutant huntingtin function in chromatin regulation.
PubMed Identifier: 25574027
author list: Biagioli M, Ferrari F, Mendenhall EM, Zhang Y, Erdin S, Vijayvargia R, Vallabh SM, Solomos N, Manavalan P, Ragavendran A, Ozsolak F, Lee JM, Talkowski ME, Gusella JF, Macdonald ME, Park PJ, Seong IS
published in: Human molecular genetics
information resource reference: Htt CAG repeat expansion confers pleiotropic gains of mutant huntingtin function in chromatin regulation. Hum Mol Genet. 2015 May 01; 24(9):2442-57.
journal title abbreviation: Hum Mol Genet
publication date: 2015-01-08T00:00:00
year: 2015
type: Academic Article
type: Article
type: Document
type: Information Resource

Prevalence of Huntington's disease gene CAG trinucleotide repeat alleles in patients with bipolar disorder.
PubMed Identifier: 25726852
author list: Ramos EM, Gillis T, Mysore JS, Lee JM, Alonso I, Gusella JF, Smoller JW, Sklar P, MacDonald ME, Perlis RH
published in: Bipolar disorders
information resource reference: Prevalence of Huntington's disease gene CAG trinucleotide repeat alleles in patients with bipolar disorder. Bipolar Disord. 2015 Jun; 17(4):403-8.
journal title abbreviation: Bipolar Disord
publication date: 2015-02-26T00:00:00
year: 2015
type: Academic Article
type: Article
type: Document
type: Information Resource

Haplotype analysis of the 4p16.3 region in Portuguese families with Huntington's disease.
PubMed Identifier: 25656686
author list: Ramos EM, Gillis T, Mysore JS, Lee JM, Gögele M, D'Elia Y, Pichler I, Sequeiros J, Pramstaller PP, Gusella JF, MacDonald ME, Alonso I
published in: American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics
information resource reference: Haplotype analysis of the 4p16.3 region in Portuguese families with Huntington's disease. Am J Med Genet B Neuropsychiatr Genet. 2015 Mar; 168B(2):135-43.
journal title abbreviation: Am J Med Genet B Neuropsychiatr Genet
publication date: 2015-02-05T00:00:00
year: 2015
type: Academic Article
type: Article
type: Document
type: Information Resource

A Potential Contributory Role for Ciliary Dysfunction in the 16p11.2 600 kb BP4-BP5 Pathology.
PubMed Identifier: 25937446
author list: Migliavacca E, Golzio C, Männik K, Blumenthal I, Oh EC, Harewood L, Kosmicki JA, Loviglio MN, Giannuzzi G, Hippolyte L, Maillard AM, Alfaiz AA, van Haelst MM, Andrieux J, Gusella JF, Daly MJ, Beckmann JS, Jacquemont S, Talkowski ME, Katsanis N, Reymond A
published in: American journal of human genetics
information resource reference: A Potential Contributory Role for Ciliary Dysfunction in the 16p11.2 600 kb BP4-BP5 Pathology. Am J Hum Genet. 2015 May 07; 96(5):784-96.
journal title abbreviation: Am J Hum Genet
publication date: 2015-04-30T00:00:00
year: 2015
type: Academic Article
type: Article
type: Document
type: Information Resource

miR-10b-5p expression in Huntington's disease brain relates to age of onset and the extent of striatal involvement.
PubMed Identifier: 25889241
author list: Hoss AG, Labadorf A, Latourelle JC, Kartha VK, Hadzi TC, Gusella JF, MacDonald ME, Chen JF, Akbarian S, Weng Z, Vonsattel JP, Myers RH
published in: BMC medical genomics
information resource reference: miR-10b-5p expression in Huntington's disease brain relates to age of onset and the extent of striatal involvement. BMC Med Genomics. 2015 Mar 01; 8:10.
journal title abbreviation: BMC Med Genomics
publication date: 2015-03-01T00:00:00
year: 2015
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 88533
type: Authorship
author rank in publication: 1
linked author: Gusella, James
linked information resource: Huntingtin: a single bait hooks many species.

Authorship 247339
type: Authorship
author rank in publication: 1
linked author: Gusella, James
linked information resource: DNA polymorphism and human disease.

Authorship 260432
type: Authorship
author rank in publication: 16
linked author: Gusella, James
linked information resource: Fine localization of the torsion dystonia gene (DYT1) on human chromosome 9q34: YAC map and linkage disequilibrium.

Authorship 289622
type: Authorship
author rank in publication: 5
linked author: Gusella, James
linked information resource: Partial linkage map of chromosome 13q in the region of the Wilson disease and retinoblastoma genes.

Authorship 316664
type: Authorship
author rank in publication: 6
linked author: Gusella, James
linked information resource: A comparison of neurological, metabolic, structural, and genetic evaluations in persons at risk for Huntington's disease.

Authorship 339862
type: Authorship
author rank in publication: 9
linked author: Gusella, James
linked information resource: Linkage map on chromosome 21q and the association of a DNA haplotype with a propensity to nondisjunction and trisomy 21.

Authorship 29202
type: Authorship
author rank in publication: 8
linked author: Gusella, James
linked information resource: Quantitative neuropathological changes in presymptomatic Huntington's disease.

Authorship 339883
type: Authorship
author rank in publication: 8
linked author: Gusella, James
linked information resource: Ring chromosome 21: characterization of DNA sequences at sites of breakage and reunion.

Authorship 352508
type: Authorship
author rank in publication: 7
linked author: Gusella, James
linked information resource: Common pathogenetic mechanism for three tumor types in bilateral acoustic neurofibromatosis.

Authorship 413065
type: Authorship
author rank in publication: 6
linked author: Gusella, James
linked information resource: The parental origin of new mutations in neurofibromatosis 2.

Authorship 424902
type: Authorship
author rank in publication: 8
linked author: Gusella, James
linked information resource: Association of apolipoprotein E allele epsilon 4 with late-onset familial and sporadic Alzheimer's disease.

Authorship 467548
type: Authorship
author rank in publication: 3
linked author: Gusella, James
linked information resource: Relative argininosuccinate synthetase mRNA levels and gene copy number in canavanine-resistant lymphoblasts.

Authorship 487619
type: Authorship
author rank in publication: 4
linked author: Gusella, James
linked information resource: Molecular genetics of human chromosome 21.

Authorship 503672
type: Authorship
author rank in publication: 7
linked author: Gusella, James
linked information resource: Molecular and cytogenetic characterization of a de novo t(5p;21q) in a patient previously diagnosed as monosomy 21.

Authorship 518784
type: Authorship
author rank in publication: 37
linked author: Gusella, James
linked information resource: Influence of heterozygosity for parkin mutation on onset age in familial Parkinson disease: the GenePD study.

Authorship 521664
type: Authorship
author rank in publication: 10
linked author: Gusella, James
linked information resource: Trinucleotide repeat length and progression of illness in Huntington's disease.

Authorship 530094
type: Authorship
author rank in publication: 1
linked author: Gusella, James
linked information resource: Precise localization of human beta-globin gene complex on chromosome 11.

Authorship 541911
type: Authorship
author rank in publication: 18
linked author: Gusella, James
linked information resource: Precise genetic mapping and haplotype analysis of the familial dysautonomia gene on human chromosome 9q31.

Authorship 371702
type: Authorship
author rank in publication: 1
linked author: Gusella, James
linked information resource: Commitment to erythroid differentiation by friend erythroleukemia cells: a stochastic analysis.

Authorship 446465
type: Authorship
author rank in publication: 1
linked author: Gusella, James
linked information resource: Huntington's disease and repeating trinucleotides.

Authorship 448671
type: Authorship
author rank in publication: 2
linked author: Gusella, James
linked information resource: Amyloid beta protein gene: cDNA, mRNA distribution, and genetic linkage near the Alzheimer locus.

Authorship 467181
type: Authorship
author rank in publication: 3
linked author: Gusella, James
linked information resource: Huntington's disease.

Authorship 48292
type: Authorship
author rank in publication: 8
linked author: Gusella, James
linked information resource: Isolation of polymorphic DNA fragments from human chromosome 4.

Authorship 486270
type: Authorship
author rank in publication: 2
linked author: Gusella, James
linked information resource: Application of recombinant DNA techniques to neurogenetic disorders.

Authorship 495421
type: Authorship
author rank in publication: 7
linked author: Gusella, James
linked information resource: Estimating the probability of de novo HD cases from transmissions of expanded penetrant CAG alleles in the Huntington disease gene from male carriers of high normal alleles (27-35 CAG).

Authorship 513590
type: Authorship
author rank in publication: 9
linked author: Gusella, James
linked information resource: Localization of juvenile, but not late-infantile, neuronal ceroid lipofuscinosis on chromosome 16.

Authorship 54400
type: Authorship
author rank in publication: 6
linked author: Gusella, James
linked information resource: DNA diagnosis of neurofibromatosis 2. Altered coding sequence of the merlin tumor suppressor in an extended pedigree.

Authorship 176704
type: Authorship
author rank in publication: 5
linked author: Gusella, James
linked information resource: Detection by PCR of a VNTR polymorphism at D4S43.

Authorship 290780
type: Authorship
author rank in publication: 10
linked author: Gusella, James
linked information resource: KCTD13 is a major driver of mirrored neuroanatomical phenotypes of the 16p11.2 copy number variant.

Authorship 356548
type: Authorship
author rank in publication: 3
linked author: Gusella, James
linked information resource: Phenotypic variation in 2 Huntington's disease families with linkage to chromosome 4.

Authorship 814033
type: Authorship
author rank in publication: 13
linked author: Gusella, James
linked information resource: Paired-Duplication Signatures Mark Cryptic Inversions and Other Complex Structural Variation.

Paired-Duplication Signatures Mark Cryptic Inversions and Other Complex Structural Variation.
PubMed Identifier: 26094575
author list: Brand H, Collins RL, Hanscom C, Rosenfeld JA, Pillalamarri V, Stone MR, Kelley F, Mason T, Margolin L, Eggert S, Mitchell E, Hodge JC, Gusella JF, Sanders SJ, Talkowski ME
published in: American journal of human genetics
information resource reference: Paired-Duplication Signatures Mark Cryptic Inversions and Other Complex Structural Variation. Am J Hum Genet. 2015 Jul 02; 97(1):170-6.
journal title abbreviation: Am J Hum Genet
publication date: 2015-06-18T00:00:00
year: 2015
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 305582
type: Authorship
author rank in publication: 14
linked author: Gusella, James
linked information resource: Development of a focused oligonucleotide-array comparative genomic hybridization chip for clinical diagnosis of genomic imbalance.

Authorship 290062
type: Authorship
author rank in publication: 5
linked author: Gusella, James
linked information resource: Contribution of copy number variants involving nonsense-mediated mRNA decay pathway genes to neuro-developmental disorders.

Authorship 297286
type: Authorship
author rank in publication: 7
linked author: Gusella, James
linked information resource: Dinucleotide repeat polymorphisms (D21S223 and D21S224) at 21q22.1.

Authorship 308036
type: Authorship
author rank in publication: 6
linked author: Gusella, James
linked information resource: Loss of the NF2 gene and merlin occur by the tumorlet stage of schwannoma development in neurofibromatosis 2.

A high-throughput kinome screen reveals serum/glucocorticoid-regulated kinase 1 as a therapeutic target for NF2-deficient meningiomas.
PubMed Identifier: 26219339
author list: Beauchamp RL, James MF, DeSouza PA, Wagh V, Zhao WN, Jordan JT, Stemmer-Rachamimov A, Plotkin SR, Gusella JF, Haggarty SJ, Ramesh V
published in: Oncotarget
information resource reference: A high-throughput kinome screen reveals serum/glucocorticoid-regulated kinase 1 as a therapeutic target for NF2-deficient meningiomas. Oncotarget. 2015 Jul 10; 6(19):16981-97.
journal title abbreviation: Oncotarget
publication date: 2015-07-10T00:00:00
year: 2015
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 819018
type: Authorship
author rank in publication: 9
linked author: Gusella, James
linked information resource: A high-throughput kinome screen reveals serum/glucocorticoid-regulated kinase 1 as a therapeutic target for NF2-deficient meningiomas.

Authorship 406242
type: Authorship
author rank in publication: 2
linked author: Gusella, James
linked information resource: Dinucleotide repeat polymorphism at the D9S120 locus (9q31-34).

Authorship 444001
type: Authorship
author rank in publication: 5
linked author: Gusella, James
linked information resource: The molecular biology of human glial tumors.

Authorship 449242
type: Authorship
author rank in publication: 12
linked author: Gusella, James
linked information resource: Exon trapping and sequence-based methods of gene finding in transcript mapping of human 4p16.3.

Authorship 466219
type: Authorship
author rank in publication: 1
linked author: Gusella, James
linked information resource: Genetic linkage map for chromosome 21.

Authorship 485539
type: Authorship
author rank in publication: 3
linked author: Gusella, James
linked information resource: Self-injurious behaviours in people with and without intellectual delay: implications for the genetics of suicide.

Authorship 487272
type: Authorship
author rank in publication: 6
linked author: Gusella, James
linked information resource: Rapid induction of Alzheimer A beta amyloid formation by zinc.

Authorship 504391
type: Authorship
author rank in publication: 10
linked author: Gusella, James
linked information resource: A somatic cell hybrid panel for localizing DNA segments near the Huntington's disease gene.

Authorship 529749
type: Authorship
author rank in publication: 4
linked author: Gusella, James
linked information resource: Characterization of a duplication in the terminal band of 4p by molecular cytogenetics.

Authorship 538686
type: Authorship
author rank in publication: 4
linked author: Gusella, James
linked information resource: MboI RFLP at the D4S43 (C4H) locus.

Authorship 835912
type: Authorship
author rank in publication: 19
linked author: Gusella, James
linked information resource: Sequence-Level Analysis of the Major European Huntington Disease Haplotype.

Sequence-Level Analysis of the Major European Huntington Disease Haplotype.
PubMed Identifier: 26320893
author list: Lee JM, Kim KH, Shin A, Chao MJ, Abu Elneel K, Gillis T, Mysore JS, Kaye JA, Zahed H, Kratter IH, Daub AC, Finkbeiner S, Li H, Roach JC, Goodman N, Hood L, Myers RH, MacDonald ME, Gusella JF
published in: American journal of human genetics
information resource reference: Sequence-Level Analysis of the Major European Huntington Disease Haplotype. Am J Hum Genet. 2015 Sep 03; 97(3):435-44.
journal title abbreviation: Am J Hum Genet
publication date: 2015-08-27T00:00:00
year: 2015
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 64627
type: Authorship
author rank in publication: 4
linked author: Gusella, James
linked information resource: Molecular genetics of pediatric brain stem gliomas. Application of PCR techniques to small and archival brain tumor specimens.

Authorship 366472
type: Authorship
author rank in publication: 2
linked author: Gusella, James
linked information resource: Dinucleotide repeat polymorphism at the D9S121 locus (9q31-34).

Authorship 390481
type: Authorship
author rank in publication: 2
linked author: Gusella, James
linked information resource: Lack of evidence for association of meiotic nondisjunction with particular DNA haplotypes on chromosome 21.

Authorship 39080
type: Authorship
author rank in publication: 7
linked author: Gusella, James
linked information resource: Role of common and rare APP DNA sequence variants in Alzheimer disease.

Authorship 839538
type: Authorship
author rank in publication: 17
linked author: Gusella, James
linked information resource: Expanding the Spectrum of Founder Mutations Causing Isolated Gonadotropin-Releasing Hormone Deficiency.

Authorship 840447
type: Authorship
author rank in publication: 7
linked author: Gusella, James
linked information resource: Mediator Subunit Med28 Is Essential for Mouse Peri-Implantation Development and Pluripotency.

Authorship 840000
type: Authorship
author rank in publication: 11
linked author: Gusella, James
linked information resource: The Genetic Modifiers of Motor OnsetAge (GeM MOA) Website: Genome-wide Association Analysis for Genetic Modifiers of Huntington's Disease.

The Genetic Modifiers of Motor OnsetAge (GeM MOA) Website: Genome-wide Association Analysis for Genetic Modifiers of Huntington's Disease.
PubMed Identifier: 26444025
author list: Correia K, Harold D, Kim KH, Holmans P, Jones L, Orth M, Myers RH, Kwak S, Wheeler VC, MacDonald ME, Gusella JF, Lee JM
published in: Journal of Huntington's disease
information resource reference: The Genetic Modifiers of Motor OnsetAge (GeM MOA) Website: Genome-wide Association Analysis for Genetic Modifiers of Huntington's Disease. J Huntingtons Dis. 2015; 4(3):279-84.
journal title abbreviation: J Huntingtons Dis
publication date: 2015-01-01T00:00:00
year: 2015
type: Academic Article
type: Article
type: Document
type: Information Resource

Mediator Subunit Med28 Is Essential for Mouse Peri-Implantation Development and Pluripotency.
PubMed Identifier: 26445504
author list: Li L, Walsh RM, Wagh V, James MF, Beauchamp RL, Chang YS, Gusella JF, Hochedlinger K, Ramesh V
published in: PloS one
information resource reference: Mediator Subunit Med28 Is Essential for Mouse Peri-Implantation Development and Pluripotency. PLoS One. 2015; 10(10):e0140192.
journal title abbreviation: PLoS One
publication date: 2015-10-07T00:00:00
year: 2015
type: Academic Article
type: Article
type: Document
type: Information Resource

Expanding the Spectrum of Founder Mutations Causing Isolated Gonadotropin-Releasing Hormone Deficiency.
PubMed Identifier: 26207952
author list: Choi JH, Balasubramanian R, Lee PH, Shaw ND, Hall JE, Plummer L, Buck CL, Kottler ML, Jarzabek K, Wolczynski S, Quinton R, Latronico AC, Dode C, Ogata T, Kim HG, Layman LC, Gusella JF, Crowley WF
published in: The Journal of clinical endocrinology and metabolism
information resource reference: Expanding the Spectrum of Founder Mutations Causing Isolated Gonadotropin-Releasing Hormone Deficiency. J Clin Endocrinol Metab. 2015 Oct; 100(10):E1378-85.
journal title abbreviation: J Clin Endocrinol Metab
publication date: 2015-07-24T00:00:00
year: 2015
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 423713
type: Authorship
author rank in publication: 7
linked author: Gusella, James
linked information resource: Genomewide linkage study of modifiers of LRRK2-related Parkinson's disease.

Authorship 844178
type: Authorship
author rank in publication: 3
linked author: Gusella, James
linked information resource: Heritability of Risk for Sudden Cardiac Arrest in ESRD.

Heritability of Risk for Sudden Cardiac Arrest in ESRD.
PubMed Identifier: 25882830
author list: Chan KE, Newton-Cheh C, Gusella JF, Maddux FW
published in: Journal of the American Society of Nephrology : JASN
information resource reference: Heritability of Risk for Sudden Cardiac Arrest in ESRD. J Am Soc Nephrol. 2015 Nov; 26(11):2815-20.
journal title abbreviation: J Am Soc Nephrol
publication date: 2015-04-16T00:00:00
year: 2015
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 498447
type: Authorship
author rank in publication: 9
linked author: Gusella, James
linked information resource: Peripherin gene is linked to keratin 18 gene on human chromosome 12.

Authorship 501039
type: Authorship
author rank in publication: 5
linked author: Gusella, James
linked information resource: Clonal analysis of a case of multiple meningiomas using multiple molecular genetic approaches: pathology case report.

Authorship 851214
type: Authorship
author rank in publication: 8
linked author: Gusella, James
linked information resource: RNA Sequence Analysis of Human Huntington Disease Brain Reveals an Extensive Increase in Inflammatory and Developmental Gene Expression.

RNA Sequence Analysis of Human Huntington Disease Brain Reveals an Extensive Increase in Inflammatory and Developmental Gene Expression.
PubMed Identifier: 26636579
author list: Labadorf A, Hoss AG, Lagomarsino V, Latourelle JC, Hadzi TC, Bregu J, MacDonald ME, Gusella JF, Chen JF, Akbarian S, Weng Z, Myers RH
published in: PloS one
information resource reference: RNA Sequence Analysis of Human Huntington Disease Brain Reveals an Extensive Increase in Inflammatory and Developmental Gene Expression. PLoS One. 2015; 10(12):e0143563.
journal title abbreviation: PLoS One
publication date: 2015-12-04T00:00:00
year: 2015
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 430938
type: Authorship
author rank in publication: 3
linked author: Gusella, James
linked information resource: Huntington disease: estimation of heterozygote status using linked genetic markers.

Authorship 438357
type: Authorship
author rank in publication: 7
linked author: Gusella, James
linked information resource: Genetic analysis of the GRIK2 modifier effect in Huntington's disease.

Authorship 510991
type: Authorship
author rank in publication: 1
linked author: Gusella, James
linked information resource: Inflammatory bowel disease: is it in the genes?

Authorship 860608
type: Authorship
author rank in publication: 108
linked author: Gusella, James
linked information resource: Clinical-Genetic Associations in the Prospective Huntington at Risk Observational Study (PHAROS): Implications for Clinical Trials.

Clinical-Genetic Associations in the Prospective Huntington at Risk Observational Study (PHAROS): Implications for Clinical Trials.
PubMed Identifier: 26569098
author list: Biglan KM, Shoulson I, Kieburtz K, Oakes D, Kayson E, Shinaman MA, Zhao H, Romer M, Young A, Hersch S, Penney J, Marder K, Paulsen J, Quaid K, Siemers E, Tanner C, Mallonee W, Suter G, Dubinsky R, Gray C, Nance M, Bundlie S, Radtke D, Kostyk S, Baic C, Caress J, Walker F, Hunt V, O'Neill C, Chouinard S, Factor S, Greenamyre T, Wood-Siverio C, Corey-Bloom J, Song D, Peavy G, Moskowitz C, Wesson M, Samii A, Bird T, Lipe H, Blindauer K, Marshall F, Zimmerman C, Goldstein J, Rosas D, Novak P, Caviness J, Adler C, Duffy A, Wheelock V, Tempkin T, Richman D, Seeberger L, Albin R, Chou KL, Racette B, Perlmutter JS, Perlman S, Bordelon Y, Martin W, Wieler M, Leavitt B, Raymond L, Decolongon J, Clarke L, Jankovic J, Hunter C, Hauser RA, Sanchez-Ramos J, Furtado S, Suchowersky O, Klimek ML, Guttman M, Sethna R, Feigin A, Cox M, Shannon B, Percy A, Dure L, Harrison M, Johnson W, Higgins D, Molho E, Nickerson C, Evans S, Hobson D, Singer C, Galvez-Jimenez N, Shannon K, Comella C, Ross C, Saint-Hilaire MH, Testa C, Rosenblatt A, Hogarth P, Weiner W, Como P, Kumar R, Cotto C, Stout J, Brocht A, Watts A, Eberly S, Weaver C, Foroud T, Gusella J, MacDonald M, Myers R, Fahn S, Shults C
published in: JAMA neurology
information resource reference: Clinical-Genetic Associations in the Prospective Huntington at Risk Observational Study (PHAROS): Implications for Clinical Trials. JAMA Neurol. 2016 Jan; 73(1):102-10.
journal title abbreviation: JAMA Neurol
publication date: 2016-01-01T00:00:00
year: 2016
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 60863
type: Authorship
author rank in publication: 1
linked author: Gusella, James
linked information resource: Neurofibromatosis 2: loss of merlin's protective spell.

Authorship 867570
type: Authorship
author rank in publication: 14
linked author: Gusella, James
linked information resource: Engineering microdeletions and microduplications by targeting segmental duplications with CRISPR.

Authorship 867121
type: Authorship
author rank in publication: 8
linked author: Gusella, James
linked information resource: Metabolic disruption identified in the Huntington's disease transgenic sheep model.

Authorship 868265
type: Authorship
author rank in publication: 13
linked author: Gusella, James
linked information resource: The HTT CAG-Expansion Mutation Determines Age at Death but Not Disease Duration in Huntington Disease.

The HTT CAG-Expansion Mutation Determines Age at Death but Not Disease Duration in Huntington Disease.
PubMed Identifier: 26849111
author list: Keum JW, Shin A, Gillis T, Mysore JS, Abu Elneel K, Lucente D, Hadzi T, Holmans P, Jones L, Orth M, Kwak S, MacDonald ME, Gusella JF, Lee JM
published in: American journal of human genetics
information resource reference: The HTT CAG-Expansion Mutation Determines Age at Death but Not Disease Duration in Huntington Disease. Am J Hum Genet. 2016 Feb 04; 98(2):287-98.
journal title abbreviation: Am J Hum Genet
publication date: 2016-02-04T00:00:00
year: 2016
type: Academic Article
type: Article
type: Document
type: Information Resource

Metabolic disruption identified in the Huntington's disease transgenic sheep model.
PubMed Identifier: 26864449
author list: Handley RR, Reid SJ, Patassini S, Rudiger SR, Obolonkin V, McLaughlan CJ, Jacobsen JC, Gusella JF, MacDonald ME, Waldvogel HJ, Bawden CS, Faull RL, Snell RG
published in: Scientific reports
information resource reference: Metabolic disruption identified in the Huntington's disease transgenic sheep model. Sci Rep. 2016 Feb 11; 6:20681.
journal title abbreviation: Sci Rep
publication date: 2016-02-11T00:00:00
year: 2016
type: Academic Article
type: Article
type: Document
type: Information Resource

Engineering microdeletions and microduplications by targeting segmental duplications with CRISPR.
PubMed Identifier: 26829649
author list: Tai DJ, Ragavendran A, Manavalan P, Stortchevoi A, Seabra CM, Erdin S, Collins RL, Blumenthal I, Chen X, Shen Y, Sahin M, Zhang C, Lee C, Gusella JF, Talkowski ME
published in: Nature neuroscience
information resource reference: Engineering microdeletions and microduplications by targeting segmental duplications with CRISPR. Nat Neurosci. 2016 Mar; 19(3):517-22.
journal title abbreviation: Nat Neurosci
publication date: 2016-02-01T00:00:00
year: 2016
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 7279
type: Authorship
author rank in publication: 2
linked author: Gusella, James
linked information resource: Huntingtons disease: linkage with G8 on chromosome 4 and its consequences.

Authorship 87485
type: Authorship
author rank in publication: 1
linked author: Gusella, James
linked information resource: Isolation and localization of DNA segments from specific human chromosomes.

Authorship 301506
type: Authorship
author rank in publication: 4
linked author: Gusella, James
linked information resource: A dinucleotide repeat polymorphism at the D4S127 locus.

Authorship 872015
type: Authorship
author rank in publication: 9
linked author: Gusella, James
linked information resource: Actin capping protein CAPZB regulates cell morphology, differentiation, and neural crest migration in craniofacial morphogenesis†.

Actin capping protein CAPZB regulates cell morphology, differentiation, and neural crest migration in craniofacial morphogenesis†.
PubMed Identifier: 26758871
author list: Mukherjee K, Ishii K, Pillalamarri V, Kammin T, Atkin JF, Hickey SE, Xi QJ, Zepeda CJ, Gusella JF, Talkowski ME, Morton CC, Maas RL, Liao EC
published in: Human molecular genetics
information resource reference: Actin capping protein CAPZB regulates cell morphology, differentiation, and neural crest migration in craniofacial morphogenesis†. Hum Mol Genet. 2016 Apr 01; 25(7):1255-70.
journal title abbreviation: Hum Mol Genet
publication date: 2016-01-11T00:00:00
year: 2016
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 185141
type: Authorship
author rank in publication: 2
linked author: Gusella, James
linked information resource: Familial dysautonomia.

Authorship 876010
type: Authorship
author rank in publication: 23
linked author: Gusella, James
linked information resource: Mutated Huntingtin Causes Testicular Pathology in Transgenic Minipig Boars.

Mutated Huntingtin Causes Testicular Pathology in Transgenic Minipig Boars.
PubMed Identifier: 26959244
author list: Macakova M, Bohuslavova B, Vochozkova P, Pavlok A, Sedlackova M, Vidinska D, Vochyanova K, Liskova I, Valekova I, Baxa M, Ellederova Z, Klima J, Juhas S, Juhasova J, Klouckova J, Haluzik M, Klempir J, Hansikova H, Spacilova J, Collins R, Blumenthal I, Talkowski M, Gusella JF, Howland DS, DiFiglia M, Motlik J
published in: Neuro-degenerative diseases
information resource reference: Mutated Huntingtin Causes Testicular Pathology in Transgenic Minipig Boars. Neurodegener Dis. 2016; 16(3-4):245-59.
journal title abbreviation: Neurodegener Dis
publication date: 2016-03-10T00:00:00
year: 2016
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 876248
type: Authorship
author rank in publication: 13
linked author: Gusella, James
linked information resource: A New Subtype of Multiple Synostoses Syndrome Is Caused by a Mutation in GDF6 That Decreases Its Sensitivity to Noggin and Enhances Its Potency as a BMP Signal.

A New Subtype of Multiple Synostoses Syndrome Is Caused by a Mutation in GDF6 That Decreases Its Sensitivity to Noggin and Enhances Its Potency as a BMP Signal.
PubMed Identifier: 26643732
author list: Wang J, Yu T, Wang Z, Ohte S, Yao RE, Zheng Z, Geng J, Cai H, Ge Y, Li Y, Xu Y, Zhang Q, Gusella JF, Fu Q, Pregizer S, Rosen V, Shen Y
published in: Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research
information resource reference: A New Subtype of Multiple Synostoses Syndrome Is Caused by a Mutation in GDF6 That Decreases Its Sensitivity to Noggin and Enhances Its Potency as a BMP Signal. J Bone Miner Res. 2016 Apr; 31(4):882-9.
journal title abbreviation: J Bone Miner Res
publication date: 2015-12-28T00:00:00
year: 2015
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 42151
type: Authorship
author rank in publication: 4
linked author: Gusella, James
linked information resource: Apolipoprotein E4 allele and Alzheimer disease: examination of allelic association and effect on age at onset in both early- and late-onset cases.

Authorship 425407
type: Authorship
author rank in publication: 2
linked author: Gusella, James
linked information resource: A region of deletion on chromosome 22q13 is common to human breast and colorectal cancers.

Authorship 481377
type: Authorship
author rank in publication: 8
linked author: Gusella, James
linked information resource: Mapping of the mucolipidosis type IV gene to chromosome 19p and definition of founder haplotypes.

Authorship 487820
type: Authorship
author rank in publication: 2
linked author: Gusella, James
linked information resource: Dinucleotide repeat polymorphism at the D9S112 locus (9q31-34).

Authorship 507616
type: Authorship
author rank in publication: 8
linked author: Gusella, James
linked information resource: Isolation of polymorphic DNA segments from human chromosome 21.

Authorship 881037
type: Authorship
author rank in publication: 3
linked author: Gusella, James
linked information resource: Huntington disease.

Huntington disease.
PubMed Identifier: 27188817
author list: Bates GP, Dorsey R, Gusella JF, Hayden MR, Kay C, Leavitt BR, Nance M, Ross CA, Scahill RI, Wetzel R, Wild EJ, Tabrizi SJ
published in: Nature reviews. Disease primers
information resource reference: Huntington disease. Nat Rev Dis Primers. 2015 04 23; 1:15005.
journal title abbreviation: Nat Rev Dis Primers
publication date: 2015-04-23T00:00:00
year: 2015
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 547124
type: Authorship
author rank in publication: 3
linked author: Gusella, James
linked information resource: Characterization and expression of the human A2a adenosine receptor gene.

Authorship 884347
type: Authorship
author rank in publication: 12
linked author: Gusella, James
linked information resource: CSF1R mosaicism in a family with hereditary diffuse leukoencephalopathy with spheroids.

CSF1R mosaicism in a family with hereditary diffuse leukoencephalopathy with spheroids.
PubMed Identifier: 27190017
author list: Eichler FS, Li J, Guo Y, Caruso PA, Bjonnes AC, Pan J, Booker JK, Lane JM, Tare A, Vlasac I, Hakonarson H, Gusella JF, Zhang J, Keating BJ, Saxena R
published in: Brain : a journal of neurology
information resource reference: CSF1R mosaicism in a family with hereditary diffuse leukoencephalopathy with spheroids. Brain. 2016 06; 139(Pt 6):1666-72.
journal title abbreviation: Brain
publication date: 2016-05-05T00:00:00
year: 2016
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 555353
type: Authorship
author rank in publication: 6
linked author: Gusella, James
linked information resource: Synteny conservation of the Huntington's disease gene and surrounding loci on mouse Chromosome 5.

Authorship 550497
type: Authorship
author rank in publication: 9
linked author: Gusella, James
linked information resource: Linkage of G8 (D4S10) in two Swedish families with Huntington's disease.

Full Professor
sort order: 0
type: Faculty Rank

Instructor
sort order: 4
type: Faculty Rank

Other Faculty
sort order: 5
type: Faculty Rank

Authorship 73002
type: Authorship
author rank in publication: 4
linked author: Gusella, James
linked information resource: Sequence analysis and mapping of a novel human mitochondrial ATP synthase subunit 9 cDNA (ATP5G3).

Authorship 80520
type: Authorship
author rank in publication: 7
linked author: Gusella, James
linked information resource: Genetic linkage analysis of familial amyotrophic lateral sclerosis using human chromosome 21 microsatellite DNA markers.

Authorship 82295
type: Authorship
author rank in publication: 12
linked author: Gusella, James
linked information resource: Huntingtin facilitates polycomb repressive complex 2.

Authorship 85487
type: Authorship
author rank in publication: 6
linked author: Gusella, James
linked information resource: Exon scanning for mutations of the NF2 gene in pediatric ependymomas, rhabdoid tumors and meningiomas.

Authorship 91520
type: Authorship
author rank in publication: 5
linked author: Gusella, James
linked information resource: Huntingtin interacts with a family of WW domain proteins.

Authorship 566243
type: Authorship
author rank in publication: 9
linked author: Gusella, James
linked information resource: Mutations in transcript isoforms of the neurofibromatosis 2 gene in multiple human tumour types.

Authorship 486962
type: Authorship
author rank in publication: 8
linked author: Gusella, James
linked information resource: Defined physical limits of the Huntington disease gene candidate region.

Estrogen-related receptor gamma implicated in a phenotype including hearing loss and mild developmental delay.
PubMed Identifier: 27381092
author list: Schilit SL, Currall BB, Yao R, Hanscom C, Collins RL, Pillalamarri V, Lee DY, Kammin T, Zepeda-Mendoza CJ, Mononen T, Nolan LS, Gusella JF, Talkowski ME, Shen J, Morton CC
published in: European journal of human genetics : EJHG
information resource reference: Estrogen-related receptor gamma implicated in a phenotype including hearing loss and mild developmental delay. Eur J Hum Genet. 2016 11; 24(11):1622-1626.
journal title abbreviation: Eur J Hum Genet
publication date: 2016-07-06T00:00:00
year: 2016
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 83909
type: Authorship
author rank in publication: 4
linked author: Gusella, James
linked information resource: The direct screening of cosmid libraries with YAC clones.

Authorship 97942
type: Authorship
author rank in publication: 4
linked author: Gusella, James
linked information resource: A complete genomic screen for multiple sclerosis underscores a role for the major histocompatability complex. The Multiple Sclerosis Genetics Group.

Authorship 51950
type: Authorship
author rank in publication: 3
linked author: Gusella, James
linked information resource: Dinucleotide repeat polymorphism at the topoisomerase (DNA) I pseudogene 2 (TOPIP2).

Authorship 575711
type: Authorship
author rank in publication: 5
linked author: Gusella, James
linked information resource: Investigation of gyrate atrophy using a cDNA clone for human ornithine aminotransferase.

Authorship 896485
type: Authorship
author rank in publication: 22
linked author: Gusella, James
linked information resource: Large-scale phenome analysis defines a behavioral signature for Huntington's disease genotype in mice.

Large-scale phenome analysis defines a behavioral signature for Huntington's disease genotype in mice.
PubMed Identifier: 27376585
author list: Alexandrov V, Brunner D, Menalled LB, Kudwa A, Watson-Johnson J, Mazzella M, Russell I, Ruiz MC, Torello J, Sabath E, Sanchez A, Gomez M, Filipov I, Cox K, Kwan M, Ghavami A, Ramboz S, Lager B, Wheeler VC, Aaronson J, Rosinski J, Gusella JF, MacDonald ME, Howland D, Kwak S
published in: Nature biotechnology
information resource reference: Large-scale phenome analysis defines a behavioral signature for Huntington's disease genotype in mice. Nat Biotechnol. 2016 08; 34(8):838-44.
journal title abbreviation: Nat Biotechnol
publication date: 2016-07-04T00:00:00
year: 2016
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 77607
type: Authorship
author rank in publication: 4
linked author: Gusella, James
linked information resource: Further characterization of PstI RFLPs at the acid alpha glucosidase (GAA) locus.

Authorship 481178
type: Authorship
author rank in publication: 6
linked author: Gusella, James
linked information resource: Complete human NF1 cDNA sequence: two alternatively spliced mRNAs and absence of expression in a neuroblastoma line.

Authorship 507660
type: Authorship
author rank in publication: 4
linked author: Gusella, James
linked information resource: The Nf2 tumor suppressor gene product is essential for extraembryonic development immediately prior to gastrulation.

Authorship 518216
type: Authorship
author rank in publication: 8
linked author: Gusella, James
linked information resource: MTS1/CDKN2 gene mutations are rare in primary human astrocytomas with allelic loss of chromosome 9p.

Project 3 Function of Kindlin-3 in blood and endothelial cells
end date: 2020-05-31
principal investigator name: BYZOVA, TATIANA V
start date: 2001-12-01
type: Grant
sponsor award id: P01-11A1

Molecular Genetics of Inherited Neurological Diseases
end date: 2013-10-30
principal investigator name: BREAKEFIELD, XANDRA OWENS
start date: 1987-01-23
type: Grant
sponsor award id: P01NS024279

ORDERED OVERLAPPING COSMID CLONES--CHROMOSOME 21/22
end date: 1994-06-30
principal investigator name: GUSELLA, JAMES F
start date: 1989-07-01
type: Grant
sponsor award id: R01GM042359

Molecular Etiology of Early Onset Torsion Dystonia
end date: 2009-05-31
principal investigator name: BREAKEFIELD, XANDRA OWENS
start date: 1999-01-15
type: Grant
sponsor award id: P01NS037409

HUNTINGTONS DISEASE CENTER WITHOUT WALLS
end date: 2000-06-30
principal investigator name: GUSELLA, JAMES F
start date: 1980-07-01
type: Grant
sponsor award id: P01NS016367

REFERENCE PEDIGREES FOR HUMAN GENETIC LINKAGE ANALYSIS
end date: 1990-06-30
principal investigator name: GUSELLA, JAMES F
start date: 1983-07-01
type: Grant
sponsor award id: R01NS020012

Huntington's Disease Center Without Walls
end date: 2012-03-31
principal investigator name: GUSELLA, JAMES F
start date: 1980-07-01
type: Grant
sponsor award id: P50NS016367

Dissecting recurrent microdeletion syndromes using dual-guide genome editing
end date: 2021-04-30
principal investigator name: GUSELLA, JAMES F
start date: 2015-07-01
type: Grant
sponsor award id: R01NS093200

DGAP: Developmental Genome Anatomy Project
end date: 2021-03-31
principal investigator name: MORTON, CYNTHIA CASSON
start date: 2000-04-01
type: Grant
sponsor award id: P01GM061354

EXTRACTING GENES FROM CLONED SEQUENCE DNA
end date: 1998-06-30
principal investigator name: GUSELLA, JAMES F
start date: 1990-06-15
type: Grant
sponsor award id: R01HG000169

Molecular etiology of early onset torsion dystonia
end date: 2015-03-31
principal investigator name: BREAKEFIELD, XANDRA OWENS
start date: 2000-01-01
type: Grant
sponsor award id: P50NS037409

Genetic modifiers of Predict-HD phenotypes
end date: 2017-02-28
principal investigator name: GUSELLA, JAMES F
start date: 2013-09-01
type: Grant
sponsor award id: U01NS082079

Massachusetts Alzheimer's Disease Research Center
end date: 2019-03-31
principal investigator name: HYMAN, BRADLEY T.
start date: 1984-09-28
type: Grant
sponsor award id: P50AG005134

ORDERED OVERLAPPING COSMID CLONES--CHROMOSOME 21/22
end date: 1994-06-30
principal investigator name: GUSELLA, JAMES F
start date: 1989-07-01
type: Grant
sponsor award id: R01HG000317

Mechanism of Familial Dysautonomia
end date: 2016-04-30
principal investigator name: SLAUGENHAUPT, SUSAN A
start date: 1997-04-15
type: Grant
sponsor award id: R01NS036326

Genes disrupted by balanced genomic rearrangements in autism spectrum disorders
end date: 2012-08-31
principal investigator name: GUSELLA, JAMES F
start date: 2009-09-30
type: Grant
sponsor award id: R21HD065286

Disease-Modifying Genes in Huntington's Disease
end date: 2031-03-31
principal investigator name: GUSELLA, JAMES F
start date: 2015-04-01
type: Grant
sponsor award id: R01NS091161

Informatics for Integrating Biology &the Bedside (i2b2)
end date: 2014-09-14
principal investigator name: KOHANE, ISAAC S.
start date: 2004-09-15
type: Grant
sponsor award id: U54LM008748

Toward a molecular classification of human gliomas
end date: 2014-02-28
principal investigator name: LOUIS, DAVID N
start date: 1992-08-01
type: Grant
sponsor award id: R01CA057683

GENETIC AND MOLECULAR STUDIES OF NEUROFIBROMATOSIS 1
end date: 2001-01-31
principal investigator name: GUSELLA, JAMES F
start date: 1985-04-01
type: Grant
sponsor award id: R01NS022224

The Huntington's Disease iPS Consortium
end date: 2012-08-31
principal investigator name: THOMPSON, LESLIE MICHELS
start date: 2009-09-30
type: Grant
sponsor award id: RC2NS069422

Principal Investigator
type: Researcher Role
researcher role of: Gusella, James
contributes to: Huntington's Disease Center Without Walls

Co-Principal Investigator
type: Researcher Role
researcher role of: Gusella, James
contributes to: Informatics for Integrating Biology &the Bedside (i2b2)

Principal Investigator
type: Researcher Role
researcher role of: Gusella, James
contributes to: Genes disrupted by balanced genomic rearrangements in autism spectrum disorders

Co-Principal Investigator
type: Researcher Role
researcher role of: Gusella, James
contributes to: Mechanism of Familial Dysautonomia

Co-Principal Investigator
type: Researcher Role
researcher role of: Gusella, James
contributes to: DGAP: Developmental Genome Anatomy Project

Principal Investigator
type: Researcher Role
researcher role of: Gusella, James
contributes to: ORDERED OVERLAPPING COSMID CLONES--CHROMOSOME 21/22

Principal Investigator
type: Researcher Role
researcher role of: Gusella, James
contributes to: REFERENCE PEDIGREES FOR HUMAN GENETIC LINKAGE ANALYSIS

Principal Investigator
type: Researcher Role
researcher role of: Gusella, James
contributes to: ORDERED OVERLAPPING COSMID CLONES--CHROMOSOME 21/22

Co-Principal Investigator
type: Researcher Role
researcher role of: Gusella, James
contributes to: Molecular Genetics of Inherited Neurological Diseases

Co-Principal Investigator
type: Researcher Role
researcher role of: Gusella, James
contributes to: Molecular Etiology of Early Onset Torsion Dystonia

Co-Principal Investigator
type: Researcher Role
researcher role of: Gusella, James
contributes to: Toward a molecular classification of human gliomas

Co-Principal Investigator
type: Researcher Role
researcher role of: Gusella, James
contributes to: The Huntington's Disease iPS Consortium

Co-Principal Investigator
type: Researcher Role
researcher role of: Gusella, James
contributes to: Molecular etiology of early onset torsion dystonia

Principal Investigator
type: Researcher Role
researcher role of: Gusella, James
contributes to: Disease-Modifying Genes in Huntington's Disease

Co-Principal Investigator
type: Researcher Role
researcher role of: Gusella, James
contributes to: Massachusetts Alzheimer's Disease Research Center

Principal Investigator
type: Researcher Role
researcher role of: Gusella, James
contributes to: GENETIC AND MOLECULAR STUDIES OF NEUROFIBROMATOSIS 1

Co-Principal Investigator
type: Researcher Role
researcher role of: Gusella, James
contributes to: Project 3 Function of Kindlin-3 in blood and endothelial cells

Principal Investigator
type: Researcher Role
researcher role of: Gusella, James
contributes to: EXTRACTING GENES FROM CLONED SEQUENCE DNA

Principal Investigator
type: Researcher Role
researcher role of: Gusella, James
contributes to: Genetic modifiers of Predict-HD phenotypes

Principal Investigator
type: Researcher Role
researcher role of: Gusella, James
contributes to: Dissecting recurrent microdeletion syndromes using dual-guide genome editing

Principal Investigator
type: Researcher Role
researcher role of: Gusella, James
contributes to: HUNTINGTONS DISEASE CENTER WITHOUT WALLS

Authorship 76426
type: Authorship
author rank in publication: 18
linked author: Gusella, James
linked information resource: Tissue-specific expression of a splicing mutation in the IKBKAP gene causes familial dysautonomia.

Authorship 85146
type: Authorship
author rank in publication: 6
linked author: Gusella, James
linked information resource: Lack of association of rare functional variants in TSC1/TSC2 genes with autism spectrum disorder.

Authorship 87004
type: Authorship
author rank in publication: 5
linked author: Gusella, James
linked information resource: A genetic linkage map of human chromosome 21: analysis of recombination as a function of sex and age.

Authorship 62178
type: Authorship
author rank in publication: 1
linked author: Gusella, James
linked information resource: A molecular genetic approach to Huntington's disease.

Authorship 86177
type: Authorship
author rank in publication: 1
linked author: Gusella, James
linked information resource: Recombinant DNA techniques in the diagnosis of inherited disorders.

Authorship 89591
type: Authorship
author rank in publication: 7
linked author: Gusella, James
linked information resource: Equal parental origin of chromosome 22 losses in human sporadic meningioma: no evidence for genomic imprinting.

Authorship 334667
type: Authorship
author rank in publication: 1
linked author: Gusella, James
linked information resource: Genetic criteria for Huntington's disease pathogenesis.

Authorship 355890
type: Authorship
author rank in publication: 7
linked author: Gusella, James
linked information resource: Linkage, but not gene order, of homologous loci, including alpha-L-iduronidase (Idua), is conserved in the Huntington disease region of the mouse and human genomes.

Authorship 387362
type: Authorship
author rank in publication: 1
linked author: Gusella, James
linked information resource: Induction of erythroid differentiation in vitro by purines and purine analogues.

Authorship 400542
type: Authorship
author rank in publication: 7
linked author: Gusella, James
linked information resource: DNA sequence and regional assignment of the human follicle-stimulating hormone beta-subunit gene to the short arm of human chromosome 11.

Authorship 920683
type: Authorship
author rank in publication: 26
linked author: Gusella, James
linked information resource: Implication of LRRC4C and DPP6 in neurodevelopmental disorders.

Authorship 923883
type: Authorship
author rank in publication: 12
linked author: Gusella, James
linked information resource: Estrogen-related receptor gamma implicated in a phenotype including hearing loss and mild developmental delay.

Authorship 928814
type: Authorship
author rank in publication: 6
linked author: Gusella, James
linked information resource: Assessing Population Level Genetic Instability via Moving Average.

Authorship 926823
type: Authorship
author rank in publication: 26
linked author: Gusella, James
linked information resource: Structural Chromosomal Rearrangements Require Nucleotide-Level Resolution: Lessons from Next-Generation Sequencing in Prenatal Diagnosis.

Implication of LRRC4C and DPP6 in neurodevelopmental disorders.
PubMed Identifier: 27759917
author list: Maussion G, Cruceanu C, Rosenfeld JA, Bell SC, Jollant F, Szatkiewicz J, Collins RL, Hanscom C, Kolobova I, de Champfleur NM, Blumenthal I, Chiang C, Ota V, Hultman C, O'Dushlaine C, McCarroll S, Alda M, Jacquemont S, Ordulu Z, Marshall CR, Carter MT, Shaffer LG, Sklar P, Girirajan S, Morton CC, Gusella JF, Turecki G, Stavropoulos DJ, Sullivan PF, Scherer SW, Talkowski ME, Ernst C
published in: American journal of medical genetics. Part A
information resource reference: Implication of LRRC4C and DPP6 in neurodevelopmental disorders. Am J Med Genet A. 2017 Feb; 173(2):395-406.
journal title abbreviation: Am J Med Genet A
publication date: 2016-10-19T00:00:00
year: 2016
type: Academic Article
type: Article
type: Document
type: Information Resource

Structural Chromosomal Rearrangements Require Nucleotide-Level Resolution: Lessons from Next-Generation Sequencing in Prenatal Diagnosis.
PubMed Identifier: 27745839
author list: Ordulu Z, Kammin T, Brand H, Pillalamarri V, Redin CE, Collins RL, Blumenthal I, Hanscom C, Pereira S, Bradley I, Crandall BF, Gerrol P, Hayden MA, Hussain N, Kanengisser-Pines B, Kantarci S, Levy B, Macera MJ, Quintero-Rivera F, Spiegel E, Stevens B, Ulm JE, Warburton D, Wilkins-Haug LE, Yachelevich N, Gusella JF, Talkowski ME, Morton CC
published in: American journal of human genetics
information resource reference: Structural Chromosomal Rearrangements Require Nucleotide-Level Resolution: Lessons from Next-Generation Sequencing in Prenatal Diagnosis. Am J Hum Genet. 2016 Nov 03; 99(5):1015-1033.
journal title abbreviation: Am J Hum Genet
publication date: 2016-10-13T00:00:00
year: 2016
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 41723
type: Authorship
author rank in publication: 1
linked author: Gusella, James
linked information resource: Huntington's disease.

Authorship 449375
type: Authorship
author rank in publication: 28
linked author: Gusella, James
linked information resource: Highly penetrant alterations of a critical region including BDNF in human psychopathology and obesity.

The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies.
PubMed Identifier: 27841880
author list: Redin C, Brand H, Collins RL, Kammin T, Mitchell E, Hodge JC, Hanscom C, Pillalamarri V, Seabra CM, Abbott MA, Abdul-Rahman OA, Aberg E, Adley R, Alcaraz-Estrada SL, Alkuraya FS, An Y, Anderson MA, Antolik C, Anyane-Yeboa K, Atkin JF, Bartell T, Bernstein JA, Beyer E, Blumenthal I, Bongers EM, Brilstra EH, Brown CW, Brüggenwirth HT, Callewaert B, Chiang C, Corning K, Cox H, Cuppen E, Currall BB, Cushing T, David D, Deardorff MA, Dheedene A, D'Hooghe M, de Vries BB, Earl DL, Ferguson HL, Fisher H, FitzPatrick DR, Gerrol P, Giachino D, Glessner JT, Gliem T, Grady M, Graham BH, Griffis C, Gripp KW, Gropman AL, Hanson-Kahn A, Harris DJ, Hayden MA, Hill R, Hochstenbach R, Hoffman JD, Hopkin RJ, Hubshman MW, Innes AM, Irons M, Irving M, Jacobsen JC, Janssens S, Jewett T, Johnson JP, Jongmans MC, Kahler SG, Koolen DA, Korzelius J, Kroisel PM, Lacassie Y, Lawless W, Lemyre E, Leppig K, Levin AV, Li H, Li H, Liao EC, Lim C, Lose EJ, Lucente D, Macera MJ, Manavalan P, Mandrile G, Marcelis CL, Margolin L, Mason T, Masser-Frye D, McClellan MW, Mendoza CJ, Menten B, Middelkamp S, Mikami LR, Moe E, Mohammed S, Mononen T, Mortenson ME, Moya G, Nieuwint AW, Ordulu Z, Parkash S, Pauker SP, Pereira S, Perrin D, Phelan K, Aguilar RE, Poddighe PJ, Pregno G, Raskin S, Reis L, Rhead W, Rita D, Renkens I, Roelens F, Ruliera J, Rump P, Schilit SL, Shaheen R, Sparkes R, Spiegel E, Stevens B, Stone MR, Tagoe J, Thakuria JV, van Bon BW, van de Kamp J, van Der Burgt I, van Essen T, van Ravenswaaij-Arts CM, van Roosmalen MJ, Vergult S, Volker-Touw CM, Warburton DP, Waterman MJ, Wiley S, Wilson A, Yerena-de Vega MC, Zori RT, Levy B, Brunner HG, de Leeuw N, Kloosterman WP, Thorland EC, Morton CC, Gusella JF, Talkowski ME
published in: Nature genetics
information resource reference: The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies. Nat Genet. 2017 01; 49(1):36-45.
journal title abbreviation: Nat Genet
publication date: 2016-11-14T00:00:00
year: 2016
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 491848
type: Authorship
author rank in publication: 6
linked author: Gusella, James
linked information resource: Heterogeneous topographic and cellular distribution of huntingtin expression in the normal human neostriatum.

Authorship 508755
type: Authorship
author rank in publication: 7
linked author: Gusella, James
linked information resource: Generation and characterization of irradiation hybrids of human chromosome 4.

Authorship 509469
type: Authorship
author rank in publication: 10
linked author: Gusella, James
linked information resource: A recombination event that redefines the Huntington disease region.

Authorship 536617
type: Authorship
author rank in publication: 5
linked author: Gusella, James
linked information resource: An index marker map of chromosome 9 provides strong evidence for positive interference.

Authorship 542591
type: Authorship
author rank in publication: 46
linked author: Gusella, James
linked information resource: Replication of association between ELAVL4 and Parkinson disease: the GenePD study.

Authorship 543767
type: Authorship
author rank in publication: 8
linked author: Gusella, James
linked information resource: Characterization of an unusual and complex chromosome 21 rearrangement using somatic cell genetics and cloned DNA probes.

Authorship 544548
type: Authorship
author rank in publication: 1
linked author: Gusella, James
linked information resource: Report of the committee on the genetic constitution of chromosomes 3 and 4.

Authorship 559480
type: Authorship
author rank in publication: 34
linked author: Gusella, James
linked information resource: X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment.

Authorship 568083
type: Authorship
author rank in publication: 7
linked author: Gusella, James
linked information resource: Chromosome 21 genetic linkage data set based on the Venezuelan reference pedigree.

Authorship 575400
type: Authorship
author rank in publication: 9
linked author: Gusella, James
linked information resource: No genetic effect of alpha1-antichymotrypsin in Alzheimer disease.

Authorship 929519
type: Authorship
author rank in publication: 6
linked author: Gusella, James
linked information resource: A novel neurodevelopmental disorder associated with compound heterozygous variants in the huntingtin gene.

Authorship 936133
type: Authorship
author rank in publication: 6
linked author: Gusella, James
linked information resource: A novel neurodevelopmental disorder associated with compound heterozygous variants in the huntingtin gene.

Authorship 936166
type: Authorship
author rank in publication: 148
linked author: Gusella, James
linked information resource: The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies.

A novel neurodevelopmental disorder associated with compound heterozygous variants in the huntingtin gene.
PubMed Identifier: 27329733
author list: Rodan LH, Cohen J, Fatemi A, Gillis T, Lucente D, Gusella J, Picker JD
published in: European journal of human genetics : EJHG
information resource reference: A novel neurodevelopmental disorder associated with compound heterozygous variants in the huntingtin gene. Eur J Hum Genet. 2016 12; 24(12):1826-1827.
journal title abbreviation: Eur J Hum Genet
publication date: 2016-06-22T00:00:00
year: 2016
type: Academic Article
type: Article
type: Document
type: Information Resource

A novel neurodevelopmental disorder associated with compound heterozygous variants in the huntingtin gene.
PubMed Identifier: 27834362
author list: Rodan LH, Cohen J, Fatemi A, Gillis T, Lucente D, Gusella J, Picker JD
published in: European journal of human genetics : EJHG
information resource reference: A novel neurodevelopmental disorder associated with compound heterozygous variants in the huntingtin gene. Eur J Hum Genet. 2016 12; 24(12):1833.
journal title abbreviation: Eur J Hum Genet
publication date: 2016-12-01T00:00:00
year: 2016
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 70962
type: Authorship
author rank in publication: 13
linked author: Gusella, James
linked information resource: Advances in neurofibromatosis 2 (NF2): a workshop report.

Authorship 82537
type: Authorship
author rank in publication: 6
linked author: Gusella, James
linked information resource: Dinucleotide repeat polymorphism in the Huntington's disease region at the D4S182 locus.

Authorship 8361
type: Authorship
author rank in publication: 6
linked author: Gusella, James
linked information resource: Regional assignment of six polymorphic DNA sequences on chromosome 21 by in situ hybridization to normal and rearranged chromosomes.

Authorship 87155
type: Authorship
author rank in publication: 14
linked author: Gusella, James
linked information resource: The gene (DYT1) for early-onset torsion dystonia encodes a novel protein related to the Clp protease/heat shock family.

Authorship 210805
type: Authorship
author rank in publication: 1
linked author: Gusella, James
linked information resource: Merlin: the neurofibromatosis 2 tumor suppressor.

Authorship 263650
type: Authorship
author rank in publication: 10
linked author: Gusella, James
linked information resource: A new DNA marker (D4S90) is located terminally on the short arm of chromosome 4, close to the Huntington disease gene.

Authorship 282335
type: Authorship
author rank in publication: 8
linked author: Gusella, James
linked information resource: A linkage study with DNA markers (D4S95, D4S115, and D4S111) in Japanese Huntington disease families.

Authorship 326450
type: Authorship
author rank in publication: 7
linked author: Gusella, James
linked information resource: NHE-RF, a regulatory cofactor for Na(+)-H+ exchange, is a common interactor for merlin and ERM (MERM) proteins.

Authorship 326904
type: Authorship
author rank in publication: 4
linked author: Gusella, James
linked information resource: Identification of a mouse brain cDNA that encodes a protein related to the Alzheimer disease-associated amyloid beta protein precursor.

Authorship 939766
type: Authorship
author rank in publication: 16
linked author: Gusella, James
linked information resource: Rare Deleterious PARD3 Variants in the aPKC-Binding Region are Implicated in the Pathogenesis of Human Cranial Neural Tube Defects Via Disrupting Apical Tight Junction Formation.

Rare Deleterious PARD3 Variants in the aPKC-Binding Region are Implicated in the Pathogenesis of Human Cranial Neural Tube Defects Via Disrupting Apical Tight Junction Formation.
PubMed Identifier: 27925688
author list: Chen X, An Y, Gao Y, Guo L, Rui L, Xie H, Sun M, Lam Hung S, Sheng X, Zou J, Bao Y, Guan H, Niu B, Li Z, Finnell RH, Gusella JF, Wu BL, Zhang T
published in: Human mutation
information resource reference: Rare Deleterious PARD3 Variants in the aPKC-Binding Region are Implicated in the Pathogenesis of Human Cranial Neural Tube Defects Via Disrupting Apical Tight Junction Formation. Hum Mutat. 2017 04; 38(4):378-389.
journal title abbreviation: Hum Mutat
publication date: 2017-02-15T00:00:00
year: 2017
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 350777
type: Authorship
author rank in publication: 1
linked author: Gusella, James
linked information resource: DNA markers for nervous system diseases.

Authorship 40449
type: Authorship
author rank in publication: 8
linked author: Gusella, James
linked information resource: Radiation hybrid map spanning the Huntington disease gene region of chromosome 4.

Authorship 41542
type: Authorship
author rank in publication: 9
linked author: Gusella, James
linked information resource: Brain-derived neurotrophic factor does not influence age at neurologic onset of Huntington's disease.

Authorship 424147
type: Authorship
author rank in publication: 34
linked author: Gusella, James
linked information resource: Common SNP-based haplotype analysis of the 4p16.3 Huntington disease gene region.

Authorship 438038
type: Authorship
author rank in publication: 9
linked author: Gusella, James
linked information resource: Tissue-specific reduction in splicing efficiency of IKBKAP due to the major mutation associated with familial dysautonomia.

Authorship 948872
type: Authorship
author rank in publication: 69
linked author: Gusella, James
linked information resource: SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome.

SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome.
PubMed Identifier: 28067909
author list: Shaw ND, Brand H, Kupchinsky ZA, Bengani H, Plummer L, Jones TI, Erdin S, Williamson KA, Rainger J, Stortchevoi A, Samocha K, Currall BB, Dunican DS, Collins RL, Willer JR, Lek A, Lek M, Nassan M, Pereira S, Kammin T, Lucente D, Silva A, Seabra CM, Chiang C, An Y, Ansari M, Rainger JK, Joss S, Smith JC, Lippincott MF, Singh SS, Patel N, Jing JW, Law JR, Ferraro N, Verloes A, Rauch A, Steindl K, Zweier M, Scheer I, Sato D, Okamoto N, Jacobsen C, Tryggestad J, Chernausek S, Schimmenti LA, Brasseur B, Cesaretti C, García-Ortiz JE, Buitrago TP, Silva OP, Hoffman JD, Mühlbauer W, Ruprecht KW, Loeys BL, Shino M, Kaindl AM, Cho CH, Morton CC, Meehan RR, van Heyningen V, Liao EC, Balasubramanian R, Hall JE, Seminara SB, Macarthur D, Moore SA, Yoshiura KI, Gusella JF, Marsh JA, Graham JM, Lin AE, Katsanis N, Jones PL, Crowley WF, Davis EE, FitzPatrick DR, Talkowski ME
published in: Nature genetics
information resource reference: SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome. Nat Genet. 2017 Feb; 49(2):238-248.
journal title abbreviation: Nat Genet
publication date: 2017-01-09T00:00:00
year: 2017
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 514273
type: Authorship
author rank in publication: 1
linked author: Gusella, James
linked information resource: Huntington's disease.

Authorship 951312
type: Authorship
author rank in publication: 26
linked author: Gusella, James
linked information resource: Cover Image, Volume 173A, Number 2, February 2017.

Cover Image, Volume 173A, Number 2, February 2017.
PubMed Identifier: 28102589
author list: Maussion G, Cruceanu C, Rosenfeld JA, Bell SC, Jollant F, Szatkiewicz J, Collins RL, Hanscom C, Kolobova I, de Champfleur NM, Blumenthal I, Chiang C, Ota V, Hultman C, O'Dushlaine C, McCarroll S, Alda M, Jacquemont S, Ordulu Z, Marshall CR, Carter MT, Shaffer LG, Sklar P, Girirajan S, Morton CC, Gusella JF, Turecki G, Stavropoulos DJ, Sullivan PF, Scherer SW, Talkowski ME, Ernst C
published in: American journal of medical genetics. Part A
information resource reference: Cover Image, Volume 173A, Number 2, February 2017. Am J Med Genet A. 2017 Feb; 173(2):i.
journal title abbreviation: Am J Med Genet A
publication date: 2017-02-01T00:00:00
year: 2017
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 533757
type: Authorship
author rank in publication: 2
linked author: Gusella, James
linked information resource: Huntington disease-linked restriction fragment length polymorphism localized within band p16.1 of chromosome 4 by in situ hybridization.

Authorship 543225
type: Authorship
author rank in publication: 16
linked author: Gusella, James
linked information resource: Association of a polymorphism near CREB1 with differential aversion processing in the insula of healthy participants.

Authorship 545305
type: Authorship
author rank in publication: 1
linked author: Gusella, James
linked information resource: Huntington's disease.

Authorship 570481
type: Authorship
author rank in publication: 4
linked author: Gusella, James
linked information resource: A 15-bp deletion in exon 5 of the ornithine aminotransferase (OAT) locus associated with gyrate atrophy.

Authorship 954534
type: Authorship
author rank in publication: 14
linked author: Gusella, James
linked information resource: Potential molecular consequences of transgene integration: The R6/2 mouse example.

Potential molecular consequences of transgene integration: The R6/2 mouse example.
PubMed Identifier: 28120936
author list: Jacobsen JC, Erdin S, Chiang C, Hanscom C, Handley RR, Barker DD, Stortchevoi A, Blumenthal I, Reid SJ, Snell RG, MacDonald ME, Morton AJ, Ernst C, Gusella JF, Talkowski ME
published in: Scientific reports
information resource reference: Potential molecular consequences of transgene integration: The R6/2 mouse example. Sci Rep. 2017 01 25; 7:41120.
journal title abbreviation: Sci Rep
publication date: 2017-01-25T00:00:00
year: 2017
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 956889
type: Authorship
author rank in publication: 7
linked author: Gusella, James
linked information resource: Permanent inactivation of Huntington's disease mutation by personalized allele-specific CRISPR/Cas9.

Authorship 956460
type: Authorship
author rank in publication: 13
linked author: Gusella, James
linked information resource: Novel allele-specific quantification methods reveal no effects of adult onset CAG repeats on HTT mRNA and protein levels.

Authorship 956210
type: Authorship
author rank in publication: 7
linked author: Gusella, James
linked information resource: Permanent inactivation of Huntington's disease mutation by personalized allele-specific CRISPR/Cas9.

Permanent inactivation of Huntington's disease mutation by personalized allele-specific CRISPR/Cas9.
PubMed Identifier: 28172889
author list: Shin JW, Kim KH, Chao MJ, Atwal RS, Gillis T, MacDonald ME, Gusella JF, Lee JM
published in: Human molecular genetics
information resource reference: Permanent inactivation of Huntington's disease mutation by personalized allele-specific CRISPR/Cas9. Hum Mol Genet. 2016 10 15; 25(20):4566-4576.
journal title abbreviation: Hum Mol Genet
publication date: 2016-10-15T00:00:00
year: 2016
type: Academic Article
type: Article
type: Document
type: Information Resource

Novel allele-specific quantification methods reveal no effects of adult onset CAG repeats on HTT mRNA and protein levels.
PubMed Identifier: 28165127
author list: Shin A, Shin B, Shin JW, Kim KH, Atwal RS, Hope JM, Gillis T, Leszyk JD, Shaffer SA, Lee R, Kwak S, MacDonald ME, Gusella JF, Seong IS, Lee JM
published in: Human molecular genetics
information resource reference: Novel allele-specific quantification methods reveal no effects of adult onset CAG repeats on HTT mRNA and protein levels. Hum Mol Genet. 2017 04 01; 26(7):1258-1267.
journal title abbreviation: Hum Mol Genet
publication date: 2017-04-01T00:00:00
year: 2017
type: Academic Article
type: Article
type: Document
type: Information Resource

Permanent inactivation of Huntington's disease mutation by personalized allele-specific CRISPR/Cas9.
PubMed Identifier: 27634650
author list: Shin JW, Kim KH, Chao MJ, Atwal RS, Gillis T, MacDonald ME, Gusella JF, Lee JM
published in: Human molecular genetics
information resource reference: Permanent inactivation of Huntington's disease mutation by personalized allele-specific CRISPR/Cas9. Hum Mol Genet. 2016 Sep 15.
journal title abbreviation: Hum Mol Genet
publication date: 2016-09-15T00:00:00
year: 2016
type: Academic Article
type: Article
type: Document
type: Information Resource

Germ-line mutations in the neurofibromatosis 2 gene: correlations with disease severity and retinal abnormalities.
PubMed Identifier: 8751853
author list: Parry DM, MacCollin MM, Kaiser-Kupfer MI, Pulaski K, Nicholson HS, Bolesta M, Eldridge R, Gusella JF
published in: American journal of human genetics
information resource reference: Germ-line mutations in the neurofibromatosis 2 gene: correlations with disease severity and retinal abnormalities. Am J Hum Genet. 1996 Sep; 59(3):529-39.
journal title abbreviation: Am J Hum Genet
publication date: 1996-09-01T00:00:00
year: 1996
type: Academic Article
type: Article
type: Document
type: Information Resource

Identification of a mouse brain cDNA that encodes a protein related to the Alzheimer disease-associated amyloid beta protein precursor.
PubMed Identifier: 1279693
author list: Wasco W, Bupp K, Magendantz M, Gusella JF, Tanzi RE, Solomon F
published in: Proceedings of the National Academy of Sciences of the United States of America
information resource reference: Identification of a mouse brain cDNA that encodes a protein related to the Alzheimer disease-associated amyloid beta protein precursor. Proc Natl Acad Sci U S A. 1992 Nov 15; 89(22):10758-62.
journal title abbreviation: Proc Natl Acad Sci U S A
publication date: 1992-11-15T00:00:00
year: 1992
type: Academic Article
type: Article
type: Document
type: Information Resource

A point mutation associated with a severe phenotype of neurofibromatosis 2.
PubMed Identifier: 8797533
author list: MacCollin M, Braverman N, Viskochil D, Ruttledge M, Davis K, Ojemann R, Gusella J, Parry DM
published in: Annals of neurology
information resource reference: A point mutation associated with a severe phenotype of neurofibromatosis 2. Ann Neurol. 1996 Sep; 40(3):440-5.
journal title abbreviation: Ann Neurol
publication date: 1996-09-01T00:00:00
year: 1996
type: Academic Article
type: Article
type: Document
type: Information Resource

Two independent dinucleotide repeat polymorphisms at the D21S235 locus (21q22.1).
PubMed Identifier: 1301176
author list: Donaldson DH, Rosen DR, O'Regan J, Sapp PC, Horvitz HR, Gusella JF, Haines JL, Pestka S, Jung V, Nusbaum C
published in: Human molecular genetics
information resource reference: Two independent dinucleotide repeat polymorphisms at the D21S235 locus (21q22.1). Hum Mol Genet. 1992 Nov; 1(8):651.
journal title abbreviation: Hum Mol Genet
publication date: 1992-11-01T00:00:00
year: 1992
type: Academic Article
type: Article
type: Document
type: Information Resource

A 15-bp deletion in exon 5 of the ornithine aminotransferase (OAT) locus associated with gyrate atrophy.
PubMed Identifier: 1301936
author list: Park JK, O'Donnell JJ, Shih VE, Gusella JF, Ramesh V
published in: Human mutation
information resource reference: A 15-bp deletion in exon 5 of the ornithine aminotransferase (OAT) locus associated with gyrate atrophy. Hum Mutat. 1992; 1(4):293-7.
journal title abbreviation: Hum Mutat
publication date: 1992-01-01T00:00:00
year: 1992
type: Academic Article
type: Article
type: Document
type: Information Resource

Molecular heterogeneity of late-onset forms of globoid-cell leukodystrophy.
PubMed Identifier: 8940268
author list: De Gasperi R, Gama Sosa MA, Sartorato EL, Battistini S, MacFarlane H, Gusella JF, Krivit W, Kolodny EH
published in: American journal of human genetics
information resource reference: Molecular heterogeneity of late-onset forms of globoid-cell leukodystrophy. Am J Hum Genet. 1996 Dec; 59(6):1233-42.
journal title abbreviation: Am J Hum Genet
publication date: 1996-12-01T00:00:00
year: 1996
type: Academic Article
type: Article
type: Document
type: Information Resource

Identification and characterization of two novel tetratricopeptide repeat-containing genes.
PubMed Identifier: 8836031
author list: Murthy AE, Bernards A, Church D, Wasmuth J, Gusella JF
published in: DNA and cell biology
information resource reference: Identification and characterization of two novel tetratricopeptide repeat-containing genes. DNA Cell Biol. 1996 Sep; 15(9):727-35.
journal title abbreviation: DNA Cell Biol
publication date: 1996-09-01T00:00:00
year: 1996
type: Academic Article
type: Article
type: Document
type: Information Resource

Frequency and distribution of NF2 mutations in schwannomas.
PubMed Identifier: 8889506
author list: Jacoby LB, MacCollin M, Barone R, Ramesh V, Gusella JF
published in: Genes, chromosomes & cancer
information resource reference: Frequency and distribution of NF2 mutations in schwannomas. Genes Chromosomes Cancer. 1996 Sep; 17(1):45-55.
journal title abbreviation: Genes Chromosomes Cancer
publication date: 1996-09-01T00:00:00
year: 1996
type: Academic Article
type: Article
type: Document
type: Information Resource

Refined localization of the cerebral cavernous malformation gene (CCM1) to a 4-cM interval of chromosome 7q contained in a well-defined YAC contig.
PubMed Identifier: 8750196
author list: Johnson EW, Iyer LM, Rich SS, Orr HT, Gil-Nagel A, Kurth JH, Zabramski JM, Marchuk DA, Weissenbach J, Clericuzio CL, Davis LE, Hart BL, Gusella JF, Kosofsky BE, Louis DN, Morrison LA, Green ED, Weber JL
published in: Genome research
information resource reference: Refined localization of the cerebral cavernous malformation gene (CCM1) to a 4-cM interval of chromosome 7q contained in a well-defined YAC contig. Genome Res. 1995 Nov; 5(4):368-80.
journal title abbreviation: Genome Res
publication date: 1995-11-01T00:00:00
year: 1995
type: Academic Article
type: Article
type: Document
type: Information Resource

https://connects.catalyst.harvard.edu/Profiles/profile/746638
PubMed Identifier: 1281547
author list: Huang Q, Zhou D, Chase K, Gusella JF, Aronin N, DiFiglia M
published in: Proceedings of the National Academy of Sciences of the United States of America
information resource reference: Immunohistochemical localization of the D1 dopamine receptor in rat brain reveals its axonal transport, pre- and postsynaptic localization, and prevalence in the basal ganglia, limbic system, and thalamic reticular nucleus. Proc Natl Acad Sci U S A. 1992 Dec 15; 89(24):11988-92.
journal title abbreviation: Proc Natl Acad Sci U S A
publication date: 1992-12-15T00:00:00
year: 1992
type: Academic Article
type: Article
type: Document
type: Information Resource
label: Immunohistochemical localization of the D1 dopamine receptor in rat brain reveals its axonal transport, pre- and postsynaptic localization, and prevalence in the basal ganglia, limbic system, and thalamic reticular nucleus.

Genetic evidence for a novel familial Alzheimer's disease locus on chromosome 14.
PubMed Identifier: 1303289
author list: St George-Hyslop P, Haines J, Rogaev E, Mortilla M, Vaula G, Pericak-Vance M, Foncin JF, Montesi M, Bruni A, Sorbi S, Rainero I, Pinessi L, Pollen D, Polinsky R, Nee L, Kennedy J, Macciardi F, Rogaeva E, Liang Y, Alexandrova N, Lukiw W, Schlumpf K, Tanzi R, Tsuda T, Farrer L, Cantu JM, Duara R, Amaducci L, Bergamini L, Gusella J, Roses A, Crapper McLachlan D
published in: Nature genetics
information resource reference: Genetic evidence for a novel familial Alzheimer's disease locus on chromosome 14. Nat Genet. 1992 Dec; 2(4):330-4.
journal title abbreviation: Nat Genet
publication date: 1992-12-01T00:00:00
year: 1992
type: Academic Article
type: Article
type: Document
type: Information Resource

Dinucleotide repeat polymorphisms (D21S223 and D21S224) at 21q22.1.
PubMed Identifier: 1307256
author list: Rosen DR, Sapp PC, O'Regan J, Horvitz HR, Donaldson DH, Nussbaum C, Gusella JF, Haines JL, Pestka S, Jung V
published in: Human molecular genetics
information resource reference: Dinucleotide repeat polymorphisms (D21S223 and D21S224) at 21q22.1. Hum Mol Genet. 1992 Oct; 1(7):547.
journal title abbreviation: Hum Mol Genet
publication date: 1992-10-01T00:00:00
year: 1992
type: Academic Article
type: Article
type: Document
type: Information Resource

The merlin tumor suppressor localizes preferentially in membrane ruffles.
PubMed Identifier: 8808698
author list: Gonzalez-Agosti C, Xu L, Pinney D, Beauchamp R, Hobbs W, Gusella J, Ramesh V
published in: Oncogene
information resource reference: The merlin tumor suppressor localizes preferentially in membrane ruffles. Oncogene. 1996 Sep 19; 13(6):1239-47.
journal title abbreviation: Oncogene
publication date: 1996-09-19T00:00:00
year: 1996
type: Academic Article
type: Article
type: Document
type: Information Resource

Hypokalemic periodic paralysis mutations: confirmation of mutation and analysis of founder effect.
PubMed Identifier: 8845715
author list: Grosson CL, Esteban J, McKenna-Yasek D, Gusella JF, Brown RH
published in: Neuromuscular disorders : NMD
information resource reference: Hypokalemic periodic paralysis mutations: confirmation of mutation and analysis of founder effect. Neuromuscul Disord. 1996 Jan; 6(1):27-31.
journal title abbreviation: Neuromuscul Disord
publication date: 1996-01-01T00:00:00
year: 1996
type: Academic Article
type: Article
type: Document
type: Information Resource

Sequence of the voltage-gated sodium channel beta1-subunit in wild-type and in quivering mice.
PubMed Identifier: 9013777
author list: Grosson CL, Cannon SC, Corey DP, Gusella JF
published in: Brain research. Molecular brain research
information resource reference: Sequence of the voltage-gated sodium channel beta1-subunit in wild-type and in quivering mice. Brain Res Mol Brain Res. 1996 Dec; 42(2):222-6.
journal title abbreviation: Brain Res Mol Brain Res
publication date: 1996-12-01T00:00:00
year: 1996
type: Academic Article
type: Article
type: Document
type: Information Resource

NHE-RF, a regulatory cofactor for Na(+)-H+ exchange, is a common interactor for merlin and ERM (MERM) proteins.
PubMed Identifier: 9430655
author list: Murthy A, Gonzalez-Agosti C, Cordero E, Pinney D, Candia C, Solomon F, Gusella J, Ramesh V
published in: The Journal of biological chemistry
information resource reference: NHE-RF, a regulatory cofactor for Na(+)-H+ exchange, is a common interactor for merlin and ERM (MERM) proteins. J Biol Chem. 1998 Jan 16; 273(3):1273-6.
journal title abbreviation: J Biol Chem
publication date: 1998-01-16T00:00:00
year: 1998
type: Academic Article
type: Article
type: Document
type: Information Resource

Molecular neurobiology and genetics: investigation of neural function and dysfunction.
PubMed Identifier: 9539120
author list: Green T, Heinemann SF, Gusella JF
published in: Neuron
information resource reference: Molecular neurobiology and genetics: investigation of neural function and dysfunction. Neuron. 1998 Mar; 20(3):427-44.
journal title abbreviation: Neuron
publication date: 1998-03-01T00:00:00
year: 1998
type: Academic Article
type: Article
type: Document
type: Information Resource

The NF2 gene and merlin protein in human osteosarcomas.
PubMed Identifier: 9933303
author list: Stemmer-Rachamimov AO, Nielsen GP, Rosenberg AE, Louis DN, Jones D, Ramesh V, Gusella JF, Jacoby LB
published in: Neurogenetics
information resource reference: The NF2 gene and merlin protein in human osteosarcomas. Neurogenetics. 1998 Dec; 2(1):73-4.
journal title abbreviation: Neurogenetics
publication date: 1998-12-01T00:00:00
year: 1998
type: Academic Article
type: Article
type: Document
type: Information Resource

An 86-bp VNTR within IDUA is the basis of the D4S111 polymorphic locus.
PubMed Identifier: 1478658
author list: Scott HS, Nelson PV, MacDonald ME, Gusella JF, Hopwood JJ, Morris CP
published in: Genomics
information resource reference: An 86-bp VNTR within IDUA is the basis of the D4S111 polymorphic locus. Genomics. 1992 Dec; 14(4):1118-20.
journal title abbreviation: Genomics
publication date: 1992-12-01T00:00:00
year: 1992
type: Academic Article
type: Article
type: Document
type: Information Resource

Dinucleotide repeat polymorphism at the D9S119 locus (9q22-34).
PubMed Identifier: 1542605
author list: Kwiatkowski DJ, Gusella JF
published in: Nucleic acids research
information resource reference: Dinucleotide repeat polymorphism at the D9S119 locus (9q22-34). Nucleic Acids Res. 1992 Feb 25; 20(4):932.
journal title abbreviation: Nucleic Acids Res
publication date: 1992-02-25T00:00:00
year: 1992
type: Academic Article
type: Article
type: Document
type: Information Resource

Flanking markers bracket the neurofibromatosis type 2 (NF2) gene on chromosome 22.
PubMed Identifier: 2105641
author list: Rouleau GA, Seizinger BR, Wertelecki W, Haines JL, Superneau DW, Martuza RL, Gusella JF
published in: American journal of human genetics
information resource reference: Flanking markers bracket the neurofibromatosis type 2 (NF2) gene on chromosome 22. Am J Hum Genet. 1990 Feb; 46(2):323-8.
journal title abbreviation: Am J Hum Genet
publication date: 1990-02-01T00:00:00
year: 1990
type: Academic Article
type: Article
type: Document
type: Information Resource

Rescue of a Drosophila NF1 mutant phenotype by protein kinase A.
PubMed Identifier: 9115203
author list: The I, Hannigan GE, Cowley GS, Reginald S, Zhong Y, Gusella JF, Hariharan IK, Bernards A
published in: Science (New York, N.Y.)
information resource reference: Rescue of a Drosophila NF1 mutant phenotype by protein kinase A. Science. 1997 May 02; 276(5313):791-4.
journal title abbreviation: Science
publication date: 1997-05-02T00:00:00
year: 1997
type: Academic Article
type: Article
type: Document
type: Information Resource

Novel mutations in families with unusual and variable disorders of the skeletal muscle sodium channel.
PubMed Identifier: 1338909
author list: McClatchey AI, McKenna-Yasek D, Cros D, Worthen HG, Kuncl RW, DeSilva SM, Cornblath DR, Gusella JF, Brown RH
published in: Nature genetics
information resource reference: Novel mutations in families with unusual and variable disorders of the skeletal muscle sodium channel. Nat Genet. 1992 Oct; 2(2):148-52.
journal title abbreviation: Nat Genet
publication date: 1992-10-01T00:00:00
year: 1992
type: Academic Article
type: Article
type: Document
type: Information Resource

Mapping of ornithine aminotransferase gene sequences to mouse chromosomes 7, X, and 3.
PubMed Identifier: 1349842
author list: Ramesh V, Cheng SV, Kozak CA, Herron BJ, Shih VE, Taylor BA, Gusella JF
published in: Mammalian genome : official journal of the International Mammalian Genome Society
information resource reference: Mapping of ornithine aminotransferase gene sequences to mouse chromosomes 7, X, and 3. Mamm Genome. 1992; 3(1):17-22.
journal title abbreviation: Mamm Genome
publication date: 1992-01-01T00:00:00
year: 1992
type: Academic Article
type: Article
type: Document
type: Information Resource

Molecular analysis of the NF2 tumor-suppressor gene in schwannomatosis.
PubMed Identifier: 9399891
author list: Jacoby LB, Jones D, Davis K, Kronn D, Short MP, Gusella J, MacCollin M
published in: American journal of human genetics
information resource reference: Molecular analysis of the NF2 tumor-suppressor gene in schwannomatosis. Am J Hum Genet. 1997 Dec; 61(6):1293-302.
journal title abbreviation: Am J Hum Genet
publication date: 1997-12-01T00:00:00
year: 1997
type: Academic Article
type: Article
type: Document
type: Information Resource

Evidence for the GluR6 gene associated with younger onset age of Huntington's disease.
PubMed Identifier: 10522893
author list: MacDonald ME, Vonsattel JP, Shrinidhi J, Couropmitree NN, Cupples LA, Bird ED, Gusella JF, Myers RH
published in: Neurology
information resource reference: Evidence for the GluR6 gene associated with younger onset age of Huntington's disease. Neurology. 1999 Oct 12; 53(6):1330-2.
journal title abbreviation: Neurology
publication date: 1999-10-12T00:00:00
year: 1999
type: Academic Article
type: Article
type: Document
type: Information Resource

Defined physical limits of the Huntington disease gene candidate region.
PubMed Identifier: 1829581
author list: Bates GP, MacDonald ME, Baxendale S, Youngman S, Lin C, Whaley WL, Wasmuth JJ, Gusella JF, Lehrach H
published in: American journal of human genetics
information resource reference: Defined physical limits of the Huntington disease gene candidate region. Am J Hum Genet. 1991 Jul; 49(1):7-16.
journal title abbreviation: Am J Hum Genet
publication date: 1991-07-01T00:00:00
year: 1991
type: Academic Article
type: Article
type: Document
type: Information Resource

Evidence for a modifier of onset age in Huntington disease linked to the HD gene in 4p16.
PubMed Identifier: 15029481
author list: Djoussé L, Knowlton B, Hayden MR, Almqvist EW, Brinkman RR, Ross CA, Margolis RL, Rosenblatt A, Durr A, Dode C, Morrison PJ, Novelletto A, Frontali M, Trent RJ, McCusker E, Gómez-Tortosa E, Mayo Cabrero D, Jones R, Zanko A, Nance M, Abramson RK, Suchowersky O, Paulsen JS, Harrison MB, Yang Q, Cupples LA, Mysore J, Gusella JF, MacDonald ME, Myers RH
published in: Neurogenetics
information resource reference: Evidence for a modifier of onset age in Huntington disease linked to the HD gene in 4p16. Neurogenetics. 2004 Jun; 5(2):109-14.
journal title abbreviation: Neurogenetics
publication date: 2004-03-17T00:00:00
year: 2004
type: Academic Article
type: Article
type: Document
type: Information Resource

Localization of one gene for tuberous sclerosis within 9q32-9q34, and further evidence for heterogeneity.
PubMed Identifier: 1897523
author list: Haines JL, Short MP, Kwiatkowski DJ, Jewell A, Andermann E, Bejjani B, Yang CH, Gusella JF, Amos JA
published in: American journal of human genetics
information resource reference: Localization of one gene for tuberous sclerosis within 9q32-9q34, and further evidence for heterogeneity. Am J Hum Genet. 1991 Oct; 49(4):764-72.
journal title abbreviation: Am J Hum Genet
publication date: 1991-10-01T00:00:00
year: 1991
type: Academic Article
type: Article
type: Document
type: Information Resource

Dinucleotide repeat polymorphism (D16S285) on human chromosome 16.
PubMed Identifier: 1923837
author list: Konradi C, Ozelius L, Yan W, Gusella JF, Breakefield XO
published in: Nucleic acids research
information resource reference: Dinucleotide repeat polymorphism (D16S285) on human chromosome 16. Nucleic Acids Res. 1991 Oct 11; 19(19):5449.
journal title abbreviation: Nucleic Acids Res
publication date: 1991-10-11T00:00:00
year: 1991
type: Academic Article
type: Article
type: Document
type: Information Resource

CAG repeat number governs the development rate of pathology in Huntington's disease.
PubMed Identifier: 9153534
author list: Penney JB, Vonsattel JP, MacDonald ME, Gusella JF, Myers RH
published in: Annals of neurology
information resource reference: CAG repeat number governs the development rate of pathology in Huntington's disease. Ann Neurol. 1997 May; 41(5):689-92.
journal title abbreviation: Ann Neurol
publication date: 1997-05-01T00:00:00
year: 1997
type: Academic Article
type: Article
type: Document
type: Information Resource

A dinucleotide repeat polymorphism at the D4S127 locus.
PubMed Identifier: 1339471
author list: Taylor SA, Barnes GT, MacDonald ME, Gusella JF
published in: Human molecular genetics
information resource reference: A dinucleotide repeat polymorphism at the D4S127 locus. Hum Mol Genet. 1992 May; 1(2):142.
journal title abbreviation: Hum Mol Genet
publication date: 1992-05-01T00:00:00
year: 1992
type: Academic Article
type: Article
type: Document
type: Information Resource

The alpha-subunit of the skeletal muscle sodium channel is encoded proximal to Tk-1 on mouse chromosome 11.
PubMed Identifier: 1352160
author list: Ambrose C, Cheng S, Fontaine B, Nadeau JH, MacDonald M, Gusella JF
published in: Mammalian genome : official journal of the International Mammalian Genome Society
information resource reference: The alpha-subunit of the skeletal muscle sodium channel is encoded proximal to Tk-1 on mouse chromosome 11. Mamm Genome. 1992; 3(3):151-5.
journal title abbreviation: Mamm Genome
publication date: 1992-01-01T00:00:00
year: 1992
type: Academic Article
type: Article
type: Document
type: Information Resource

Exon trapping and sequence-based methods of gene finding in transcript mapping of human 4p16.3.
PubMed Identifier: 9661704
author list: Pribill I, Barnes GT, Chen J, Church D, Buckler A, Baxendale S, Bates GP, Lehrach H, Gusella MJ, Duyao MP, Ambrose CM, Gusella JF, MacDonald ME
published in: Somatic cell and molecular genetics
information resource reference: Exon trapping and sequence-based methods of gene finding in transcript mapping of human 4p16.3. Somat Cell Mol Genet. 1997 Nov; 23(6):413-27.
journal title abbreviation: Somat Cell Mol Genet
publication date: 1997-11-01T00:00:00
year: 1997
type: Academic Article
type: Article
type: Document
type: Information Resource

Genetic variation in the 3' untranslated region of the neurofibromatosis 1 gene: application to unequal allelic expression.
PubMed Identifier: 9919310
author list: Cowley GS, Murthy AE, Parry DM, Schneider G, Korf B, Upadhyaya M, Harper P, MacCollin M, Bernards A, Gusella JF
published in: Somatic cell and molecular genetics
information resource reference: Genetic variation in the 3' untranslated region of the neurofibromatosis 1 gene: application to unequal allelic expression. Somat Cell Mol Genet. 1998 Mar; 24(2):107-19.
journal title abbreviation: Somat Cell Mol Genet
publication date: 1998-03-01T00:00:00
year: 1998
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 961188
type: Authorship
author rank in publication: 8
linked author: Gusella, James
linked information resource: Correction: RNA Sequence Analysis of Human Huntington Disease Brain Reveals an Extensive Increase in Inflammatory and Developmental Gene Expression.

Authorship 963173
type: Authorship
author rank in publication: 26
linked author: Gusella, James
linked information resource: Chromosomal contacts connect loci associated with autism, BMI and head circumference phenotypes.

Chromosomal contacts connect loci associated with autism, BMI and head circumference phenotypes.
PubMed Identifier: 27240531
author list: Loviglio MN, Leleu M, Männik K, Passeggeri M, Giannuzzi G, van der Werf I, Waszak SM, Zazhytska M, Roberts-Caldeira I, Gheldof N, Migliavacca E, Alfaiz AA, Hippolyte L, Maillard AM, Van Dijck A, Kooy RF, Sanlaville D, Rosenfeld JA, Shaffer LG, Andrieux J, Marshall C, Scherer SW, Shen Y, Gusella JF, Thorsteinsdottir U, Thorleifsson G, Dermitzakis ET, Deplancke B, Beckmann JS, Rougemont J, Jacquemont S, Reymond A
published in: Molecular psychiatry
information resource reference: Chromosomal contacts connect loci associated with autism, BMI and head circumference phenotypes. Mol Psychiatry. 2017 06; 22(6):836-849.
journal title abbreviation: Mol Psychiatry
publication date: 2016-05-31T00:00:00
year: 2016
type: Academic Article
type: Article
type: Document
type: Information Resource

Correction: RNA Sequence Analysis of Human Huntington Disease Brain Reveals an Extensive Increase in Inflammatory and Developmental Gene Expression.
PubMed Identifier: 27454300
author list: Labadorf A, Hoss AG, Lagomarsino V, Latourelle JC, Hadzi TC, Bregu J, MacDonald ME, Gusella JF, Chen JF, Akbarian S, Weng Z, Myers RH
published in: PloS one
information resource reference: Correction: RNA Sequence Analysis of Human Huntington Disease Brain Reveals an Extensive Increase in Inflammatory and Developmental Gene Expression. PLoS One. 2016; 11(7):e0160295.
journal title abbreviation: PLoS One
publication date: 2016-07-25T00:00:00
year: 2016
type: Academic Article
type: Article
type: Document
type: Information Resource

Dinucleotide repeat polymorphism at the D9S120 locus (9q31-34).
PubMed Identifier: 1542606
author list: Kwiatkowski DJ, Gusella JF
published in: Nucleic acids research
information resource reference: Dinucleotide repeat polymorphism at the D9S120 locus (9q31-34). Nucleic Acids Res. 1992 Feb 25; 20(4):933.
journal title abbreviation: Nucleic Acids Res
publication date: 1992-02-25T00:00:00
year: 1992
type: Academic Article
type: Article
type: Document
type: Information Resource

The genetic defect causing Huntington's disease: repeated in other contexts?
PubMed Identifier: 9131586
author list: Gusella JF, Persichetti F, MacDonald ME
published in: Molecular medicine (Cambridge, Mass.)
information resource reference: The genetic defect causing Huntington's disease: repeated in other contexts? Mol Med. 1997 Apr; 3(4):238-46.
journal title abbreviation: Mol Med
publication date: 1997-04-01T00:00:00
year: 1997
type: Academic Article
type: Article
type: Document
type: Information Resource

Huntington's disease.
PubMed Identifier: 9246488
author list: Gusella JF, McNeil S, Persichetti F, Srinidhi J, Novelletto A, Bird E, Faber P, Vonsattel JP, Myers RH, MacDonald ME
published in: Cold Spring Harbor symposia on quantitative biology
information resource reference: Huntington's disease. Cold Spring Harb Symp Quant Biol. 1996; 61:615-26.
journal title abbreviation: Cold Spring Harb Symp Quant Biol
publication date: 1996-01-01T00:00:00
year: 1996
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 967020
type: Authorship
author rank in publication: 1
linked author: Gusella, James
linked information resource: 2016 William Allan Award: Human Disease Research: Genetic Cycling and Re-cycling.

2016 William Allan Award: Human Disease Research: Genetic Cycling and Re-cycling.
PubMed Identifier: 28257685
author list: Gusella JF
published in: American journal of human genetics
information resource reference: 2016 William Allan Award: Human Disease Research: Genetic Cycling and Re-cycling. Am J Hum Genet. 2017 Mar 02; 100(3):387-394.
journal title abbreviation: Am J Hum Genet
publication date: 2017-03-02T00:00:00
year: 2017
type: Academic Article
type: Article
type: Document
type: Information Resource

Brain-derived neurotrophic factor does not influence age at neurologic onset of Huntington's disease.
PubMed Identifier: 16962786
author list: Kishikawa S, Li JL, Gillis T, Hakky MM, Warby S, Hayden M, MacDonald ME, Myers RH, Gusella JF
published in: Neurobiology of disease
information resource reference: Brain-derived neurotrophic factor does not influence age at neurologic onset of Huntington's disease. Neurobiol Dis. 2006 Nov; 24(2):280-5.
journal title abbreviation: Neurobiol Dis
publication date: 2006-09-07T00:00:00
year: 2006
type: Academic Article
type: Article
type: Document
type: Information Resource

Molecular genetics: unmasking polyglutamine triggers in neurodegenerative disease.
PubMed Identifier: 11252773
author list: Gusella JF, MacDonald ME
published in: Nature reviews. Neuroscience
information resource reference: Molecular genetics: unmasking polyglutamine triggers in neurodegenerative disease. Nat Rev Neurosci. 2000 Nov; 1(2):109-15.
journal title abbreviation: Nat Rev Neurosci
publication date: 2000-11-01T00:00:00
year: 2000
type: Academic Article
type: Article
type: Document
type: Information Resource

PARK3 influences age at onset in Parkinson disease: a genome scan in the GenePD study.
PubMed Identifier: 11920285
author list: DeStefano AL, Lew MF, Golbe LI, Mark MH, Lazzarini AM, Guttman M, Montgomery E, Waters CH, Singer C, Watts RL, Currie LJ, Wooten GF, Maher NE, Wilk JB, Sullivan KM, Slater KM, Saint-Hilaire MH, Feldman RG, Suchowersky O, Lafontaine AL, Labelle N, Growdon JH, Vieregge P, Pramstaller PP, Klein C, Hubble JP, Reider CR, Stacy M, MacDonald ME, Gusella JF, Myers RH
published in: American journal of human genetics
information resource reference: PARK3 influences age at onset in Parkinson disease: a genome scan in the GenePD study. Am J Hum Genet. 2002 May; 70(5):1089-95.
journal title abbreviation: Am J Hum Genet
publication date: 2002-03-27T00:00:00
year: 2002
type: Academic Article
type: Article
type: Document
type: Information Resource

A humanized IKBKAP transgenic mouse models a tissue-specific human splicing defect.
PubMed Identifier: 17644305
author list: Hims MM, Shetty RS, Pickel J, Mull J, Leyne M, Liu L, Gusella JF, Slaugenhaupt SA
published in: Genomics
information resource reference: A humanized IKBKAP transgenic mouse models a tissue-specific human splicing defect. Genomics. 2007 Sep; 90(3):389-96.
journal title abbreviation: Genomics
publication date: 2007-07-17T00:00:00
year: 2007
type: Academic Article
type: Article
type: Document
type: Information Resource

Replication of association between ELAVL4 and Parkinson disease: the GenePD study.
PubMed Identifier: 18587682
author list: DeStefano AL, Latourelle J, Lew MF, Suchowersky O, Klein C, Golbe LI, Mark MH, Growdon JH, Wooten GF, Watts R, Guttman M, Racette BA, Perlmutter JS, Marlor L, Shill HA, Singer C, Goldwurm S, Pezzoli G, Saint-Hilaire MH, Hendricks AE, Gower A, Williamson S, Nagle MW, Wilk JB, Massood T, Huskey KW, Baker KB, Itin I, Litvan I, Nicholson G, Corbett A, Nance M, Drasby E, Isaacson S, Burn DJ, Chinnery PF, Pramstaller PP, Al-Hinti J, Moller AT, Ostergaard K, Sherman SJ, Roxburgh R, Snow B, Slevin JT, Cambi F, Gusella JF, Myers RH
published in: Human genetics
information resource reference: Replication of association between ELAVL4 and Parkinson disease: the GenePD study. Hum Genet. 2008 Aug; 124(1):95-9.
journal title abbreviation: Hum Genet
publication date: 2008-06-29T00:00:00
year: 2008
type: Academic Article
type: Article
type: Document
type: Information Resource

Huntington's disease: the case for genetic modifiers.
PubMed Identifier: 19725930
author list: Gusella JF, MacDonald ME
published in: Genome medicine
information resource reference: Huntington's disease: the case for genetic modifiers. Genome Med. 2009 Aug 21; 1(8):80.
journal title abbreviation: Genome Med
publication date: 2009-08-21T00:00:00
year: 2009
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 972158
type: Authorship
author rank in publication: 11
linked author: Gusella, James
linked information resource: A complex intragenic rearrangement of ERCC8 in Chinese siblings with Cockayne syndrome.

Authorship 972344
type: Authorship
author rank in publication: 9
linked author: Gusella, James
linked information resource: High resolution time-course mapping of early transcriptomic, molecular and cellular phenotypes in Huntington's disease CAG knock-in mice across multiple genetic backgrounds.

A complex intragenic rearrangement of ERCC8 in Chinese siblings with Cockayne syndrome.
PubMed Identifier: 28333167
author list: Xie H, Li X, Peng J, Chen Q, Gao Z, Song X, Li W, Xiao J, Li C, Zhang T, Gusella JF, Zhong J, Chen X
published in: Scientific reports
information resource reference: A complex intragenic rearrangement of ERCC8 in Chinese siblings with Cockayne syndrome. Sci Rep. 2017 03 23; 7:44271.
journal title abbreviation: Sci Rep
publication date: 2017-03-23T00:00:00
year: 2017
type: Academic Article
type: Article
type: Document
type: Information Resource

High resolution time-course mapping of early transcriptomic, molecular and cellular phenotypes in Huntington's disease CAG knock-in mice across multiple genetic backgrounds.
PubMed Identifier: 28334820
author list: Ament SA, Pearl JR, Grindeland A, St Claire J, Earls JC, Kovalenko M, Gillis T, Mysore J, Gusella JF, Lee JM, Kwak S, Howland D, Lee MY, Baxter D, Scherler K, Wang K, Geman D, Carroll JB, MacDonald ME, Carlson G, Wheeler VC, Price ND, Hood LE
published in: Human molecular genetics
information resource reference: High resolution time-course mapping of early transcriptomic, molecular and cellular phenotypes in Huntington's disease CAG knock-in mice across multiple genetic backgrounds. Hum Mol Genet. 2017 03 01; 26(5):913-922.
journal title abbreviation: Hum Mol Genet
publication date: 2017-03-01T00:00:00
year: 2017
type: Academic Article
type: Article
type: Document
type: Information Resource

A novel approach to investigate tissue-specific trinucleotide repeat instability.
PubMed Identifier: 20302627
author list: Lee JM, Zhang J, Su AI, Walker JR, Wiltshire T, Kang K, Dragileva E, Gillis T, Lopez ET, Boily MJ, Cyr M, Kohane I, Gusella JF, MacDonald ME, Wheeler VC
published in: BMC systems biology
information resource reference: A novel approach to investigate tissue-specific trinucleotide repeat instability. BMC Syst Biol. 2010 Mar 19; 4:29.
journal title abbreviation: BMC Syst Biol
publication date: 2010-03-19T00:00:00
year: 2010
type: Academic Article
type: Article
type: Document
type: Information Resource

Further characterization of PstI RFLPs at the acid alpha glucosidase (GAA) locus.
PubMed Identifier: 1674146
author list: Tzall S, Martiniuk F, Ozelius L, Gusella J, Hirschhorn R
published in: Nucleic acids research
information resource reference: Further characterization of PstI RFLPs at the acid alpha glucosidase (GAA) locus. Nucleic Acids Res. 1991 Apr 11; 19(7):1727.
journal title abbreviation: Nucleic Acids Res
publication date: 1991-04-11T00:00:00
year: 1991
type: Academic Article
type: Article
type: Document
type: Information Resource

Magicin, a novel cytoskeletal protein associates with the NF2 tumor suppressor merlin and Grb2.
PubMed Identifier: 15467741
author list: Wiederhold T, Lee MF, James M, Neujahr R, Smith N, Murthy A, Hartwig J, Gusella JF, Ramesh V
published in: Oncogene
information resource reference: Magicin, a novel cytoskeletal protein associates with the NF2 tumor suppressor merlin and Grb2. Oncogene. 2004 Nov 18; 23(54):8815-25.
journal title abbreviation: Oncogene
publication date: 2004-11-18T00:00:00
year: 2004
type: Academic Article
type: Article
type: Document
type: Information Resource

Fine localization of the torsion dystonia gene (DYT1) on human chromosome 9q34: YAC map and linkage disequilibrium.
PubMed Identifier: 9149944
author list: Ozelius LJ, Hewett J, Kramer P, Bressman SB, Shalish C, de Leon D, Rutter M, Risch N, Brin MF, Markova ED, Limborska SA, Ivanova-Smolenskaya IA, McCormick MK, Fahn S, Buckler AJ, Gusella JF, Breakefield XO
published in: Genome research
information resource reference: Fine localization of the torsion dystonia gene (DYT1) on human chromosome 9q34: YAC map and linkage disequilibrium. Genome Res. 1997 May; 7(5):483-94.
journal title abbreviation: Genome Res
publication date: 1997-05-01T00:00:00
year: 1997
type: Academic Article
type: Article
type: Document
type: Information Resource

Targeted inactivation of the mouse Huntington's disease gene homolog Hdh.
PubMed Identifier: 9246489
author list: MacDonald ME, Duyao M, Calzonetti T, Auerbach A, Ryan A, Barnes G, White JK, Auerbach W, Vonsattel JP, Gusella JF, Joyner AL
published in: Cold Spring Harbor symposia on quantitative biology
information resource reference: Targeted inactivation of the mouse Huntington's disease gene homolog Hdh. Cold Spring Harb Symp Quant Biol. 1996; 61:627-38.
journal title abbreviation: Cold Spring Harb Symp Quant Biol
publication date: 1996-01-01T00:00:00
year: 1996
type: Academic Article
type: Article
type: Document
type: Information Resource

Chromosome 21 genetic linkage data set based on the Venezuelan reference pedigree.
PubMed Identifier: 1346592
author list: Haines JL, Trofatter JA, Tanzi RE, Watkins P, Wexler NS, Conneally PM, Gusella JF
published in: Cytogenetics and cell genetics
information resource reference: Chromosome 21 genetic linkage data set based on the Venezuelan reference pedigree. Cytogenet Cell Genet. 1992; 59(2-3):88-9.
journal title abbreviation: Cytogenet Cell Genet
publication date: 1992-01-01T00:00:00
year: 1992
type: Academic Article
type: Article
type: Document
type: Information Resource

The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein.
PubMed Identifier: 9288096
author list: Ozelius LJ, Hewett JW, Page CE, Bressman SB, Kramer PL, Shalish C, de Leon D, Brin MF, Raymond D, Corey DP, Fahn S, Risch NJ, Buckler AJ, Gusella JF, Breakefield XO
published in: Nature genetics
information resource reference: The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein. Nat Genet. 1997 Sep; 17(1):40-8.
journal title abbreviation: Nat Genet
publication date: 1997-09-01T00:00:00
year: 1997
type: Academic Article
type: Article
type: Document
type: Information Resource

A recombination event that redefines the Huntington disease region.
PubMed Identifier: 1386495
author list: Snell RG, Thompson LM, Tagle DA, Holloway TL, Barnes G, Harley HG, Sandkuijl LA, MacDonald ME, Collins FS, Gusella JF
published in: American journal of human genetics
information resource reference: A recombination event that redefines the Huntington disease region. Am J Hum Genet. 1992 Aug; 51(2):357-62.
journal title abbreviation: Am J Hum Genet
publication date: 1992-08-01T00:00:00
year: 1992
type: Academic Article
type: Article
type: Document
type: Information Resource

Sequence-tagged sites (STSs) spanning 4p16.3 and the Huntington disease candidate region.
PubMed Identifier: 1533609
author list: Gusella JF, Altherr MR, McClatchey AI, Doucette-Stamm LA, Tagle D, Plummer S, Groot N, Barnes G, Hummerich H, Collins FS
published in: Genomics
information resource reference: Sequence-tagged sites (STSs) spanning 4p16.3 and the Huntington disease candidate region. Genomics. 1992 May; 13(1):75-80.
journal title abbreviation: Genomics
publication date: 1992-05-01T00:00:00
year: 1992
type: Academic Article
type: Article
type: Document
type: Information Resource

Molecular pathology of gyrate atrophy of the choroid and retina due to ornithine aminotransferase deficiency.
PubMed Identifier: 1682785
author list: Ramesh V, Gusella JF, Shih VE
published in: Molecular biology & medicine
information resource reference: Molecular pathology of gyrate atrophy of the choroid and retina due to ornithine aminotransferase deficiency. Mol Biol Med. 1991 Feb; 8(1):81-93.
journal title abbreviation: Mol Biol Med
publication date: 1991-02-01T00:00:00
year: 1991
type: Academic Article
type: Article
type: Document
type: Information Resource

Huntington's disease.
PubMed Identifier: 1839348
author list: Gusella JF
published in: Advances in human genetics
information resource reference: Huntington's disease. Adv Hum Genet. 1991; 20:125-51.
journal title abbreviation: Adv Hum Genet
publication date: 1991-01-01T00:00:00
year: 1991
type: Academic Article
type: Article
type: Document
type: Information Resource

Torsion dystonia genes in two populations confined to a small region on chromosome 9q32-34.
PubMed Identifier: 1867195
author list: Kwiatkowski DJ, Ozelius L, Kramer PL, Perman S, Schuback DE, Gusella JF, Fahn S, Breakefield XO
published in: American journal of human genetics
information resource reference: Torsion dystonia genes in two populations confined to a small region on chromosome 9q32-34. Am J Hum Genet. 1991 Aug; 49(2):366-71.
journal title abbreviation: Am J Hum Genet
publication date: 1991-08-01T00:00:00
year: 1991
type: Academic Article
type: Article
type: Document
type: Information Resource

Frequent loss of chromosome 14 in atypical and malignant meningioma: identification of a putative 'tumor progression' locus.
PubMed Identifier: 9053860
author list: Menon AG, Rutter JL, von Sattel JP, Synder H, Murdoch C, Blumenfeld A, Martuza RL, von Deimling A, Gusella JF, Houseal TW
published in: Oncogene
information resource reference: Frequent loss of chromosome 14 in atypical and malignant meningioma: identification of a putative 'tumor progression' locus. Oncogene. 1997 Feb 06; 14(5):611-6.
journal title abbreviation: Oncogene
publication date: 1997-02-06T00:00:00
year: 1997
type: Academic Article
type: Article
type: Document
type: Information Resource

Mice heterozygous for a mutation at the Nf2 tumor suppressor locus develop a range of highly metastatic tumors.
PubMed Identifier: 9553042
author list: McClatchey AI, Saotome I, Mercer K, Crowley D, Gusella JF, Bronson RT, Jacks T
published in: Genes & development
information resource reference: Mice heterozygous for a mutation at the Nf2 tumor suppressor locus develop a range of highly metastatic tumors. Genes Dev. 1998 Apr 15; 12(8):1121-33.
journal title abbreviation: Genes Dev
publication date: 1998-04-15T00:00:00
year: 1998
type: Academic Article
type: Article
type: Document
type: Information Resource

Length-dependent gametic CAG repeat instability in the Huntington's disease knock-in mouse.
PubMed Identifier: 9887339
author list: Wheeler VC, Auerbach W, White JK, Srinidhi J, Auerbach A, Ryan A, Duyao MP, Vrbanac V, Weaver M, Gusella JF, Joyner AL, MacDonald ME
published in: Human molecular genetics
information resource reference: Length-dependent gametic CAG repeat instability in the Huntington's disease knock-in mouse. Hum Mol Genet. 1999 Jan; 8(1):115-22.
journal title abbreviation: Hum Mol Genet
publication date: 1999-01-01T00:00:00
year: 1999
type: Academic Article
type: Article
type: Document
type: Information Resource

Complete human NF1 cDNA sequence: two alternatively spliced mRNAs and absence of expression in a neuroblastoma line.
PubMed Identifier: 1457041
author list: Bernards A, Haase VH, Murthy AE, Menon A, Hannigan GE, Gusella JF
published in: DNA and cell biology
information resource reference: Complete human NF1 cDNA sequence: two alternatively spliced mRNAs and absence of expression in a neuroblastoma line. DNA Cell Biol. 1992 Dec; 11(10):727-34.
journal title abbreviation: DNA Cell Biol
publication date: 1992-12-01T00:00:00
year: 1992
type: Academic Article
type: Article
type: Document
type: Information Resource

Neurofibromatosis 2: loss of merlin's protective spell.
PubMed Identifier: 8791482
author list: Gusella JF, Ramesh V, MacCollin M, Jacoby LB
published in: Current opinion in genetics & development
information resource reference: Neurofibromatosis 2: loss of merlin's protective spell. Curr Opin Genet Dev. 1996 Feb; 6(1):87-92.
journal title abbreviation: Curr Opin Genet Dev
publication date: 1996-02-01T00:00:00
year: 1996
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type: Document
type: Information Resource

Differential expression of normal and mutant Huntington's disease gene alleles.
PubMed Identifier: 8980018
author list: Persichetti F, Carlee L, Faber PW, McNeil SM, Ambrose CM, Srinidhi J, Anderson M, Barnes GT, Gusella JF, MacDonald ME
published in: Neurobiology of disease
information resource reference: Differential expression of normal and mutant Huntington's disease gene alleles. Neurobiol Dis. 1996; 3(3):183-90.
journal title abbreviation: Neurobiol Dis
publication date: 1996-01-01T00:00:00
year: 1996
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Heterogeneous topographic and cellular distribution of huntingtin expression in the normal human neostriatum.
PubMed Identifier: 9096140
author list: Ferrante RJ, Gutekunst CA, Persichetti F, McNeil SM, Kowall NW, Gusella JF, MacDonald ME, Beal MF, Hersch SM
published in: The Journal of neuroscience : the official journal of the Society for Neuroscience
information resource reference: Heterogeneous topographic and cellular distribution of huntingtin expression in the normal human neostriatum. J Neurosci. 1997 May 01; 17(9):3052-63.
journal title abbreviation: J Neurosci
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Dinucleotide repeat polymorphism at the D9S112 locus (9q31-34).
PubMed Identifier: 1542600
author list: Kwiatkowski DJ, Gusella JF
published in: Nucleic acids research
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journal title abbreviation: Nucleic Acids Res
publication date: 1992-02-25T00:00:00
year: 1992
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Dinucleotide repeat polymorphism at the D9S116 locus (9q31-34).
PubMed Identifier: 1542602
author list: Kwiatkowski DJ, Gusella JF
published in: Nucleic acids research
information resource reference: Dinucleotide repeat polymorphism at the D9S116 locus (9q31-34). Nucleic Acids Res. 1992 Feb 25; 20(4):931.
journal title abbreviation: Nucleic Acids Res
publication date: 1992-02-25T00:00:00
year: 1992
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Early phenotypes that presage late-onset neurodegenerative disease allow testing of modifiers in Hdh CAG knock-in mice.
PubMed Identifier: 11912178
author list: Wheeler VC, Gutekunst CA, Vrbanac V, Lebel LA, Schilling G, Hersch S, Friedlander RM, Gusella JF, Vonsattel JP, Borchelt DR, MacDonald ME
published in: Human molecular genetics
information resource reference: Early phenotypes that presage late-onset neurodegenerative disease allow testing of modifiers in Hdh CAG knock-in mice. Hum Mol Genet. 2002 Mar 15; 11(6):633-40.
journal title abbreviation: Hum Mol Genet
publication date: 2002-03-15T00:00:00
year: 2002
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Precise genetic mapping and haplotype analysis of the familial dysautonomia gene on human chromosome 9q31.
PubMed Identifier: 10090896
author list: Blumenfeld A, Slaugenhaupt SA, Liebert CB, Temper V, Maayan C, Gill S, Lucente DE, Idelson M, MacCormack K, Monahan MA, Mull J, Leyne M, Mendillo M, Schiripo T, Mishori E, Breakefield X, Axelrod FB, Gusella JF
published in: American journal of human genetics
information resource reference: Precise genetic mapping and haplotype analysis of the familial dysautonomia gene on human chromosome 9q31. Am J Hum Genet. 1999 Apr; 64(4):1110-8.
journal title abbreviation: Am J Hum Genet
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Quantitative neuropathological changes in presymptomatic Huntington's disease.
PubMed Identifier: 11198293
author list: Gómez-Tortosa E, MacDonald ME, Friend JC, Taylor SA, Weiler LJ, Cupples LA, Srinidhi J, Gusella JF, Bird ED, Vonsattel JP, Myers RH
published in: Annals of neurology
information resource reference: Quantitative neuropathological changes in presymptomatic Huntington's disease. Ann Neurol. 2001 Jan; 49(1):29-34.
journal title abbreviation: Ann Neurol
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Oligogenic basis of isolated gonadotropin-releasing hormone deficiency.
PubMed Identifier: 20696889
author list: Sykiotis GP, Plummer L, Hughes VA, Au M, Durrani S, Nayak-Young S, Dwyer AA, Quinton R, Hall JE, Gusella JF, Seminara SB, Crowley WF, Pitteloud N
published in: Proceedings of the National Academy of Sciences of the United States of America
information resource reference: Oligogenic basis of isolated gonadotropin-releasing hormone deficiency. Proc Natl Acad Sci U S A. 2010 Aug 24; 107(34):15140-4.
journal title abbreviation: Proc Natl Acad Sci U S A
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Intra-family phenotypic heterogeneity of 16p11.2 deletion carriers in a three-generation Chinese family.
PubMed Identifier: 21302351
author list: Shen Y, Chen X, Wang L, Guo J, Shen J, An Y, Zhu H, Zhu Y, Xin R, Bao Y, Gusella JF, Zhang T, Wu BL
published in: American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics
information resource reference: Intra-family phenotypic heterogeneity of 16p11.2 deletion carriers in a three-generation Chinese family. Am J Med Genet B Neuropsychiatr Genet. 2011 Mar; 156(2):225-32.
journal title abbreviation: Am J Med Genet B Neuropsychiatr Genet
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Deficiency of huntingtin has pleiotropic effects in the social amoeba Dictyostelium discoideum.
PubMed Identifier: 21552328
author list: Myre MA, Lumsden AL, Thompson MN, Wasco W, MacDonald ME, Gusella JF
published in: PLoS genetics
information resource reference: Deficiency of huntingtin has pleiotropic effects in the social amoeba Dictyostelium discoideum. PLoS Genet. 2011 Apr; 7(4):e1002052.
journal title abbreviation: PLoS Genet
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Genomewide linkage study of modifiers of LRRK2-related Parkinson's disease.
PubMed Identifier: 21661047
author list: Latourelle JC, Hendricks AE, Pankratz N, Wilk JB, Halter C, Nichols WC, Gusella JF, Destefano AL, Myers RH, Foroud T
published in: Movement disorders : official journal of the Movement Disorder Society
information resource reference: Genomewide linkage study of modifiers of LRRK2-related Parkinson's disease. Mov Disord. 2011 Sep; 26(11):2039-44.
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Molecular genetics of an autosomal dominant form of torsion dystonia.
PubMed Identifier: 2899954
author list: Kramer PL, Ozelius L, Brin MF, Fahn S, Kidd KK, Gusella J, Breakefield XO
published in: Advances in neurology
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journal title abbreviation: Adv Neurol
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Regulation of mTOR complex 2 signaling in neurofibromatosis 2-deficient target cell types.
PubMed Identifier: 22426462
author list: James MF, Stivison E, Beauchamp R, Han S, Li H, Wallace MR, Gusella JF, Stemmer-Rachamimov AO, Ramesh V
published in: Molecular cancer research : MCR
information resource reference: Regulation of mTOR complex 2 signaling in neurofibromatosis 2-deficient target cell types. Mol Cancer Res. 2012 May; 10(5):649-59.
journal title abbreviation: Mol Cancer Res
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Role of common and rare APP DNA sequence variants in Alzheimer disease.
PubMed Identifier: 22491860
author list: Hooli BV, Mohapatra G, Mattheisen M, Parrado AR, Roehr JT, Shen Y, Gusella JF, Moir R, Saunders AJ, Lange C, Tanzi RE, Bertram L
published in: Neurology
information resource reference: Role of common and rare APP DNA sequence variants in Alzheimer disease. Neurology. 2012 Apr 17; 78(16):1250-7.
journal title abbreviation: Neurology
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Localization of DNA sequences in region Xp21 of the human X chromosome: search for molecular markers close to the Duchenne muscular dystrophy locus.
PubMed Identifier: 2984924
author list: de Martinville B, Kunkel LM, Bruns G, Morlé F, Koenig M, Mandel JL, Horwich A, Latt SA, Gusella JF, Housman D
published in: American journal of human genetics
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Genetic linkage analysis of neurofibromatosis with DNA markers.
PubMed Identifier: 3105395
author list: Seizinger BR, Tanzi RE, Gilliam TC, Bader JL, Parry DM, Spence MA, Marazita ML, Gibbons K, Hobbs W, Gusella JF
published in: Annals of the New York Academy of Sciences
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A gene encoding a fibroblast growth factor receptor isolated from the Huntington disease gene region of human chromosome 4.
PubMed Identifier: 1664411
author list: Thompson LM, Plummer S, Schalling M, Altherr MR, Gusella JF, Housman DE, Wasmuth JJ
published in: Genomics
information resource reference: A gene encoding a fibroblast growth factor receptor isolated from the Huntington disease gene region of human chromosome 4. Genomics. 1991 Dec; 11(4):1133-42.
journal title abbreviation: Genomics
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Detection by PCR of a VNTR polymorphism at D4S43.
PubMed Identifier: 1679922
author list: Horn GT, McClatchey AI, Richards B, MacDonald ME, Gusella JF
published in: Nucleic acids research
information resource reference: Detection by PCR of a VNTR polymorphism at D4S43. Nucleic Acids Res. 1991 Sep 11; 19(17):4772.
journal title abbreviation: Nucleic Acids Res
publication date: 1991-09-11T00:00:00
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Construction of a GT polymorphism map of human 9q.
PubMed Identifier: 1339384
author list: Kwiatkowski DJ, Henske EP, Weimer K, Ozelius L, Gusella JF, Haines J
published in: Genomics
information resource reference: Construction of a GT polymorphism map of human 9q. Genomics. 1992 Feb; 12(2):229-40.
journal title abbreviation: Genomics
publication date: 1992-02-01T00:00:00
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Huntingtin: a single bait hooks many species.
PubMed Identifier: 9687360
author list: Gusella JF, MacDonald ME
published in: Current opinion in neurobiology
information resource reference: Huntingtin: a single bait hooks many species. Curr Opin Neurobiol. 1998 Jun; 8(3):425-30.
journal title abbreviation: Curr Opin Neurobiol
publication date: 1998-06-01T00:00:00
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Computer-mediated social support: single young mothers as a model system.
PubMed Identifier: 9693693
author list: Dunham PJ, Hurshman A, Litwin E, Gusella J, Ellsworth C, Dodd PW
published in: American journal of community psychology
information resource reference: Computer-mediated social support: single young mothers as a model system. Am J Community Psychol. 1998 Apr; 26(2):281-306.
journal title abbreviation: Am J Community Psychol
publication date: 1998-04-01T00:00:00
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Assignment of persephin (PSPN), a human neurotrophic factor, to chromosome 19p13.3 by radiation hybrid mapping and somatic cell hybrid PCR.
PubMed Identifier: 10072588
author list: Chadwick BP, Helbling LA, Angrist M, Chakravarti A, Gusella JF, Slaugenhaupt SA
published in: Cytogenetics and cell genetics
information resource reference: Assignment of persephin (PSPN), a human neurotrophic factor, to chromosome 19p13.3 by radiation hybrid mapping and somatic cell hybrid PCR. Cytogenet Cell Genet. 1998; 83(3-4):236-7.
journal title abbreviation: Cytogenet Cell Genet
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Mutant huntingtin forms in vivo complexes with distinct context-dependent conformations of the polyglutamine segment.
PubMed Identifier: 10527804
author list: Persichetti F, Trettel F, Huang CC, Fraefel C, Timmers HT, Gusella JF, MacDonald ME
published in: Neurobiology of disease
information resource reference: Mutant huntingtin forms in vivo complexes with distinct context-dependent conformations of the polyglutamine segment. Neurobiol Dis. 1999 Oct; 6(5):364-75.
journal title abbreviation: Neurobiol Dis
publication date: 1999-10-01T00:00:00
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Tissue-specific expression of a splicing mutation in the IKBKAP gene causes familial dysautonomia.
PubMed Identifier: 11179008
author list: Slaugenhaupt SA, Blumenfeld A, Gill SP, Leyne M, Mull J, Cuajungco MP, Liebert CB, Chadwick B, Idelson M, Reznik L, Robbins C, Makalowska I, Brownstein M, Krappmann D, Scheidereit C, Maayan C, Axelrod FB, Gusella JF
published in: American journal of human genetics
information resource reference: Tissue-specific expression of a splicing mutation in the IKBKAP gene causes familial dysautonomia. Am J Hum Genet. 2001 Mar; 68(3):598-605.
journal title abbreviation: Am J Hum Genet
publication date: 2001-01-22T00:00:00
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Tissue-specific reduction in splicing efficiency of IKBKAP due to the major mutation associated with familial dysautonomia.
PubMed Identifier: 12577200
author list: Cuajungco MP, Leyne M, Mull J, Gill SP, Lu W, Zagzag D, Axelrod FB, Maayan C, Gusella JF, Slaugenhaupt SA
published in: American journal of human genetics
information resource reference: Tissue-specific reduction in splicing efficiency of IKBKAP due to the major mutation associated with familial dysautonomia. Am J Hum Genet. 2003 Mar; 72(3):749-58.
journal title abbreviation: Am J Hum Genet
publication date: 2003-02-06T00:00:00
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Inactivation patterns of NF2 and DAL-1/4.1B (EPB41L3) in sporadic meningioma.
PubMed Identifier: 16213361
author list: Nunes F, Shen Y, Niida Y, Beauchamp R, Stemmer-Rachamimov AO, Ramesh V, Gusella J, MacCollin M
published in: Cancer genetics and cytogenetics
information resource reference: Inactivation patterns of NF2 and DAL-1/4.1B (EPB41L3) in sporadic meningioma. Cancer Genet Cytogenet. 2005 Oct 15; 162(2):135-9.
journal title abbreviation: Cancer Genet Cytogenet
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Huntington's disease CAG trinucleotide repeats in pathologically confirmed post-mortem brains.
PubMed Identifier: 9173995
author list: Persichetti F, Srinidhi J, Kanaley L, Ge P, Myers RH, D'Arrigo K, Barnes GT, MacDonald ME, Vonsattel JP, Gusella JF
published in: Neurobiology of disease
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journal title abbreviation: Neurobiol Dis
publication date: 1994-12-01T00:00:00
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The FERM domain: a unique module involved in the linkage of cytoplasmic proteins to the membrane.
PubMed Identifier: 9757824
author list: Chishti AH, Kim AC, Marfatia SM, Lutchman M, Hanspal M, Jindal H, Liu SC, Low PS, Rouleau GA, Mohandas N, Chasis JA, Conboy JG, Gascard P, Takakuwa Y, Huang SC, Benz EJ, Bretscher A, Fehon RG, Gusella JF, Ramesh V, Solomon F, Marchesi VT, Tsukita S, Tsukita S, Hoover KB
published in: Trends in biochemical sciences
information resource reference: The FERM domain: a unique module involved in the linkage of cytoplasmic proteins to the membrane. Trends Biochem Sci. 1998 Aug; 23(8):281-2.
journal title abbreviation: Trends Biochem Sci
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Amyloid formation by mutant huntingtin: threshold, progressivity and recruitment of normal polyglutamine proteins.
PubMed Identifier: 10410676
author list: Huang CC, Faber PW, Persichetti F, Mittal V, Vonsattel JP, MacDonald ME, Gusella JF
published in: Somatic cell and molecular genetics
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journal title abbreviation: Somat Cell Mol Genet
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Familial dysautonomia.
PubMed Identifier: 12076674
author list: Slaugenhaupt SA, Gusella JF
published in: Current opinion in genetics & development
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journal title abbreviation: Curr Opin Genet Dev
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Huntington's disease: translating a CAG repeat into a pathogenic mechanism.
PubMed Identifier: 8937828
author list: MacDonald ME, Gusella JF
published in: Current opinion in neurobiology
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journal title abbreviation: Curr Opin Neurobiol
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Universal absence of merlin, but not other ERM family members, in schwannomas.
PubMed Identifier: 9403715
author list: Stemmer-Rachamimov AO, Xu L, Gonzalez-Agosti C, Burwick JA, Pinney D, Beauchamp R, Jacoby LB, Gusella JF, Ramesh V, Louis DN
published in: The American journal of pathology
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journal title abbreviation: Am J Pathol
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Radiation hybrid map spanning the Huntington disease gene region of chromosome 4.
PubMed Identifier: 1387106
author list: Altherr MR, Plummer S, Bates G, MacDonald M, Taylor S, Lehrach H, Frischauf AM, Gusella JF, Boehnke M, Wasmuth JJ
published in: Genomics
information resource reference: Radiation hybrid map spanning the Huntington disease gene region of chromosome 4. Genomics. 1992 Aug; 13(4):1040-6.
journal title abbreviation: Genomics
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Inflammatory bowel disease: is it in the genes?
PubMed Identifier: 9797387
author list: Gusella JF, Podolsky DK
published in: Gastroenterology
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journal title abbreviation: Gastroenterology
publication date: 1998-11-01T00:00:00
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Cloning, mapping, and expression of two novel actin genes, actin-like-7A (ACTL7A) and actin-like-7B (ACTL7B), from the familial dysautonomia candidate region on 9q31.
PubMed Identifier: 10373328
author list: Chadwick BP, Mull J, Helbling LA, Gill S, Leyne M, Robbins CM, Pinkett HW, Makalowska I, Maayan C, Blumenfeld A, Axelrod FB, Brownstein M, Gusella JF, Slaugenhaupt SA
published in: Genomics
information resource reference: Cloning, mapping, and expression of two novel actin genes, actin-like-7A (ACTL7A) and actin-like-7B (ACTL7B), from the familial dysautonomia candidate region on 9q31. Genomics. 1999 Jun 15; 58(3):302-9.
journal title abbreviation: Genomics
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Transglutaminase aggregates huntingtin into nonamyloidogenic polymers, and its enzymatic activity increases in Huntington's disease brain nuclei.
PubMed Identifier: 10377424
author list: Karpuj MV, Garren H, Slunt H, Price DL, Gusella J, Becher MW, Steinman L
published in: Proceedings of the National Academy of Sciences of the United States of America
information resource reference: Transglutaminase aggregates huntingtin into nonamyloidogenic polymers, and its enzymatic activity increases in Huntington's disease brain nuclei. Proc Natl Acad Sci U S A. 1999 Jun 22; 96(13):7388-93.
journal title abbreviation: Proc Natl Acad Sci U S A
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Dinucleotide repeat polymorphism at the D9S121 locus (9q31-34).
PubMed Identifier: 1542607
author list: Kwiatkowski DJ, Gusella JF
published in: Nucleic acids research
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journal title abbreviation: Nucleic Acids Res
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The gelsolin (GSN) cDNA clone, from 9q32-34, identifies BclI and StuI RFLPs.
PubMed Identifier: 2567988
author list: Kwiatkowski DJ, Ozelius L, Schuback D, Gusella J, Breakefield XO
published in: Nucleic acids research
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Changing models of biomedical research.
PubMed Identifier: 20368150
author list: Crowley WF, Gusella JF
published in: Science translational medicine
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WDR11, a WD protein that interacts with transcription factor EMX1, is mutated in idiopathic hypogonadotropic hypogonadism and Kallmann syndrome.
PubMed Identifier: 20887964
author list: Kim HG, Ahn JW, Kurth I, Ullmann R, Kim HT, Kulharya A, Ha KS, Itokawa Y, Meliciani I, Wenzel W, Lee D, Rosenberger G, Ozata M, Bick DP, Sherins RJ, Nagase T, Tekin M, Kim SH, Kim CH, Ropers HH, Gusella JF, Kalscheuer V, Choi CY, Layman LC
published in: American journal of human genetics
information resource reference: WDR11, a WD protein that interacts with transcription factor EMX1, is mutated in idiopathic hypogonadotropic hypogonadism and Kallmann syndrome. Am J Hum Genet. 2010 Oct 08; 87(4):465-79.
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Huntington's disease.
PubMed Identifier: 14528049
author list: MacDonald ME, Gines S, Gusella JF, Wheeler VC
published in: Neuromolecular medicine
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journal title abbreviation: Neuromolecular Med
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Rescue of a human mRNA splicing defect by the plant cytokinin kinetin.
PubMed Identifier: 14709595
author list: Slaugenhaupt SA, Mull J, Leyne M, Cuajungco MP, Gill SP, Hims MM, Quintero F, Axelrod FB, Gusella JF
published in: Human molecular genetics
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Huntington disease-linked locus D4S111 exposed as the alpha-L-iduronidase gene.
PubMed Identifier: 1832239
author list: MacDonald ME, Scott HS, Whaley WL, Pohl T, Wasmuth JJ, Lehrach H, Morris CP, Frischauf AM, Hopwood JJ, Gusella JF
published in: Somatic cell and molecular genetics
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Specific progressive cAMP reduction implicates energy deficit in presymptomatic Huntington's disease knock-in mice.
PubMed Identifier: 12588797
author list: Gines S, Seong IS, Fossale E, Ivanova E, Trettel F, Gusella JF, Wheeler VC, Persichetti F, MacDonald ME
published in: Human molecular genetics
information resource reference: Specific progressive cAMP reduction implicates energy deficit in presymptomatic Huntington's disease knock-in mice. Hum Mol Genet. 2003 Mar 01; 12(5):497-508.
journal title abbreviation: Hum Mol Genet
publication date: 2003-03-01T00:00:00
year: 2003
type: Academic Article
type: Article
type: Document
type: Information Resource

A genome scan for modifiers of age at onset in Huntington disease: The HD MAPS study.
PubMed Identifier: 12900792
author list: Li JL, Hayden MR, Almqvist EW, Brinkman RR, Durr A, Dodé C, Morrison PJ, Suchowersky O, Ross CA, Margolis RL, Rosenblatt A, Gómez-Tortosa E, Cabrero DM, Novelletto A, Frontali M, Nance M, Trent RJ, McCusker E, Jones R, Paulsen JS, Harrison M, Zanko A, Abramson RK, Russ AL, Knowlton B, Djoussé L, Mysore JS, Tariot S, Gusella MF, Wheeler VC, Atwood LD, Cupples LA, Saint-Hilaire M, Cha JH, Hersch SM, Koroshetz WJ, Gusella JF, MacDonald ME, Myers RH
published in: American journal of human genetics
information resource reference: A genome scan for modifiers of age at onset in Huntington disease: The HD MAPS study. Am J Hum Genet. 2003 Sep; 73(3):682-7.
journal title abbreviation: Am J Hum Genet
publication date: 2003-08-01T00:00:00
year: 2003
type: Academic Article
type: Article
type: Document
type: Information Resource

Biotin-responsive basal ganglia disease maps to 2q36.3 and is due to mutations in SLC19A3.
PubMed Identifier: 15871139
author list: Zeng WQ, Al-Yamani E, Acierno JS, Slaugenhaupt S, Gillis T, MacDonald ME, Ozand PT, Gusella JF
published in: American journal of human genetics
information resource reference: Biotin-responsive basal ganglia disease maps to 2q36.3 and is due to mutations in SLC19A3. Am J Hum Genet. 2005 Jul; 77(1):16-26.
journal title abbreviation: Am J Hum Genet
publication date: 2005-05-03T00:00:00
year: 2005
type: Academic Article
type: Article
type: Document
type: Information Resource

BanI polymorphism at the XBP1 locus.
PubMed Identifier: 1977120
author list: Fontaine B, Hanson MP, Liou HC, Glimcher LH, Rouleau GA, Gusella JF
published in: Nucleic acids research
information resource reference: BanI polymorphism at the XBP1 locus. Nucleic Acids Res. 1990 Sep 25; 18(18):5578.
journal title abbreviation: Nucleic Acids Res
publication date: 1990-09-25T00:00:00
year: 1990
type: Academic Article
type: Article
type: Document
type: Information Resource

The genomic structure of the human skeletal muscle sodium channel gene.
PubMed Identifier: 1339144
author list: McClatchey AI, Lin CS, Wang J, Hoffman EP, Rojas C, Gusella JF
published in: Human molecular genetics
information resource reference: The genomic structure of the human skeletal muscle sodium channel gene. Hum Mol Genet. 1992 Oct; 1(7):521-7.
journal title abbreviation: Hum Mol Genet
publication date: 1992-10-01T00:00:00
year: 1992
type: Academic Article
type: Article
type: Document
type: Information Resource

Strong allelic association between the torsion dystonia gene (DYT1) andloci on chromosome 9q34 in Ashkenazi Jews.
PubMed Identifier: 1347197
author list: Ozelius LJ, Kramer PL, de Leon D, Risch N, Bressman SB, Schuback DE, Brin MF, Kwiatkowski DJ, Burke RE, Gusella JF
published in: American journal of human genetics
information resource reference: Strong allelic association between the torsion dystonia gene (DYT1) andloci on chromosome 9q34 in Ashkenazi Jews. Am J Hum Genet. 1992 Mar; 50(3):619-28.
journal title abbreviation: Am J Hum Genet
publication date: 1992-03-01T00:00:00
year: 1992
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 986081
type: Authorship
author rank in publication: 69
linked author: Gusella, James
linked information resource: Corrigendum: SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome.

Corrigendum: SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome.
PubMed Identifier: 28546579
author list: Shaw ND, Brand H, Kupchinsky ZA, Bengani H, Plummer L, Jones TI, Erdin S, Williamson KA, Rainger J, Stortchevoi A, Samocha K, Currall BB, Dunican DS, Collins RL, Willer JR, Lek A, Lek M, Nassan M, Pereira S, Kammin T, Lucente D, Silva A, Seabra CM, Chiang C, An Y, Ansari M, Rainger JK, Joss S, Smith JC, Lippincott MF, Singh SS, Patel N, Jing JW, Law JR, Ferraro N, Verloes A, Rauch A, Steindl K, Zweier M, Scheer I, Sato D, Okamoto N, Jacobsen C, Tryggestad J, Chernausek S, Schimmenti LA, Brasseur B, Cesaretti C, García-Ortiz JE, Buitrago TP, Silva OP, Hoffman JD, Mühlbauer W, Ruprecht KW, Loeys BL, Shino M, Kaindl AM, Cho CH, Morton CC, Meehan RR, van Heyningen V, Liao EC, Balasubramanian R, Hall JE, Seminara SB, Macarthur D, Moore SA, Yoshiura KI, Gusella JF, Marsh JA, Graham JM, Lin AE, Katsanis N, Jones PL, Crowley WF, Davis EE, FitzPatrick DR, Talkowski ME
published in: Nature genetics
information resource reference: Corrigendum: SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome. Nat Genet. 2017 05 26; 49(6):969.
journal title abbreviation: Nat Genet
publication date: 2017-05-26T00:00:00
year: 2017
type: Academic Article
type: Article
type: Document
type: Information Resource

Therapeutic potential and mechanism of kinetin as a treatment for the human splicing disease familial dysautonomia.
PubMed Identifier: 17206408
author list: Hims MM, Ibrahim EC, Leyne M, Mull J, Liu L, Lazaro C, Shetty RS, Gill S, Gusella JF, Reed R, Slaugenhaupt SA
published in: Journal of molecular medicine (Berlin, Germany)
information resource reference: Therapeutic potential and mechanism of kinetin as a treatment for the human splicing disease familial dysautonomia. J Mol Med (Berl). 2007 Feb; 85(2):149-61.
journal title abbreviation: J Mol Med (Berl)
publication date: 2007-01-06T00:00:00
year: 2007
type: Academic Article
type: Article
type: Document
type: Information Resource

Association between microdeletion and microduplication at 16p11.2 and autism.
PubMed Identifier: 18184952
author list: Weiss LA, Shen Y, Korn JM, Arking DE, Miller DT, Fossdal R, Saemundsen E, Stefansson H, Ferreira MA, Green T, Platt OS, Ruderfer DM, Walsh CA, Altshuler D, Chakravarti A, Tanzi RE, Stefansson K, Santangelo SL, Gusella JF, Sklar P, Wu BL, Daly MJ
published in: The New England journal of medicine
information resource reference: Association between microdeletion and microduplication at 16p11.2 and autism. N Engl J Med. 2008 Feb 14; 358(7):667-75.
journal title abbreviation: N Engl J Med
publication date: 2008-01-09T00:00:00
year: 2008
type: Academic Article
type: Article
type: Document
type: Information Resource

A genetic map of chromosome 1: comparison of different data sets and linkage programs.
PubMed Identifier: 2365352
author list: Rouleau GA, Bazanowski A, Gusella JF, Haines JL
published in: Genomics
information resource reference: A genetic map of chromosome 1: comparison of different data sets and linkage programs. Genomics. 1990 Jul; 7(3):313-8.
journal title abbreviation: Genomics
publication date: 1990-07-01T00:00:00
year: 1990
type: Academic Article
type: Article
type: Document
type: Information Resource

Genetic linkage studies suggest that Alzheimer's disease is not a single homogeneous disorder.
PubMed Identifier: 2395471
author list: St George-Hyslop PH, Haines JL, Farrer LA, Polinsky R, Van Broeckhoven C, Goate A, McLachlan DR, Orr H, Bruni AC, Sorbi S, Rainero I, Foncin JF, Pollen D, Cantu JM, Tupler R, Voskresenskaya N, Mayeux R, Growden J, Fried VA, Myers RH, Nee L, Backhovens H, Martin JJ, Rossor M, Owen MJ, Mullan M, Percy ME, Karlinsky H, Rich S, Heston L, Montesi M, Mortilla M, Nacmias N, Gusella JF, Hardy JA
published in: Nature
information resource reference: Genetic linkage studies suggest that Alzheimer's disease is not a single homogeneous disorder. Nature. 1990 Sep 13; 347(6289):194-7.
journal title abbreviation: Nature
publication date: 1990-09-13T00:00:00
year: 1990
type: Academic Article
type: Article
type: Document
type: Information Resource

Genomewide association study for susceptibility genes contributing to familial Parkinson disease.
PubMed Identifier: 18985386
author list: Pankratz N, Wilk JB, Latourelle JC, DeStefano AL, Halter C, Pugh EW, Doheny KF, Gusella JF, Nichols WC, Foroud T, Myers RH
published in: Human genetics
information resource reference: Genomewide association study for susceptibility genes contributing to familial Parkinson disease. Hum Genet. 2009 Jan; 124(6):593-605.
journal title abbreviation: Hum Genet
publication date: 2008-11-06T00:00:00
year: 2008
type: Academic Article
type: Article
type: Document
type: Information Resource

The molecular biology of human glial tumors.
PubMed Identifier: 2469150
author list: Martuza RL, Seizinger BR, Jacoby LB, Rouleau GA, Gusella JF
published in: Trends in neurosciences
information resource reference: The molecular biology of human glial tumors. Trends Neurosci. 1988 Jan; 11(1):22-7.
journal title abbreviation: Trends Neurosci
publication date: 1988-01-01T00:00:00
year: 1988
type: Academic Article
type: Article
type: Document
type: Information Resource

Modified single-stranded oligonucleotides inhibit aggregate formation and toxicity induced by expanded polyglutamine.
PubMed Identifier: 15456939
author list: Parekh-Olmedo H, Wang J, Gusella JF, Kmiec EB
published in: Journal of molecular neuroscience : MN
information resource reference: Modified single-stranded oligonucleotides inhibit aggregate formation and toxicity induced by expanded polyglutamine. J Mol Neurosci. 2004; 24(2):257-67.
journal title abbreviation: J Mol Neurosci
publication date: 2004-01-01T00:00:00
year: 2004
type: Academic Article
type: Article
type: Document
type: Information Resource

Genetic criteria for Huntington's disease pathogenesis.
PubMed Identifier: 17352930
author list: Gusella JF, Macdonald M
published in: Brain research bulletin
information resource reference: Genetic criteria for Huntington's disease pathogenesis. Brain Res Bull. 2007 Apr 30; 72(2-3):78-82.
journal title abbreviation: Brain Res Bull
publication date: 2006-11-15T00:00:00
year: 2006
type: Academic Article
type: Article
type: Document
type: Information Resource

Candidate loci for Zimmermann-Laband syndrome at 3p14.3.
PubMed Identifier: 17163523
author list: Kim HG, Higgins AW, Herrick SR, Kishikawa S, Nicholson L, Kutsche K, Ligon AH, Harris DJ, MacDonald ME, Bruns GA, Morton CC, Quade BJ, Gusella JF
published in: American journal of medical genetics. Part A
information resource reference: Candidate loci for Zimmermann-Laband syndrome at 3p14.3. Am J Med Genet A. 2007 Jan 15; 143A(2):107-11.
journal title abbreviation: Am J Med Genet A
publication date: 2007-01-15T00:00:00
year: 2007
type: Academic Article
type: Article
type: Document
type: Information Resource

Is the disruption of an N-myristoyltransferase (NMT2) associated with hypoplastic testes?
PubMed Identifier: 17568424
author list: Quintero-Rivera F, Leach NT, de la Chapelle A, Gusella JF, Morton CC, Harris DJ
published in: American journal of medical genetics. Part A
information resource reference: Is the disruption of an N-myristoyltransferase (NMT2) associated with hypoplastic testes? Am J Med Genet A. 2007 Aug 01; 143A(15):1796-8.
journal title abbreviation: Am J Med Genet A
publication date: 2007-08-01T00:00:00
year: 2007
type: Academic Article
type: Article
type: Document
type: Information Resource

Modeling NF2 with human arachnoidal and meningioma cell culture systems: NF2 silencing reflects the benign character of tumor growth.
PubMed Identifier: 17962031
author list: James MF, Lelke JM, Maccollin M, Plotkin SR, Stemmer-Rachamimov AO, Ramesh V, Gusella JF
published in: Neurobiology of disease
information resource reference: Modeling NF2 with human arachnoidal and meningioma cell culture systems: NF2 silencing reflects the benign character of tumor growth. Neurobiol Dis. 2008 Feb; 29(2):278-92.
journal title abbreviation: Neurobiol Dis
publication date: 2007-09-19T00:00:00
year: 2007
type: Academic Article
type: Article
type: Document
type: Information Resource

The gene (DYT1) for early-onset torsion dystonia encodes a novel protein related to the Clp protease/heat shock family.
PubMed Identifier: 9750906
author list: Ozelius LJ, Hewett JW, Page CE, Bressman SB, Kramer PL, Shalish C, de Leon D, Brin MF, Raymond D, Jacoby D, Penney J, Risch NJ, Fahn S, Gusella JF, Breakefield XO
published in: Advances in neurology
information resource reference: The gene (DYT1) for early-onset torsion dystonia encodes a novel protein related to the Clp protease/heat shock family. Adv Neurol. 1998; 78:93-105.
journal title abbreviation: Adv Neurol
publication date: 1998-01-01T00:00:00
year: 1998
type: Academic Article
type: Article
type: Document
type: Information Resource

Clonal analysis of a case of multiple meningiomas using multiple molecular genetic approaches: pathology case report.
PubMed Identifier: 10449091
author list: Zhu JJ, Maruyama T, Jacoby LB, Herman JG, Gusella JF, Black PM, Wu JK
published in: Neurosurgery
information resource reference: Clonal analysis of a case of multiple meningiomas using multiple molecular genetic approaches: pathology case report. Neurosurgery. 1999 Aug; 45(2):409-16.
journal title abbreviation: Neurosurgery
publication date: 1999-08-01T00:00:00
year: 1999
type: Academic Article
type: Article
type: Document
type: Information Resource

A genetic linkage map of the long arm of human chromosome 22.
PubMed Identifier: 2563348
author list: Rouleau GA, Haines JL, Bazanowski A, Colella-Crowley A, Trofatter JA, Wexler NS, Conneally PM, Gusella JF
published in: Genomics
information resource reference: A genetic linkage map of the long arm of human chromosome 22. Genomics. 1989 Jan; 4(1):1-6.
journal title abbreviation: Genomics
publication date: 1989-01-01T00:00:00
year: 1989
type: Academic Article
type: Article
type: Document
type: Information Resource

Huntingtin facilitates polycomb repressive complex 2.
PubMed Identifier: 19933700
author list: Seong IS, Woda JM, Song JJ, Lloret A, Abeyrathne PD, Woo CJ, Gregory G, Lee JM, Wheeler VC, Walz T, Kingston RE, Gusella JF, Conlon RA, MacDonald ME
published in: Human molecular genetics
information resource reference: Huntingtin facilitates polycomb repressive complex 2. Hum Mol Genet. 2010 Feb 15; 19(4):573-83.
journal title abbreviation: Hum Mol Genet
publication date: 2009-11-23T00:00:00
year: 2009
type: Academic Article
type: Article
type: Document
type: Information Resource

Sequencing chromosomal abnormalities reveals neurodevelopmental loci that confer risk across diagnostic boundaries.
PubMed Identifier: 22521361
author list: Talkowski ME, Rosenfeld JA, Blumenthal I, Pillalamarri V, Chiang C, Heilbut A, Ernst C, Hanscom C, Rossin E, Lindgren AM, Pereira S, Ruderfer D, Kirby A, Ripke S, Harris DJ, Lee JH, Ha K, Kim HG, Solomon BD, Gropman AL, Lucente D, Sims K, Ohsumi TK, Borowsky ML, Loranger S, Quade B, Lage K, Miles J, Wu BL, Shen Y, Neale B, Shaffer LG, Daly MJ, Morton CC, Gusella JF
published in: Cell
information resource reference: Sequencing chromosomal abnormalities reveals neurodevelopmental loci that confer risk across diagnostic boundaries. Cell. 2012 Apr 27; 149(3):525-37.
journal title abbreviation: Cell
publication date: 2012-04-19T00:00:00
year: 2012
type: Academic Article
type: Article
type: Document
type: Information Resource

Linkage of G8 (D4S10) in two Swedish families with Huntington's disease.
PubMed Identifier: 2961484
author list: Holmgren G, Almqvist EW, Anvret M, Conneally M, Hobbs W, Mattsson B, Wahlström J, Winblad B, Gusella JF
published in: Clinical genetics
information resource reference: Linkage of G8 (D4S10) in two Swedish families with Huntington's disease. Clin Genet. 1987 Nov; 32(5):289-94.
journal title abbreviation: Clin Genet
publication date: 1987-11-01T00:00:00
year: 1987
type: Academic Article
type: Article
type: Document
type: Information Resource

Ring chromosome 21: characterization of DNA sequences at sites of breakage and reunion.
PubMed Identifier: 3160292
author list: Kazazian HH, Antonarakis SE, Wong C, Trusko SP, Stetten G, Oliver M, Potter MJ, Gusella JF, Watkins PC
published in: Annals of the New York Academy of Sciences
information resource reference: Ring chromosome 21: characterization of DNA sequences at sites of breakage and reunion. Ann N Y Acad Sci. 1985; 450:33-42.
journal title abbreviation: Ann N Y Acad Sci
publication date: 1985-01-01T00:00:00
year: 1985
type: Academic Article
type: Article
type: Document
type: Information Resource

The direct screening of cosmid libraries with YAC clones.
PubMed Identifier: 1754409
author list: Baxendale S, Bates GP, MacDonald ME, Gusella JF, Lehrach H
published in: Nucleic acids research
information resource reference: The direct screening of cosmid libraries with YAC clones. Nucleic Acids Res. 1991 Dec 11; 19(23):6651.
journal title abbreviation: Nucleic Acids Res
publication date: 1991-12-11T00:00:00
year: 1991
type: Academic Article
type: Article
type: Document
type: Information Resource

Different gene loci for hyperkalemic and hypokalemic periodic paralysis.
PubMed Identifier: 1822800
author list: Fontaine B, Trofatter J, Rouleau GA, Khurana TS, Haines J, Brown R, Gusella JF
published in: Neuromuscular disorders : NMD
information resource reference: Different gene loci for hyperkalemic and hypokalemic periodic paralysis. Neuromuscul Disord. 1991; 1(4):235-8.
journal title abbreviation: Neuromuscul Disord
publication date: 1991-01-01T00:00:00
year: 1991
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 997701
type: Authorship
author rank in publication: 11
linked author: Gusella, James
linked information resource: A novel microduplication of ARID1B: Clinical, genetic, and proteomic findings.

A novel microduplication of ARID1B: Clinical, genetic, and proteomic findings.
PubMed Identifier: 28691782
author list: Seabra CM, Szoko N, Erdin S, Ragavendran A, Stortchevoi A, Maciel P, Lundberg K, Schlatzer D, Smith J, Talkowski ME, Gusella JF, Natowicz MR
published in: American journal of medical genetics. Part A
information resource reference: A novel microduplication of ARID1B: Clinical, genetic, and proteomic findings. Am J Med Genet A. 2017 Sep; 173(9):2478-2484.
journal title abbreviation: Am J Med Genet A
publication date: 2017-07-10T00:00:00
year: 2017
type: Academic Article
type: Article
type: Document
type: Information Resource

NF2 gene analysis distinguishes hemangiopericytoma from meningioma.
PubMed Identifier: 7485407
author list: Joseph JT, Lisle DK, Jacoby LB, Paulus W, Barone R, Cohen ML, Roggendorf WH, Bruner JM, Gusella JF, Louis DN
published in: The American journal of pathology
information resource reference: NF2 gene analysis distinguishes hemangiopericytoma from meningioma. Am J Pathol. 1995 Nov; 147(5):1450-5.
journal title abbreviation: Am J Pathol
publication date: 1995-11-01T00:00:00
year: 1995
type: Academic Article
type: Article
type: Document
type: Information Resource

Induction of erythroid differentiation in vitro by purines and purine analogues.
PubMed Identifier: 971485
author list: Gusella JF, Housman D
published in: Cell
information resource reference: Induction of erythroid differentiation in vitro by purines and purine analogues. Cell. 1976 Jun; 8(2):263-9.
journal title abbreviation: Cell
publication date: 1976-06-01T00:00:00
year: 1976
type: Academic Article
type: Article
type: Document
type: Information Resource

Elastic DNA elements--boon or blight?
PubMed Identifier: 8336758
author list: Gusella JF
published in: The New England journal of medicine
information resource reference: Elastic DNA elements--boon or blight? N Engl J Med. 1993 Aug 19; 329(8):571-2.
journal title abbreviation: N Engl J Med
publication date: 1993-08-19T00:00:00
year: 1993
type: Academic Article
type: Article
type: Document
type: Information Resource

Isolation of polymorphic DNA segments from human chromosome 21.
PubMed Identifier: 4047940
author list: Watkins PC, Tanzi RE, Gibbons KT, Tricoli JV, Landes G, Eddy R, Shows TB, Gusella JF
published in: Nucleic acids research
information resource reference: Isolation of polymorphic DNA segments from human chromosome 21. Nucleic Acids Res. 1985 Sep 11; 13(17):6075-88.
journal title abbreviation: Nucleic Acids Res
publication date: 1985-09-11T00:00:00
year: 1985
type: Academic Article
type: Article
type: Document
type: Information Resource

Physical mapping of a translocation breakpoint in neurofibromatosis.
PubMed Identifier: 2543076
author list: Fountain JW, Wallace MR, Bruce MA, Seizinger BR, Menon AG, Gusella JF, Michels VV, Schmidt MA, Dewald GW, Collins FS
published in: Science (New York, N.Y.)
information resource reference: Physical mapping of a translocation breakpoint in neurofibromatosis. Science. 1989 Jun 02; 244(4908):1085-7.
journal title abbreviation: Science
publication date: 1989-06-02T00:00:00
year: 1989
type: Academic Article
type: Article
type: Document
type: Information Resource

Deletions of NRXN1 (neurexin-1) predispose to a wide spectrum of developmental disorders.
PubMed Identifier: 20468056
author list: Ching MS, Shen Y, Tan WH, Jeste SS, Morrow EM, Chen X, Mukaddes NM, Yoo SY, Hanson E, Hundley R, Austin C, Becker RE, Berry GT, Driscoll K, Engle EC, Friedman S, Gusella JF, Hisama FM, Irons MB, Lafiosca T, LeClair E, Miller DT, Neessen M, Picker JD, Rappaport L, Rooney CM, Sarco DP, Stoler JM, Walsh CA, Wolff RR, Zhang T, Nasir RH, Wu BL
published in: American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics
information resource reference: Deletions of NRXN1 (neurexin-1) predispose to a wide spectrum of developmental disorders. Am J Med Genet B Neuropsychiatr Genet. 2010 Jun 05; 153B(4):937-47.
journal title abbreviation: Am J Med Genet B Neuropsychiatr Genet
publication date: 2010-06-05T00:00:00
year: 2010
type: Academic Article
type: Article
type: Document
type: Information Resource

Genetic linkage studies in autosomal dominant parkinsonism: evaluation of seven candidate genes.
PubMed Identifier: 7915897
author list: Gasser T, Wszolek ZK, Trofatter J, Ozelius L, Uitti RJ, Lee CS, Gusella J, Pfeiffer RF, Calne DB, Breakefield XO
published in: Annals of neurology
information resource reference: Genetic linkage studies in autosomal dominant parkinsonism: evaluation of seven candidate genes. Ann Neurol. 1994 Sep; 36(3):387-96.
journal title abbreviation: Ann Neurol
publication date: 1994-09-01T00:00:00
year: 1994
type: Academic Article
type: Article
type: Document
type: Information Resource

185 Cambridge St
type: Address
address line 1: Massachusetts General Hospital
address line 2: Center for Genomic Medicine
address line 3: 185 Cambridge St
city: Boston
postal code: 02114
state or province: MA

BDNF genetic variants are associated with onset age of familial Parkinson disease: GenePD Study.
PubMed Identifier: 16344533
author list: Karamohamed S, Latourelle JC, Racette BA, Perlmutter JS, Wooten GF, Lew M, Klein C, Shill H, Golbe LI, Mark MH, Guttman M, Nicholson G, Wilk JB, Saint-Hilaire M, DeStefano AL, Prakash R, Tobin S, Williamson J, Suchowersky O, Labell N, Growdon BN, Singer C, Watts R, Goldwurm S, Pezzoli G, Baker KB, Giroux ML, Pramstaller PP, Burn DJ, Chinnery P, Sherman S, Vieregge P, Litvan I, Gusella JF, Myers RH, Parsian A
published in: Neurology
information resource reference: BDNF genetic variants are associated with onset age of familial Parkinson disease: GenePD Study. Neurology. 2005 Dec 13; 65(11):1823-5.
journal title abbreviation: Neurology
publication date: 2005-12-13T00:00:00
year: 2005
type: Academic Article
type: Article
type: Document
type: Information Resource

A genetic linkage map of chromosome 17.
PubMed Identifier: 2081586
author list: Haines JL, Ozelius LJ, McFarlane H, Menon A, Tzall S, Martiniuk F, Hirschhorn R, Gusella JF
published in: Genomics
information resource reference: A genetic linkage map of chromosome 17. Genomics. 1990 Sep; 8(1):1-6.
journal title abbreviation: Genomics
publication date: 1990-09-01T00:00:00
year: 1990
type: Academic Article
type: Article
type: Document
type: Information Resource

Huntington's disease: seeing the pathogenic process through a genetic lens.
PubMed Identifier: 16829072
author list: Gusella JF, MacDonald ME
published in: Trends in biochemical sciences
information resource reference: Huntington's disease: seeing the pathogenic process through a genetic lens. Trends Biochem Sci. 2006 Sep; 31(9):533-40.
journal title abbreviation: Trends Biochem Sci
publication date: 2006-07-10T00:00:00
year: 2006
type: Academic Article
type: Article
type: Document
type: Information Resource

The Nf2 tumor suppressor gene product is essential for extraembryonic development immediately prior to gastrulation.
PubMed Identifier: 9171370
author list: McClatchey AI, Saotome I, Ramesh V, Gusella JF, Jacks T
published in: Genes & development
information resource reference: The Nf2 tumor suppressor gene product is essential for extraembryonic development immediately prior to gastrulation. Genes Dev. 1997 May 15; 11(10):1253-65.
journal title abbreviation: Genes Dev
publication date: 1997-05-15T00:00:00
year: 1997
type: Academic Article
type: Article
type: Document
type: Information Resource

A genetic linkage map of human chromosome 21: analysis of recombination as a function of sex and age.
PubMed Identifier: 1347193
author list: Tanzi RE, Watkins PC, Stewart GD, Wexler NS, Gusella JF, Haines JL
published in: American journal of human genetics
information resource reference: A genetic linkage map of human chromosome 21: analysis of recombination as a function of sex and age. Am J Hum Genet. 1992 Mar; 50(3):551-8.
journal title abbreviation: Am J Hum Genet
publication date: 1992-03-01T00:00:00
year: 1992
type: Academic Article
type: Article
type: Document
type: Information Resource

Lack of evidence for association of meiotic nondisjunction with particular DNA haplotypes on chromosome 21.
PubMed Identifier: 2898783
author list: Sacchi N, Gusella JF, Perroni L, Bricarelli FD, Papas TS
published in: Proceedings of the National Academy of Sciences of the United States of America
information resource reference: Lack of evidence for association of meiotic nondisjunction with particular DNA haplotypes on chromosome 21. Proc Natl Acad Sci U S A. 1988 Jul; 85(13):4794-8.
journal title abbreviation: Proc Natl Acad Sci U S A
publication date: 1988-07-01T00:00:00
year: 1988
type: Academic Article
type: Article
type: Document
type: Information Resource

CAG repeat expansion in Huntington disease determines age at onset in a fully dominant fashion.
PubMed Identifier: 22323755
author list: Lee JM, Ramos EM, Lee JH, Gillis T, Mysore JS, Hayden MR, Warby SC, Morrison P, Nance M, Ross CA, Margolis RL, Squitieri F, Orobello S, Di Donato S, Gomez-Tortosa E, Ayuso C, Suchowersky O, Trent RJ, McCusker E, Novelletto A, Frontali M, Jones R, Ashizawa T, Frank S, Saint-Hilaire MH, Hersch SM, Rosas HD, Lucente D, Harrison MB, Zanko A, Abramson RK, Marder K, Sequeiros J, Paulsen JS, Landwehrmeyer GB, Myers RH, MacDonald ME, Gusella JF
published in: Neurology
information resource reference: CAG repeat expansion in Huntington disease determines age at onset in a fully dominant fashion. Neurology. 2012 Mar 06; 78(10):690-5.
journal title abbreviation: Neurology
publication date: 2012-02-08T00:00:00
year: 2012
type: Academic Article
type: Article
type: Document
type: Information Resource

CAG repeat expansion in Huntington disease determines age at onset in a fully dominant fashion.
PubMed Identifier: 22927682
author list: Aziz NA, Roos RA, Gusella JF, Lee JM, Macdonald ME
published in: Neurology
information resource reference: CAG repeat expansion in Huntington disease determines age at onset in a fully dominant fashion. Neurology. 2012 Aug 28; 79(9):952; author reply 952-3.
journal title abbreviation: Neurology
publication date: 2012-08-28T00:00:00
year: 2012
type: Academic Article
type: Article
type: Document
type: Information Resource

Fine-mapping of restless legs locus 4 (RLS4) identifies a haplotype over the SPATS2L and KCTD18 genes.
PubMed Identifier: 23054586
author list: Pichler I, Schwienbacher C, Zanon A, Fuchsberger C, Serafin A, Facheris MF, Marroni F, Pattaro C, Shen Y, Tellgren-Roth C, Gyllensten U, Gusella JF, Hicks AA, Pramstaller PP
published in: Journal of molecular neuroscience : MN
information resource reference: Fine-mapping of restless legs locus 4 (RLS4) identifies a haplotype over the SPATS2L and KCTD18 genes. J Mol Neurosci. 2013 Mar; 49(3):600-5.
journal title abbreviation: J Mol Neurosci
publication date: 2012-10-02T00:00:00
year: 2012
type: Academic Article
type: Article
type: Document
type: Information Resource

Loss of the NF2 gene and merlin occur by the tumorlet stage of schwannoma development in neurofibromatosis 2.
PubMed Identifier: 9862639
author list: Stemmer-Rachamimov AO, Ino Y, Lim ZY, Jacoby LB, MacCollin M, Gusella JF, Ramesh V, Louis DN
published in: Journal of neuropathology and experimental neurology
information resource reference: Loss of the NF2 gene and merlin occur by the tumorlet stage of schwannoma development in neurofibromatosis 2. J Neuropathol Exp Neurol. 1998 Dec; 57(12):1164-7.
journal title abbreviation: J Neuropathol Exp Neurol
publication date: 1998-12-01T00:00:00
year: 1998
type: Academic Article
type: Article
type: Document
type: Information Resource

Sequence-tagged sites (STSs) for a set of mapped markers on chromosome 21.
PubMed Identifier: 1427866
author list: Tanzi RE, Romano DM, Berger R, Buraczynska MJ, Gaston SM, Kurnit DM, Patterson D, Gusella JF, Stewart GD
published in: Genomics
information resource reference: Sequence-tagged sites (STSs) for a set of mapped markers on chromosome 21. Genomics. 1992 Oct; 14(2):498-502.
journal title abbreviation: Genomics
publication date: 1992-10-01T00:00:00
year: 1992
type: Academic Article
type: Article
type: Document
type: Information Resource

The beta amyloid protein precursor: mRNAs, membrane-associated forms, and soluble derivatives.
PubMed Identifier: 2513588
author list: Palmert MR, Podlisny MB, Golde TE, Cohen ML, Kovacs DM, Tanzi RE, Gusella JF, Whitehouse PJ, Witker DS, Oltersdorf T
published in: Progress in clinical and biological research
information resource reference: The beta amyloid protein precursor: mRNAs, membrane-associated forms, and soluble derivatives. Prog Clin Biol Res. 1989; 317:971-84.
journal title abbreviation: Prog Clin Biol Res
publication date: 1989-01-01T00:00:00
year: 1989
type: Academic Article
type: Article
type: Document
type: Information Resource

Downregulated microRNA-200a in meningiomas promotes tumor growth by reducing E-cadherin and activating the Wnt/beta-catenin signaling pathway.
PubMed Identifier: 19703993
author list: Saydam O, Shen Y, Würdinger T, Senol O, Boke E, James MF, Tannous BA, Stemmer-Rachamimov AO, Yi M, Stephens RM, Fraefel C, Gusella JF, Krichevsky AM, Breakefield XO
published in: Molecular and cellular biology
information resource reference: Downregulated microRNA-200a in meningiomas promotes tumor growth by reducing E-cadherin and activating the Wnt/beta-catenin signaling pathway. Mol Cell Biol. 2009 Nov; 29(21):5923-40.
journal title abbreviation: Mol Cell Biol
publication date: 2009-08-24T00:00:00
year: 2009
type: Academic Article
type: Article
type: Document
type: Information Resource

Meclizine is neuroprotective in models of Huntington's disease.
PubMed Identifier: 20977989
author list: Gohil VM, Offner N, Walker JA, Sheth SA, Fossale E, Gusella JF, MacDonald ME, Neri C, Mootha VK
published in: Human molecular genetics
information resource reference: Meclizine is neuroprotective in models of Huntington's disease. Hum Mol Genet. 2011 Jan 15; 20(2):294-300.
journal title abbreviation: Hum Mol Genet
publication date: 2010-10-25T00:00:00
year: 2010
type: Academic Article
type: Article
type: Document
type: Information Resource

Molecular genetic strategies to investigate Huntington's disease.
PubMed Identifier: 2891255
author list: Gilliam TC, Gusella JF, Lehrach H
published in: Advances in neurology
information resource reference: Molecular genetic strategies to investigate Huntington's disease. Adv Neurol. 1988; 48:17-29.
journal title abbreviation: Adv Neurol
publication date: 1988-01-01T00:00:00
year: 1988
type: Academic Article
type: Article
type: Document
type: Information Resource

Complex reorganization and predominant non-homologous repair following chromosomal breakage in karyotypically balanced germline rearrangements and transgenic integration.
PubMed Identifier: 22388000
author list: Chiang C, Jacobsen JC, Ernst C, Hanscom C, Heilbut A, Blumenthal I, Mills RE, Kirby A, Lindgren AM, Rudiger SR, McLaughlan CJ, Bawden CS, Reid SJ, Faull RL, Snell RG, Hall IM, Shen Y, Ohsumi TK, Borowsky ML, Daly MJ, Lee C, Morton CC, MacDonald ME, Gusella JF, Talkowski ME
published in: Nature genetics
information resource reference: Complex reorganization and predominant non-homologous repair following chromosomal breakage in karyotypically balanced germline rearrangements and transgenic integration. Nat Genet. 2012 Mar 04; 44(4):390-7, S1.
journal title abbreviation: Nat Genet
publication date: 2012-03-04T00:00:00
year: 2012
type: Academic Article
type: Article
type: Document
type: Information Resource

An ovine transgenic Huntington's disease model.
PubMed Identifier: 20154343
author list: Jacobsen JC, Bawden CS, Rudiger SR, McLaughlan CJ, Reid SJ, Waldvogel HJ, MacDonald ME, Gusella JF, Walker SK, Kelly JM, Webb GC, Faull RL, Rees MI, Snell RG
published in: Human molecular genetics
information resource reference: An ovine transgenic Huntington's disease model. Hum Mol Genet. 2010 May 15; 19(10):1873-82.
journal title abbreviation: Hum Mol Genet
publication date: 2010-02-13T00:00:00
year: 2010
type: Academic Article
type: Article
type: Document
type: Information Resource

Age- and gender-dependent obesity in individuals with 16p11.2 deletion.
PubMed Identifier: 21930099
author list: Yu Y, Zhu H, Miller DT, Gusella JF, Platt OS, Wu BL, Shen Y
published in: Journal of genetics and genomics = Yi chuan xue bao
information resource reference: Age- and gender-dependent obesity in individuals with 16p11.2 deletion. J Genet Genomics. 2011 Sep 20; 38(9):403-9.
journal title abbreviation: J Genet Genomics
publication date: 2011-08-17T00:00:00
year: 2011
type: Academic Article
type: Article
type: Document
type: Information Resource

Regional localization of DNA sequences on chromosome 21 using somatic cell hybrids.
PubMed Identifier: 3014865
author list: Van Keuren ML, Watkins PC, Drabkin HA, Jabs EW, Gusella JF, Patterson D
published in: American journal of human genetics
information resource reference: Regional localization of DNA sequences on chromosome 21 using somatic cell hybrids. Am J Hum Genet. 1986 Jun; 38(6):793-804.
journal title abbreviation: Am J Hum Genet
publication date: 1986-06-01T00:00:00
year: 1986
type: Academic Article
type: Article
type: Document
type: Information Resource

Models for inherited susceptibility to cancer in the nervous system: a molecular-genetic approach to neurofibromatosis.
PubMed Identifier: 3119309
author list: Seizinger BR, Martuza RL, Rouleau G, Breakefield XO, Gusella JF
published in: Developmental neuroscience
information resource reference: Models for inherited susceptibility to cancer in the nervous system: a molecular-genetic approach to neurofibromatosis. Dev Neurosci. 1987; 9(3):144-53.
journal title abbreviation: Dev Neurosci
publication date: 1987-01-01T00:00:00
year: 1987
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 1005711
type: Authorship
author rank in publication: 14
linked author: Gusella, James
linked information resource: Haplotype-based stratification of Huntington's disease.

Haplotype-based stratification of Huntington's disease.
PubMed Identifier: 28832564
author list: Chao MJ, Gillis T, Atwal RS, Mysore JS, Arjomand J, Harold D, Holmans P, Jones L, Orth M, Myers RH, Kwak S, Wheeler VC, MacDonald ME, Gusella JF, Lee JM
published in: European journal of human genetics : EJHG
information resource reference: Haplotype-based stratification of Huntington's disease. Eur J Hum Genet. 2017 11; 25(11):1202-1209.
journal title abbreviation: Eur J Hum Genet
publication date: 2017-08-23T00:00:00
year: 2017
type: Academic Article
type: Article
type: Document
type: Information Resource

Genomic profiling distinguishes familial multiple and sporadic multiple meningiomas.
PubMed Identifier: 19589153
author list: Shen Y, Nunes F, Stemmer-Rachamimov A, James M, Mohapatra G, Plotkin S, Betensky RA, Engler DA, Roy J, Ramesh V, Gusella JF
published in: BMC medical genomics
information resource reference: Genomic profiling distinguishes familial multiple and sporadic multiple meningiomas. BMC Med Genomics. 2009 Jul 09; 2:42.
journal title abbreviation: BMC Med Genomics
publication date: 2009-07-09T00:00:00
year: 2009
type: Academic Article
type: Article
type: Document
type: Information Resource

Exclusion of autosomal dominant dystonia gene from large regions of chromosomes 11p, 13q, and 21q by multi-point linkage analysis.
PubMed Identifier: 3692135
author list: Kramer PL, Ozelius L, Gusella JF, Fahn S, Kidd KK, Breakefield XO
published in: Genetic epidemiology
information resource reference: Exclusion of autosomal dominant dystonia gene from large regions of chromosomes 11p, 13q, and 21q by multi-point linkage analysis. Genet Epidemiol. 1987; 4(5):377-86.
journal title abbreviation: Genet Epidemiol
publication date: 1987-01-01T00:00:00
year: 1987
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 1009086
type: Authorship
author rank in publication: 11
linked author: Gusella, James
linked information resource: WNT/ß-Catenin Pathway and Epigenetic Mechanisms Regulate the Pitt-Hopkins Syndrome and Schizophrenia Risk Gene TCF4.

WNT/ß-Catenin Pathway and Epigenetic Mechanisms Regulate the Pitt-Hopkins Syndrome and Schizophrenia Risk Gene TCF4.
PubMed Identifier: 28879201
author list: Hennig KM, Fass DM, Zhao WN, Sheridan SD, Fu T, Erdin S, Stortchevoi A, Lucente D, Cody JD, Sweetser D, Gusella JF, Talkowski ME, Haggarty SJ
published in: Molecular neuropsychiatry
information resource reference: WNT/ß-Catenin Pathway and Epigenetic Mechanisms Regulate the Pitt-Hopkins Syndrome and Schizophrenia Risk Gene TCF4. Mol Neuropsychiatry. 2017 Jul; 3(1):53-71.
journal title abbreviation: Mol Neuropsychiatry
publication date: 2017-07-14T00:00:00
year: 2017
type: Academic Article
type: Article
type: Document
type: Information Resource

Neuropathology and molecular genetics of neurofibromatosis 2 and related tumors.
PubMed Identifier: 7670657
author list: Louis DN, Ramesh V, Gusella JF
published in: Brain pathology (Zurich, Switzerland)
information resource reference: Neuropathology and molecular genetics of neurofibromatosis 2 and related tumors. Brain Pathol. 1995 Apr; 5(2):163-72.
journal title abbreviation: Brain Pathol
publication date: 1995-04-01T00:00:00
year: 1995
type: Academic Article
type: Article
type: Document
type: Information Resource

Trinucleotide repeat length and progression of illness in Huntington's disease.
PubMed Identifier: 7853373
author list: Kieburtz K, MacDonald M, Shih C, Feigin A, Steinberg K, Bordwell K, Zimmerman C, Srinidhi J, Sotack J, Gusella J
published in: Journal of medical genetics
information resource reference: Trinucleotide repeat length and progression of illness in Huntington's disease. J Med Genet. 1994 Nov; 31(11):872-4.
journal title abbreviation: J Med Genet
publication date: 1994-11-01T00:00:00
year: 1994
type: Academic Article
type: Article
type: Document
type: Information Resource

The murine NF2 homologue encodes a highly conserved merlin protein with alternative forms.
PubMed Identifier: 8012352
author list: Haase VH, Trofatter JA, MacCollin M, Tarttelin E, Gusella JF, Ramesh V
published in: Human molecular genetics
information resource reference: The murine NF2 homologue encodes a highly conserved merlin protein with alternative forms. Hum Mol Genet. 1994 Mar; 3(3):407-11.
journal title abbreviation: Hum Mol Genet
publication date: 1994-03-01T00:00:00
year: 1994
type: Academic Article
type: Article
type: Document
type: Information Resource

Molecular genetics of pediatric brain stem gliomas. Application of PCR techniques to small and archival brain tumor specimens.
PubMed Identifier: 8103086
author list: Louis DN, Rubio MP, Correa KM, Gusella JF, von Deimling A
published in: Journal of neuropathology and experimental neurology
information resource reference: Molecular genetics of pediatric brain stem gliomas. Application of PCR techniques to small and archival brain tumor specimens. J Neuropathol Exp Neurol. 1993 Sep; 52(5):507-15.
journal title abbreviation: J Neuropathol Exp Neurol
publication date: 1993-09-01T00:00:00
year: 1993
type: Academic Article
type: Article
type: Document
type: Information Resource

Distribution of trinucleotide repeat sequences across a 2 Mbp region containing the Huntington's disease gene.
PubMed Identifier: 8162055
author list: Hummerich H, Baxendale S, Mott R, Kirby SF, MacDonald ME, Gusella J, Lehrach H, Bates GP
published in: Human molecular genetics
information resource reference: Distribution of trinucleotide repeat sequences across a 2 Mbp region containing the Huntington's disease gene. Hum Mol Genet. 1994 Jan; 3(1):73-8.
journal title abbreviation: Hum Mol Genet
publication date: 1994-01-01T00:00:00
year: 1994
type: Academic Article
type: Article
type: Document
type: Information Resource

CEPH consortium Map of chromosome 9.
PubMed Identifier: 8188250
author list: Attwood J, Chiano M, Collins A, Donis-Keller H, Dracopoli N, Fountain J, Falk C, Goudie D, Gusella J, Haines J
published in: Genomics
information resource reference: CEPH consortium Map of chromosome 9. Genomics. 1994 Jan 15; 19(2):203-14.
journal title abbreviation: Genomics
publication date: 1994-01-15T00:00:00
year: 1994
type: Academic Article
type: Article
type: Document
type: Information Resource

A complete genomic screen for multiple sclerosis underscores a role for the major histocompatability complex. The Multiple Sclerosis Genetics Group.
PubMed Identifier: 8696344
author list: Haines JL, Ter-Minassian M, Bazyk A, Gusella JF, Kim DJ, Terwedow H, Pericak-Vance MA, Rimmler JB, Haynes CS, Roses AD, Lee A, Shaner B, Menold M, Seboun E, Fitoussi RP, Gartioux C, Reyes C, Ribierre F, Gyapay G, Weissenbach J, Hauser SL, Goodkin DE, Lincoln R, Usuku K, Oksenberg JR
published in: Nature genetics
information resource reference: A complete genomic screen for multiple sclerosis underscores a role for the major histocompatability complex. The Multiple Sclerosis Genetics Group. Nat Genet. 1996 Aug; 13(4):469-71.
journal title abbreviation: Nat Genet
publication date: 1996-08-01T00:00:00
year: 1996
type: Academic Article
type: Article
type: Document
type: Information Resource

A RsaI polymorphism in the ERCC2 locus.
PubMed Identifier: 1363878
author list: von Deimling A, von Deimling F, Louis DN, Trofatter J, Gusella JF, Seizinger BR
published in: Human molecular genetics
information resource reference: A RsaI polymorphism in the ERCC2 locus. Hum Mol Genet. 1992 Aug; 1(5):355.
journal title abbreviation: Hum Mol Genet
publication date: 1992-08-01T00:00:00
year: 1992
type: Academic Article
type: Article
type: Document
type: Information Resource

The telomeric 60 kb of chromosome arm 4p is homologous to telomeric regions on 13p, 15p, 21p, and 22p.
PubMed Identifier: 1427851
author list: Youngman S, Bates GP, Williams S, McClatchey AI, Baxendale S, Sedlacek Z, Altherr M, Wasmuth JJ, MacDonald ME, Gusella JF
published in: Genomics
information resource reference: The telomeric 60 kb of chromosome arm 4p is homologous to telomeric regions on 13p, 15p, 21p, and 22p. Genomics. 1992 Oct; 14(2):350-6.
journal title abbreviation: Genomics
publication date: 1992-10-01T00:00:00
year: 1992
type: Academic Article
type: Article
type: Document
type: Information Resource

Serial changes of cerebral glucose metabolism and caudate size in persons at risk for Huntington's disease.
PubMed Identifier: 1444883
author list: Grafton ST, Mazziotta JC, Pahl JJ, St George-Hyslop P, Haines JL, Gusella J, Hoffman JM, Baxter LR, Phelps ME
published in: Archives of neurology
information resource reference: Serial changes of cerebral glucose metabolism and caudate size in persons at risk for Huntington's disease. Arch Neurol. 1992 Nov; 49(11):1161-7.
journal title abbreviation: Arch Neurol
publication date: 1992-11-01T00:00:00
year: 1992
type: Academic Article
type: Article
type: Document
type: Information Resource

Dinucleotide repeat polymorphism at the D9S115 locus (9q31-34).
PubMed Identifier: 1542601
author list: Kwiatkowski DJ, Gusella JF
published in: Nucleic acids research
information resource reference: Dinucleotide repeat polymorphism at the D9S115 locus (9q31-34). Nucleic Acids Res. 1992 Feb 25; 20(4):930.
journal title abbreviation: Nucleic Acids Res
publication date: 1992-02-25T00:00:00
year: 1992
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 1010223
type: Authorship
author rank in publication: 14
linked author: Gusella, James
linked information resource: Inhibition of p25/Cdk5 Attenuates Tauopathy in Mouse and iPSC Models of Frontotemporal Dementia.

Inhibition of p25/Cdk5 Attenuates Tauopathy in Mouse and iPSC Models of Frontotemporal Dementia.
PubMed Identifier: 28912154
author list: Seo J, Kritskiy O, Watson LA, Barker SJ, Dey D, Raja WK, Lin YT, Ko T, Cho S, Penney J, Silva MC, Sheridan SD, Lucente D, Gusella JF, Dickerson BC, Haggarty SJ, Tsai LH
published in: The Journal of neuroscience : the official journal of the Society for Neuroscience
information resource reference: Inhibition of p25/Cdk5 Attenuates Tauopathy in Mouse and iPSC Models of Frontotemporal Dementia. J Neurosci. 2017 10 11; 37(41):9917-9924.
journal title abbreviation: J Neurosci
publication date: 2017-09-14T00:00:00
year: 2017
type: Academic Article
type: Article
type: Document
type: Information Resource

Linkage analysis in juvenile neuronal ceroid lipofuscinosis.
PubMed Identifier: 1609835
author list: Haines JL, Yan WL, Boustany RM, Jewell A, Julier C, Breakefield XO, Gusella JF
published in: American journal of medical genetics
information resource reference: Linkage analysis in juvenile neuronal ceroid lipofuscinosis. Am J Med Genet. 1992 Feb 15; 42(4):542-5.
journal title abbreviation: Am J Med Genet
publication date: 1992-02-15T00:00:00
year: 1992
type: Academic Article
type: Article
type: Document
type: Information Resource

Equal parental origin of chromosome 22 losses in human sporadic meningioma: no evidence for genomic imprinting.
PubMed Identifier: 2220822
author list: Fontaine B, Rouleau GA, Seizinger B, Jewell AF, Hanson MP, Martuza RL, Gusella JF
published in: American journal of human genetics
information resource reference: Equal parental origin of chromosome 22 losses in human sporadic meningioma: no evidence for genomic imprinting. Am J Hum Genet. 1990 Nov; 47(5):823-7.
journal title abbreviation: Am J Hum Genet
publication date: 1990-11-01T00:00:00
year: 1990
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 1013074
type: Authorship
author rank in publication: 13
linked author: Gusella, James
linked information resource: A modifier of Huntington's disease onset at the MLH1 locus.

A modifier of Huntington's disease onset at the MLH1 locus.
PubMed Identifier: 28934397
author list: Lee JM, Chao MJ, Harold D, Abu Elneel K, Gillis T, Holmans P, Jones L, Orth M, Myers RH, Kwak S, Wheeler VC, MacDonald ME, Gusella JF
published in: Human molecular genetics
information resource reference: A modifier of Huntington's disease onset at the MLH1 locus. Hum Mol Genet. 2017 10 01; 26(19):3859-3867.
journal title abbreviation: Hum Mol Genet
publication date: 2017-10-01T00:00:00
year: 2017
type: Academic Article
type: Article
type: Document
type: Information Resource

Microdeletion/duplication at 15q13.2q13.3 among individuals with features of autism and other neuropsychiatric disorders.
PubMed Identifier: 18805830
author list: Miller DT, Shen Y, Weiss LA, Korn J, Anselm I, Bridgemohan C, Cox GF, Dickinson H, Gentile J, Harris DJ, Hegde V, Hundley R, Khwaja O, Kothare S, Luedke C, Nasir R, Poduri A, Prasad K, Raffalli P, Reinhard A, Smith SE, Sobeih MM, Soul JS, Stoler J, Takeoka M, Tan WH, Thakuria J, Wolff R, Yusupov R, Gusella JF, Daly MJ, Wu BL
published in: Journal of medical genetics
information resource reference: Microdeletion/duplication at 15q13.2q13.3 among individuals with features of autism and other neuropsychiatric disorders. J Med Genet. 2009 Apr; 46(4):242-8.
journal title abbreviation: J Med Genet
publication date: 2008-09-19T00:00:00
year: 2008
type: Academic Article
type: Article
type: Document
type: Information Resource

Clinical genetic testing for patients with autism spectrum disorders.
PubMed Identifier: 20231187
author list: Shen Y, Dies KA, Holm IA, Bridgemohan C, Sobeih MM, Caronna EB, Miller KJ, Frazier JA, Silverstein I, Picker J, Weissman L, Raffalli P, Jeste S, Demmer LA, Peters HK, Brewster SJ, Kowalczyk SJ, Rosen-Sheidley B, McGowan C, Duda AW, Lincoln SA, Lowe KR, Schonwald A, Robbins M, Hisama F, Wolff R, Becker R, Nasir R, Urion DK, Milunsky JM, Rappaport L, Gusella JF, Walsh CA, Wu BL, Miller DT
published in: Pediatrics
information resource reference: Clinical genetic testing for patients with autism spectrum disorders. Pediatrics. 2010 Apr; 125(4):e727-35.
journal title abbreviation: Pediatrics
publication date: 2010-03-15T00:00:00
year: 2010
type: Academic Article
type: Article
type: Document
type: Information Resource

Prevalence of incompletely penetrant Huntington's disease alleles among individuals with major depressive disorder.
PubMed Identifier: 20360314
author list: Perlis RH, Smoller JW, Mysore J, Sun M, Gillis T, Purcell S, Rietschel M, Nöthen MM, Witt S, Maier W, Iosifescu DV, Sullivan P, Rush AJ, Fava M, Breiter H, Macdonald M, Gusella J
published in: The American journal of psychiatry
information resource reference: Prevalence of incompletely penetrant Huntington's disease alleles among individuals with major depressive disorder. Am J Psychiatry. 2010 May; 167(5):574-9.
journal title abbreviation: Am J Psychiatry
publication date: 2010-04-01T00:00:00
year: 2010
type: Academic Article
type: Article
type: Document
type: Information Resource

Gamma-glutamyl transferase locus (GGT) displays a PvuII polymorphism.
PubMed Identifier: 2905445
author list: Rouleau GA, Bazanowski A, Cohen EH, Guellaen G, Gusella JF
published in: Nucleic acids research
information resource reference: Gamma-glutamyl transferase locus (GGT) displays a PvuII polymorphism. Nucleic Acids Res. 1988 Dec 23; 16(24):11848.
journal title abbreviation: Nucleic Acids Res
publication date: 1988-12-23T00:00:00
year: 1988
type: Academic Article
type: Article
type: Document
type: Information Resource

No association between alpha 1-antichymotrypsin and familial Alzheimer's disease.
PubMed Identifier: 8993482
author list: Haines JL, Pritchard ML, Saunders AM, Schildkraut JM, Growdon JH, Gaskell PC, Farrer LA, Auerbach SA, Gusella JF, Locke PA, Rosi BL, Yamaoka L, Small GW, Conneally PM, Roses AD, Pericak-Vance M
published in: Annals of the New York Academy of Sciences
information resource reference: No association between alpha 1-antichymotrypsin and familial Alzheimer's disease. Ann N Y Acad Sci. 1996 Dec 16; 802:35-41.
journal title abbreviation: Ann N Y Acad Sci
publication date: 1996-12-16T00:00:00
year: 1996
type: Academic Article
type: Article
type: Document
type: Information Resource

Reduced penetrance of the Huntington's disease mutation.
PubMed Identifier: 9158152
author list: McNeil SM, Novelletto A, Srinidhi J, Barnes G, Kornbluth I, Altherr MR, Wasmuth JJ, Gusella JF, MacDonald ME, Myers RH
published in: Human molecular genetics
information resource reference: Reduced penetrance of the Huntington's disease mutation. Hum Mol Genet. 1997 May; 6(5):775-9.
journal title abbreviation: Hum Mol Genet
publication date: 1997-05-01T00:00:00
year: 1997
type: Academic Article
type: Article
type: Document
type: Information Resource

A linkage map of three anonymous human DNA fragments and SOD-1 on chromosome 21.
PubMed Identifier: 3000767
author list: Kittur SD, Antonarakis SE, Tanzi RE, Meyers DA, Chakravarti A, Groner Y, Phillips JA, Watkins PC, Gusella JF, Kazazian HH
published in: The EMBO journal
information resource reference: A linkage map of three anonymous human DNA fragments and SOD-1 on chromosome 21. EMBO J. 1985 Sep; 4(9):2257-60.
journal title abbreviation: EMBO J
publication date: 1985-09-01T00:00:00
year: 1985
type: Academic Article
type: Article
type: Document
type: Information Resource

Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminus.
PubMed Identifier: 23332918
author list: Beunders G, Voorhoeve E, Golzio C, Pardo LM, Rosenfeld JA, Talkowski ME, Simonic I, Lionel AC, Vergult S, Pyatt RE, van de Kamp J, Nieuwint A, Weiss MM, Rizzu P, Verwer LE, van Spaendonk RM, Shen Y, Wu BL, Yu T, Yu Y, Chiang C, Gusella JF, Lindgren AM, Morton CC, van Binsbergen E, Bulk S, van Rossem E, Vanakker O, Armstrong R, Park SM, Greenhalgh L, Maye U, Neill NJ, Abbott KM, Sell S, Ladda R, Farber DM, Bader PI, Cushing T, Drautz JM, Konczal L, Nash P, de Los Reyes E, Carter MT, Hopkins E, Marshall CR, Osborne LR, Gripp KW, Thrush DL, Hashimoto S, Gastier-Foster JM, Astbury C, Ylstra B, Meijers-Heijboer H, Posthuma D, Menten B, Mortier G, Scherer SW, Eichler EE, Girirajan S, Katsanis N, Groffen AJ, Sistermans EA
published in: American journal of human genetics
information resource reference: Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminus. Am J Hum Genet. 2013 Feb 07; 92(2):210-20.
journal title abbreviation: Am J Hum Genet
publication date: 2013-01-17T00:00:00
year: 2013
type: Academic Article
type: Article
type: Document
type: Information Resource

Common pathogenetic mechanism for three tumor types in bilateral acoustic neurofibromatosis.
PubMed Identifier: 3105060
author list: Seizinger BR, Rouleau G, Ozelius LJ, Lane AH, St George-Hyslop P, Huson S, Gusella JF, Martuza RL
published in: Science (New York, N.Y.)
information resource reference: Common pathogenetic mechanism for three tumor types in bilateral acoustic neurofibromatosis. Science. 1987 Apr 17; 236(4799):317-9.
journal title abbreviation: Science
publication date: 1987-04-17T00:00:00
year: 1987
type: Academic Article
type: Article
type: Document
type: Information Resource

Huntington's disease.
PubMed Identifier: 7620118
author list: Gusella JF, MacDonald ME
published in: Seminars in cell biology
information resource reference: Huntington's disease. Semin Cell Biol. 1995 Feb; 6(1):21-8.
journal title abbreviation: Semin Cell Biol
publication date: 1995-02-01T00:00:00
year: 1995
type: Academic Article
type: Article
type: Document
type: Information Resource

Mouse neurofibromatosis type 1 cDNA sequence reveals high degree of conservation of both coding and non-coding mRNA segments.
PubMed Identifier: 8353485
author list: Bernards A, Snijders AJ, Hannigan GE, Murthy AE, Gusella JF
published in: Human molecular genetics
information resource reference: Mouse neurofibromatosis type 1 cDNA sequence reveals high degree of conservation of both coding and non-coding mRNA segments. Hum Mol Genet. 1993 Jun; 2(6):645-50.
journal title abbreviation: Hum Mol Genet
publication date: 1993-06-01T00:00:00
year: 1993
type: Academic Article
type: Article
type: Document
type: Information Resource

Neurofibromatosis type 1 gene mutations in neuroblastoma.
PubMed Identifier: 8490657
author list: The I, Murthy AE, Hannigan GE, Jacoby LB, Menon AG, Gusella JF, Bernards A
published in: Nature genetics
information resource reference: Neurofibromatosis type 1 gene mutations in neuroblastoma. Nat Genet. 1993 Jan; 3(1):62-6.
journal title abbreviation: Nat Genet
publication date: 1993-01-01T00:00:00
year: 1993
type: Academic Article
type: Article
type: Document
type: Information Resource

Cloning of a highly conserved human protein serine-threonine phosphatase gene from the glioma candidate region on chromosome 19q13.3.
PubMed Identifier: 8666404
author list: Yong WH, Ueki K, Chou D, Reeves SA, von Deimling A, Gusella JF, Mohrenweiser HW, Buckler AJ, Louis DN
published in: Genomics
information resource reference: Cloning of a highly conserved human protein serine-threonine phosphatase gene from the glioma candidate region on chromosome 19q13.3. Genomics. 1995 Sep 20; 29(2):533-6.
journal title abbreviation: Genomics
publication date: 1995-09-20T00:00:00
year: 1995
type: Academic Article
type: Article
type: Document
type: Information Resource

Molecular detection of a 4p deletion using PCR-based polymorphisms: a technique for the rapid detection of the Wolf-Hirschhorn syndrome.
PubMed Identifier: 1442886
author list: Altherr MR, Gusella JF, Wasmuth JJ, Kummer MA, McKercher SW, Johnson VP
published in: American journal of medical genetics
information resource reference: Molecular detection of a 4p deletion using PCR-based polymorphisms: a technique for the rapid detection of the Wolf-Hirschhorn syndrome. Am J Med Genet. 1992 Nov 01; 44(4):449-54.
journal title abbreviation: Am J Med Genet
publication date: 1992-11-01T00:00:00
year: 1992
type: Academic Article
type: Article
type: Document
type: Information Resource

Cloning, mapping, and expression of a novel brain-specific transcript in the familial dysautonomia candidate region on chromosome 9q31.
PubMed Identifier: 10603000
author list: Chadwick BP, Leyne M, Gill S, Liebert CB, Mull J, Mezey E, Robbins CM, Pinkett HW, Makalowska I, Maayan C, Blumenfeld A, Axelrod FB, Brownstein M, Gusella JF, Slaugenhaupt SA
published in: Mammalian genome : official journal of the International Mammalian Genome Society
information resource reference: Cloning, mapping, and expression of a novel brain-specific transcript in the familial dysautonomia candidate region on chromosome 9q31. Mamm Genome. 2000 Jan; 11(1):81-3.
journal title abbreviation: Mamm Genome
publication date: 2000-01-01T00:00:00
year: 2000
type: Academic Article
type: Article
type: Document
type: Information Resource

A region of deletion on chromosome 22q13 is common to human breast and colorectal cancers.
PubMed Identifier: 10850424
author list: Castells A, Gusella JF, Ramesh V, Rustgi AK
published in: Cancer research
information resource reference: A region of deletion on chromosome 22q13 is common to human breast and colorectal cancers. Cancer Res. 2000 Jun 01; 60(11):2836-9.
journal title abbreviation: Cancer Res
publication date: 2000-06-01T00:00:00
year: 2000
type: Academic Article
type: Article
type: Document
type: Information Resource

Dinucleotide repeat polymorphism at the D9S118 locus (9q31-34).
PubMed Identifier: 1542604
author list: Kwiatkowski DJ, Gusella JF
published in: Nucleic acids research
information resource reference: Dinucleotide repeat polymorphism at the D9S118 locus (9q31-34). Nucleic Acids Res. 1992 Feb 25; 20(4):932.
journal title abbreviation: Nucleic Acids Res
publication date: 1992-02-25T00:00:00
year: 1992
type: Academic Article
type: Article
type: Document
type: Information Resource

The predominantly HEAT-like motif structure of huntingtin and its association and coincident nuclear entry with dorsal, an NF-kB/Rel/dorsal family transcription factor.
PubMed Identifier: 12379151
author list: Takano H, Gusella JF
published in: BMC neuroscience
information resource reference: The predominantly HEAT-like motif structure of huntingtin and its association and coincident nuclear entry with dorsal, an NF-kB/Rel/dorsal family transcription factor. BMC Neurosci. 2002 Oct 14; 3:15.
journal title abbreviation: BMC Neurosci
publication date: 2002-10-14T00:00:00
year: 2002
type: Academic Article
type: Article
type: Document
type: Information Resource

Candidate DNA replication initiation regions at human trinucleotide repeat disease loci.
PubMed Identifier: 12700170
author list: Nenguke T, Aladjem MI, Gusella JF, Wexler NS, Arnheim N
published in: Human molecular genetics
information resource reference: Candidate DNA replication initiation regions at human trinucleotide repeat disease loci. Hum Mol Genet. 2003 May 01; 12(9):1021-8.
journal title abbreviation: Hum Mol Genet
publication date: 2003-05-01T00:00:00
year: 2003
type: Academic Article
type: Article
type: Document
type: Information Resource

Molecular genetics of Alzheimer disease amyloid.
PubMed Identifier: 1939107
author list: Tanzi RE, George-Hyslop PS, Gusella JF
published in: The Journal of biological chemistry
information resource reference: Molecular genetics of Alzheimer disease amyloid. J Biol Chem. 1991 Nov 05; 266(31):20579-82.
journal title abbreviation: J Biol Chem
publication date: 1991-11-05T00:00:00
year: 1991
type: Academic Article
type: Article
type: Document
type: Information Resource

A comparison of neurological, metabolic, structural, and genetic evaluations in persons at risk for Huntington's disease.
PubMed Identifier: 1979723
author list: Grafton ST, Mazziotta JC, Pahl JJ, St George-Hyslop P, Haines JL, Gusella J, Hoffman JM, Baxter LR, Phelps ME
published in: Annals of neurology
information resource reference: A comparison of neurological, metabolic, structural, and genetic evaluations in persons at risk for Huntington's disease. Ann Neurol. 1990 Nov; 28(5):614-21.
journal title abbreviation: Ann Neurol
publication date: 1990-11-01T00:00:00
year: 1990
type: Academic Article
type: Article
type: Document
type: Information Resource

MboI RFLP at the D4S43 (C4H) locus.
PubMed Identifier: 1681512
author list: Lazarou LP, Snell RG, MacDonald ME, Gusella JF, Wasmuth JJ, Shaw DJ
published in: Nucleic acids research
information resource reference: MboI RFLP at the D4S43 (C4H) locus. Nucleic Acids Res. 1991 Oct 11; 19(19):5445.
journal title abbreviation: Nucleic Acids Res
publication date: 1991-10-11T00:00:00
year: 1991
type: Academic Article
type: Article
type: Document
type: Information Resource

Venezuelan kindreds reveal that genetic and environmental factors modulate Huntington's disease age of onset.
PubMed Identifier: 14993615
author list: Wexler NS, Lorimer J, Porter J, Gomez F, Moskowitz C, Shackell E, Marder K, Penchaszadeh G, Roberts SA, Gayán J, Brocklebank D, Cherny SS, Cardon LR, Gray J, Dlouhy SR, Wiktorski S, Hodes ME, Conneally PM, Penney JB, Gusella J, Cha JH, Irizarry M, Rosas D, Hersch S, Hollingsworth Z, MacDonald M, Young AB, Andresen JM, Housman DE, De Young MM, Bonilla E, Stillings T, Negrette A, Snodgrass SR, Martinez-Jaurrieta MD, Ramos-Arroyo MA, Bickham J, Ramos JS, Marshall F, Shoulson I, Rey GJ, Feigin A, Arnheim N, Acevedo-Cruz A, Acosta L, Alvir J, Fischbeck K, Thompson LM, Young A, Dure L, O'Brien CJ, Paulsen J, Brickman A, Krch D, Peery S, Hogarth P, Higgins DS, Landwehrmeyer B
published in: Proceedings of the National Academy of Sciences of the United States of America
information resource reference: Venezuelan kindreds reveal that genetic and environmental factors modulate Huntington's disease age of onset. Proc Natl Acad Sci U S A. 2004 Mar 09; 101(10):3498-503.
journal title abbreviation: Proc Natl Acad Sci U S A
publication date: 2004-03-01T00:00:00
year: 2004
type: Academic Article
type: Article
type: Document
type: Information Resource

Molecular genetics of neurofibromatosis 2 and related tumors (acoustic neuroma and meningioma).
PubMed Identifier: 2039155
author list: Fontaine B, Rouleau GA, Seizinger BR, Menon AG, Jewell AF, Martuza RL, Gusella JF
published in: Annals of the New York Academy of Sciences
information resource reference: Molecular genetics of neurofibromatosis 2 and related tumors (acoustic neuroma and meningioma). Ann N Y Acad Sci. 1991; 615:338-43.
journal title abbreviation: Ann N Y Acad Sci
publication date: 1991-01-01T00:00:00
year: 1991
type: Academic Article
type: Article
type: Document
type: Information Resource

Progress towards the isolation and characterization of the genes causing neurofibromatosis.
PubMed Identifier: 2129297
author list: Menon AG, Gusella JF, Seizinger BR
published in: Cancer surveys
information resource reference: Progress towards the isolation and characterization of the genes causing neurofibromatosis. Cancer Surv. 1990; 9(4):689-702.
journal title abbreviation: Cancer Surv
publication date: 1990-01-01T00:00:00
year: 1990
type: Academic Article
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type: Document
type: Information Resource

A yeast artificial chromosome telomere clone spanning a possible location of the Huntington disease gene.
PubMed Identifier: 2138410
author list: Bates GP, MacDonald ME, Baxendale S, Sedlacek Z, Youngman S, Romano D, Whaley WL, Allitto BA, Poustka A, Gusella JF
published in: American journal of human genetics
information resource reference: A yeast artificial chromosome telomere clone spanning a possible location of the Huntington disease gene. Am J Hum Genet. 1990 Apr; 46(4):762-75.
journal title abbreviation: Am J Hum Genet
publication date: 1990-04-01T00:00:00
year: 1990
type: Academic Article
type: Article
type: Document
type: Information Resource

The relationship between CAG repeat length and age of onset differs for Huntington's disease patients with juvenile onset or adult onset.
PubMed Identifier: 17181545
author list: Andresen JM, Gayán J, Djoussé L, Roberts S, Brocklebank D, Cherny SS, Cardon LR, Gusella JF, MacDonald ME, Myers RH, Housman DE, Wexler NS
published in: Annals of human genetics
information resource reference: The relationship between CAG repeat length and age of onset differs for Huntington's disease patients with juvenile onset or adult onset. Ann Hum Genet. 2007 May; 71(Pt 3):295-301.
journal title abbreviation: Ann Hum Genet
publication date: 2006-12-19T00:00:00
year: 2006
type: Academic Article
type: Article
type: Document
type: Information Resource

Factors associated with HD CAG repeat instability in Huntington disease.
PubMed Identifier: 17660463
author list: Wheeler VC, Persichetti F, McNeil SM, Mysore JS, Mysore SS, MacDonald ME, Myers RH, Gusella JF, Wexler NS
published in: Journal of medical genetics
information resource reference: Factors associated with HD CAG repeat instability in Huntington disease. J Med Genet. 2007 Nov; 44(11):695-701.
journal title abbreviation: J Med Genet
publication date: 2007-07-27T00:00:00
year: 2007
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type: Article
type: Document
type: Information Resource

Disruption of neurexin 1 associated with autism spectrum disorder.
PubMed Identifier: 18179900
author list: Kim HG, Kishikawa S, Higgins AW, Seong IS, Donovan DJ, Shen Y, Lally E, Weiss LA, Najm J, Kutsche K, Descartes M, Holt L, Braddock S, Troxell R, Kaplan L, Volkmar F, Klin A, Tsatsanis K, Harris DJ, Noens I, Pauls DL, Daly MJ, MacDonald ME, Morton CC, Quade BJ, Gusella JF
published in: American journal of human genetics
information resource reference: Disruption of neurexin 1 associated with autism spectrum disorder. Am J Hum Genet. 2008 Jan; 82(1):199-207.
journal title abbreviation: Am J Hum Genet
publication date: 2008-01-01T00:00:00
year: 2008
type: Academic Article
type: Article
type: Document
type: Information Resource

Chromosomal localization of the mouse homolog of the Huntington's disease linked G8 (D4S10) marker.
PubMed Identifier: 2890502
author list: Cheng SV, Gross Lugo T, Tanzi RE, Whitney JB, Fournier RE, Gusella JF
published in: DNA (Mary Ann Liebert, Inc.)
information resource reference: Chromosomal localization of the mouse homolog of the Huntington's disease linked G8 (D4S10) marker. DNA. 1987 Oct; 6(5):401-7.
journal title abbreviation: DNA
publication date: 1987-10-01T00:00:00
year: 1987
type: Academic Article
type: Article
type: Document
type: Information Resource

Linkage map on chromosome 21q and the association of a DNA haplotype with a propensity to nondisjunction and trisomy 21.
PubMed Identifier: 2990311
author list: Antonarakis SE, Kittur SD, Metaxotou C, Bartsocas C, Kitsiou S, Watkins PC, Patel AS, Warren AC, Gusella JF, Groner Y
published in: Annals of the New York Academy of Sciences
information resource reference: Linkage map on chromosome 21q and the association of a DNA haplotype with a propensity to nondisjunction and trisomy 21. Ann N Y Acad Sci. 1985; 450:95-107.
journal title abbreviation: Ann N Y Acad Sci
publication date: 1985-01-01T00:00:00
year: 1985
type: Academic Article
type: Article
type: Document
type: Information Resource

Highly penetrant alterations of a critical region including BDNF in human psychopathology and obesity.
PubMed Identifier: 23044507
author list: Ernst C, Marshall CR, Shen Y, Metcalfe K, Rosenfeld J, Hodge JC, Torres A, Blumenthal I, Chiang C, Pillalamarri V, Crapper L, Diallo AB, Ruderfer D, Pereira S, Sklar P, Purcell S, Wildin RS, Spencer AC, Quade BF, Harris DJ, Lemyre E, Wu BL, Stavropoulos DJ, Geraghty MT, Shaffer LG, Morton CC, Scherer SW, Gusella JF, Talkowski ME
published in: Archives of general psychiatry
information resource reference: Highly penetrant alterations of a critical region including BDNF in human psychopathology and obesity. Arch Gen Psychiatry. 2012 Dec; 69(12):1238-46.
journal title abbreviation: Arch Gen Psychiatry
publication date: 2012-12-01T00:00:00
year: 2012
type: Academic Article
type: Article
type: Document
type: Information Resource

Detection of copy number variants reveals association of cilia genes with neural tube defects.
PubMed Identifier: 23349908
author list: Chen X, Shen Y, Gao Y, Zhao H, Sheng X, Zou J, Lip V, Xie H, Guo J, Shao H, Bao Y, Shen J, Niu B, Gusella JF, Wu BL, Zhang T
published in: PloS one
information resource reference: Detection of copy number variants reveals association of cilia genes with neural tube defects. PLoS One. 2013; 8(1):e54492.
journal title abbreviation: PLoS One
publication date: 2013-01-17T00:00:00
year: 2013
type: Academic Article
type: Article
type: Document
type: Information Resource

Huntingtin immunoreactivity in the rat neostriatum: differential accumulation in projection and interneurons.
PubMed Identifier: 9168825
author list: Kosinski CM, Cha JH, Young AB, Persichetti F, MacDonald M, Gusella JF, Penney JB, Standaert DG
published in: Experimental neurology
information resource reference: Huntingtin immunoreactivity in the rat neostriatum: differential accumulation in projection and interneurons. Exp Neurol. 1997 Apr; 144(2):239-47.
journal title abbreviation: Exp Neurol
publication date: 1997-04-01T00:00:00
year: 1997
type: Academic Article
type: Article
type: Document
type: Information Resource

Linkage of eye movement dysfunction to chromosome 6p in schizophrenia: additional evidence.
PubMed Identifier: 15211627
author list: Matthysse S, Holzman PS, Gusella JF, Levy DL, Harte CB, Jørgensen A, Møller L, Parnas J
published in: American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics
information resource reference: Linkage of eye movement dysfunction to chromosome 6p in schizophrenia: additional evidence. Am J Med Genet B Neuropsychiatr Genet. 2004 Jul 01; 128B(1):30-6.
journal title abbreviation: Am J Med Genet B Neuropsychiatr Genet
publication date: 2004-07-01T00:00:00
year: 2004
type: Academic Article
type: Article
type: Document
type: Information Resource

Genetic analysis of the GRIK2 modifier effect in Huntington's disease.
PubMed Identifier: 16959037
author list: Zeng W, Gillis T, Hakky M, Djoussé L, Myers RH, MacDonald ME, Gusella JF
published in: BMC neuroscience
information resource reference: Genetic analysis of the GRIK2 modifier effect in Huntington's disease. BMC Neurosci. 2006 Sep 07; 7:62.
journal title abbreviation: BMC Neurosci
publication date: 2006-09-07T00:00:00
year: 2006
type: Academic Article
type: Article
type: Document
type: Information Resource

Disruption of ROBO2 is associated with urinary tract anomalies and confers risk of vesicoureteral reflux.
PubMed Identifier: 17357069
author list: Lu W, van Eerde AM, Fan X, Quintero-Rivera F, Kulkarni S, Ferguson H, Kim HG, Fan Y, Xi Q, Li QG, Sanlaville D, Andrews W, Sundaresan V, Bi W, Yan J, Giltay JC, Wijmenga C, de Jong TP, Feather SA, Woolf AS, Rao Y, Lupski JR, Eccles MR, Quade BJ, Gusella JF, Morton CC, Maas RL
published in: American journal of human genetics
information resource reference: Disruption of ROBO2 is associated with urinary tract anomalies and confers risk of vesicoureteral reflux. Am J Hum Genet. 2007 Apr; 80(4):616-32.
journal title abbreviation: Am J Hum Genet
publication date: 2007-02-14T00:00:00
year: 2007
type: Academic Article
type: Article
type: Document
type: Information Resource

DNA methylation affecting the expression of murine leukemia proviruses.
PubMed Identifier: 6183444
author list: Hoffmann JW, Steffen D, Gusella J, Tabin C, Bird S, Cowing D, Weinberg RA
published in: Journal of virology
information resource reference: DNA methylation affecting the expression of murine leukemia proviruses. J Virol. 1982 Oct; 44(1):144-57.
journal title abbreviation: J Virol
publication date: 1982-10-01T00:00:00
year: 1982
type: Academic Article
type: Article
type: Document
type: Information Resource

Identification of human chromosome 9 specific genes using exon amplification.
PubMed Identifier: 7506603
author list: Church DM, Banks LT, Rogers AC, Graw SL, Housman DE, Gusella JF, Buckler AJ
published in: Human molecular genetics
information resource reference: Identification of human chromosome 9 specific genes using exon amplification. Hum Mol Genet. 1993 Nov; 2(11):1915-20.
journal title abbreviation: Hum Mol Genet
publication date: 1993-11-01T00:00:00
year: 1993
type: Academic Article
type: Article
type: Document
type: Information Resource

High resolution localization of recombination hot spots using sperm typing.
PubMed Identifier: 7920662
author list: Hubert R, MacDonald M, Gusella J, Arnheim N
published in: Nature genetics
information resource reference: High resolution localization of recombination hot spots using sperm typing. Nat Genet. 1994 Jul; 7(3):420-4.
journal title abbreviation: Nat Genet
publication date: 1994-07-01T00:00:00
year: 1994
type: Academic Article
type: Article
type: Document
type: Information Resource

X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment.
PubMed Identifier: 18469813
author list: Dibbens LM, Tarpey PS, Hynes K, Bayly MA, Scheffer IE, Smith R, Bomar J, Sutton E, Vandeleur L, Shoubridge C, Edkins S, Turner SJ, Stevens C, O'Meara S, Tofts C, Barthorpe S, Buck G, Cole J, Halliday K, Jones D, Lee R, Madison M, Mironenko T, Varian J, West S, Widaa S, Wray P, Teague J, Dicks E, Butler A, Menzies A, Jenkinson A, Shepherd R, Gusella JF, Afawi Z, Mazarib A, Neufeld MY, Kivity S, Lev D, Lerman-Sagie T, Korczyn AD, Derry CP, Sutherland GR, Friend K, Shaw M, Corbett M, Kim HG, Geschwind DH, Thomas P, Haan E, Ryan S, McKee S, Berkovic SF, Futreal PA, Stratton MR, Mulley JC, Gécz J
published in: Nature genetics
information resource reference: X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment. Nat Genet. 2008 Jun; 40(6):776-81.
journal title abbreviation: Nat Genet
publication date: 2008-05-11T00:00:00
year: 2008
type: Academic Article
type: Article
type: Document
type: Information Resource

A new DNA marker (D4S90) is located terminally on the short arm of chromosome 4, close to the Huntington disease gene.
PubMed Identifier: 2574148
author list: Youngman S, Sarfarazi M, Bucan M, MacDonald M, Smith B, Zimmer M, Gilliam C, Frischauf AM, Wasmuth JJ, Gusella JF
published in: Genomics
information resource reference: A new DNA marker (D4S90) is located terminally on the short arm of chromosome 4, close to the Huntington disease gene. Genomics. 1989 Nov; 5(4):802-9.
journal title abbreviation: Genomics
publication date: 1989-11-01T00:00:00
year: 1989
type: Academic Article
type: Article
type: Document
type: Information Resource

Huntington disease in Finland: linkage disequilibrium of chromosome 4 RFLP haplotypes and exclusion of a tight linkage between the disease and D4S43 locus.
PubMed Identifier: 1967208
author list: Ikonen E, Palo J, Ott J, Gusella J, Somer H, Karila L, Palotie A, Peltonen L
published in: American journal of human genetics
information resource reference: Huntington disease in Finland: linkage disequilibrium of chromosome 4 RFLP haplotypes and exclusion of a tight linkage between the disease and D4S43 locus. Am J Hum Genet. 1990 Jan; 46(1):5-11.
journal title abbreviation: Am J Hum Genet
publication date: 1990-01-01T00:00:00
year: 1990
type: Academic Article
type: Article
type: Document
type: Information Resource

DNA sequence and regional assignment of the human follicle-stimulating hormone beta-subunit gene to the short arm of human chromosome 11.
PubMed Identifier: 2885163
author list: Watkins PC, Eddy R, Beck AK, Vellucci V, Leverone B, Tanzi RE, Gusella JF, Shows TB
published in: DNA (Mary Ann Liebert, Inc.)
information resource reference: DNA sequence and regional assignment of the human follicle-stimulating hormone beta-subunit gene to the short arm of human chromosome 11. DNA. 1987 Jun; 6(3):205-12.
journal title abbreviation: DNA
publication date: 1987-06-01T00:00:00
year: 1987
type: Academic Article
type: Article
type: Document
type: Information Resource

Molecular genetics of Huntington's disease.
PubMed Identifier: 8215974
author list: Gusella JF, MacDonald ME, Ambrose CM, Duyao MP
published in: Archives of neurology
information resource reference: Molecular genetics of Huntington's disease. Arch Neurol. 1993 Nov; 50(11):1157-63.
journal title abbreviation: Arch Neurol
publication date: 1993-11-01T00:00:00
year: 1993
type: Academic Article
type: Article
type: Document
type: Information Resource

No genetic effect of alpha1-antichymotrypsin in Alzheimer disease.
PubMed Identifier: 8617509
author list: Haines JL, Pritchard ML, Saunders AM, Schildkraut JM, Growdon JH, Gaskell PC, Farrer LA, Auerbach SA, Gusella JF, Locke PA, Rosi BL, Yamaoka L, Small GW, Conneally PM, Roses AD, Pericak-Vance MA
published in: Genomics
information resource reference: No genetic effect of alpha1-antichymotrypsin in Alzheimer disease. Genomics. 1996 Apr 01; 33(1):53-6.
journal title abbreviation: Genomics
publication date: 1996-04-01T00:00:00
year: 1996
type: Academic Article
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type: Document
type: Information Resource

Influence of heterozygosity for parkin mutation on onset age in familial Parkinson disease: the GenePD study.
PubMed Identifier: 16769863
author list: Sun M, Latourelle JC, Wooten GF, Lew MF, Klein C, Shill HA, Golbe LI, Mark MH, Racette BA, Perlmutter JS, Parsian A, Guttman M, Nicholson G, Xu G, Wilk JB, Saint-Hilaire MH, DeStefano AL, Prakash R, Williamson S, Suchowersky O, Labelle N, Growdon JH, Singer C, Watts RL, Goldwurm S, Pezzoli G, Baker KB, Pramstaller PP, Burn DJ, Chinnery PF, Sherman S, Vieregge P, Litvan I, Gillis T, MacDonald ME, Myers RH, Gusella JF
published in: Archives of neurology
information resource reference: Influence of heterozygosity for parkin mutation on onset age in familial Parkinson disease: the GenePD study. Arch Neurol. 2006 Jun; 63(6):826-32.
journal title abbreviation: Arch Neurol
publication date: 2006-06-01T00:00:00
year: 2006
type: Academic Article
type: Article
type: Document
type: Information Resource

Disruption of a synaptotagmin (SYT14) associated with neurodevelopmental abnormalities.
PubMed Identifier: 17304550
author list: Quintero-Rivera F, Chan A, Donovan DJ, Gusella JF, Ligon AH
published in: American journal of medical genetics. Part A
information resource reference: Disruption of a synaptotagmin (SYT14) associated with neurodevelopmental abnormalities. Am J Med Genet A. 2007 Mar 15; 143A(6):558-63.
journal title abbreviation: Am J Med Genet A
publication date: 2007-03-15T00:00:00
year: 2007
type: Academic Article
type: Article
type: Document
type: Information Resource

Mediator subunit MED28 (Magicin) is a repressor of smooth muscle cell differentiation.
PubMed Identifier: 17848560
author list: Beyer KS, Beauchamp RL, Lee MF, Gusella JF, Näär AM, Ramesh V
published in: The Journal of biological chemistry
information resource reference: Mediator subunit MED28 (Magicin) is a repressor of smooth muscle cell differentiation. J Biol Chem. 2007 Nov 02; 282(44):32152-7.
journal title abbreviation: J Biol Chem
publication date: 2007-09-11T00:00:00
year: 2007
type: Academic Article
type: Article
type: Document
type: Information Resource

Development of a focused oligonucleotide-array comparative genomic hybridization chip for clinical diagnosis of genomic imbalance.
PubMed Identifier: 17901113
author list: Shen Y, Irons M, Miller DT, Cheung SW, Lip V, Sheng X, Tomaszewicz K, Shao H, Fang H, Tang HS, Irons M, Walsh CA, Platt O, Gusella JF, Wu BL
published in: Clinical chemistry
information resource reference: Development of a focused oligonucleotide-array comparative genomic hybridization chip for clinical diagnosis of genomic imbalance. Clin Chem. 2007 Dec; 53(12):2051-9.
journal title abbreviation: Clin Chem
publication date: 2007-09-27T00:00:00
year: 2007
type: Academic Article
type: Article
type: Document
type: Information Resource

Precise localization of human beta-globin gene complex on chromosome 11.
PubMed Identifier: 291941
author list: Gusella J, Varsanyi-Breiner A, Kao FT, Jones C, Puck TT, Keys C, Orkin S, Housman D
published in: Proceedings of the National Academy of Sciences of the United States of America
information resource reference: Precise localization of human beta-globin gene complex on chromosome 11. Proc Natl Acad Sci U S A. 1979 Oct; 76(10):5239-42.
journal title abbreviation: Proc Natl Acad Sci U S A
publication date: 1979-10-01T00:00:00
year: 1979
type: Academic Article
type: Article
type: Document
type: Information Resource

An evolutionary recent neuroepithelial cell adhesion function of huntingtin implicates ADAM10-Ncadherin.
PubMed Identifier: 22466506
author list: Lo Sardo V, Zuccato C, Gaudenzi G, Vitali B, Ramos C, Tartari M, Myre MA, Walker JA, Pistocchi A, Conti L, Valenza M, Drung B, Schmidt B, Gusella J, Zeitlin S, Cotelli F, Cattaneo E
published in: Nature neuroscience
information resource reference: An evolutionary recent neuroepithelial cell adhesion function of huntingtin implicates ADAM10-Ncadherin. Nat Neurosci. 2012 May; 15(5):713-21.
journal title abbreviation: Nat Neurosci
publication date: 2012-05-01T00:00:00
year: 2012
type: Academic Article
type: Article
type: Document
type: Information Resource

Mapping of the gene encoding the beta-amyloid precursor protein and its relationship to the Down syndrome region of chromosome 21.
PubMed Identifier: 2973063
author list: Patterson D, Gardiner K, Kao FT, Tanzi R, Watkins P, Gusella JF
published in: Proceedings of the National Academy of Sciences of the United States of America
information resource reference: Mapping of the gene encoding the beta-amyloid precursor protein and its relationship to the Down syndrome region of chromosome 21. Proc Natl Acad Sci U S A. 1988 Nov; 85(21):8266-70.
journal title abbreviation: Proc Natl Acad Sci U S A
publication date: 1988-11-01T00:00:00
year: 1988
type: Academic Article
type: Article
type: Document
type: Information Resource

Relationship between trinucleotide repeat expansion and phenotypic variation in Huntington's disease.
PubMed Identifier: 8401588
author list: Snell RG, MacMillan JC, Cheadle JP, Fenton I, Lazarou LP, Davies P, MacDonald ME, Gusella JF, Harper PS, Shaw DJ
published in: Nature genetics
information resource reference: Relationship between trinucleotide repeat expansion and phenotypic variation in Huntington's disease. Nat Genet. 1993 Aug; 4(4):393-7.
journal title abbreviation: Nat Genet
publication date: 1993-08-01T00:00:00
year: 1993
type: Academic Article
type: Article
type: Document
type: Information Resource

Assessment of cortical and striatal involvement in 523 Huntington disease brains.
PubMed Identifier: 23035064
author list: Hadzi TC, Hendricks AE, Latourelle JC, Lunetta KL, Cupples LA, Gillis T, Mysore JS, Gusella JF, MacDonald ME, Myers RH, Vonsattel JP
published in: Neurology
information resource reference: Assessment of cortical and striatal involvement in 523 Huntington disease brains. Neurology. 2012 Oct 16; 79(16):1708-15.
journal title abbreviation: Neurology
publication date: 2012-10-03T00:00:00
year: 2012
type: Academic Article
type: Article
type: Document
type: Information Resource

Studies of a DNA marker (G8) genetically linked to Huntington disease in British families.
PubMed Identifier: 3017842
author list: Youngman S, Sarfarazi M, Quarrell OW, Conneally PM, Gibbons K, Harper PS, Shaw DJ, Tanzi RE, Wallace MR, Gusella JF
published in: Human genetics
information resource reference: Studies of a DNA marker (G8) genetically linked to Huntington disease in British families. Hum Genet. 1986 Aug; 73(4):333-9.
journal title abbreviation: Hum Genet
publication date: 1986-08-01T00:00:00
year: 1986
type: Academic Article
type: Article
type: Document
type: Information Resource

Contribution of copy number variants involving nonsense-mediated mRNA decay pathway genes to neuro-developmental disorders.
PubMed Identifier: 23376982
author list: Nguyen LS, Kim HG, Rosenfeld JA, Shen Y, Gusella JF, Lacassie Y, Layman LC, Shaffer LG, Gécz J
published in: Human molecular genetics
information resource reference: Contribution of copy number variants involving nonsense-mediated mRNA decay pathway genes to neuro-developmental disorders. Hum Mol Genet. 2013 May 01; 22(9):1816-25.
journal title abbreviation: Hum Mol Genet
publication date: 2013-01-31T00:00:00
year: 2013
type: Academic Article
type: Article
type: Document
type: Information Resource

Splicing defect at the ornithine aminotransferase (OAT) locus in gyrate atrophy.
PubMed Identifier: 2220818
author list: McClatchey AI, Kaufman DL, Berson EL, Tobin AJ, Shih VE, Gusella JF, Ramesh V
published in: American journal of human genetics
information resource reference: Splicing defect at the ornithine aminotransferase (OAT) locus in gyrate atrophy. Am J Hum Genet. 1990 Nov; 47(5):790-4.
journal title abbreviation: Am J Hum Genet
publication date: 1990-11-01T00:00:00
year: 1990
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 1032550
type: Authorship
author rank in publication: 12
linked author: Gusella, James
linked information resource: Brain urea increase is an early Huntington's disease pathogenic event observed in a prodromal transgenic sheep model and HD cases.

Brain urea increase is an early Huntington's disease pathogenic event observed in a prodromal transgenic sheep model and HD cases.
PubMed Identifier: 29229845
author list: Handley RR, Reid SJ, Brauning R, Maclean P, Mears ER, Fourie I, Patassini S, Cooper GJS, Rudiger SR, McLaughlan CJ, Verma PJ, Gusella JF, MacDonald ME, Waldvogel HJ, Bawden CS, Faull RLM, Snell RG
published in: Proceedings of the National Academy of Sciences of the United States of America
information resource reference: Brain urea increase is an early Huntington's disease pathogenic event observed in a prodromal transgenic sheep model and HD cases. Proc Natl Acad Sci U S A. 2017 12 26; 114(52):E11293-E11302.
journal title abbreviation: Proc Natl Acad Sci U S A
publication date: 2017-12-11T00:00:00
year: 2017
type: Academic Article
type: Article
type: Document
type: Information Resource

Molecular genetics of familial Alzheimer's disease.
PubMed Identifier: 2693103
author list: St George-Hyslop PH, Tanzi RE, Haines JL, Polinsky RJ, Farrer L, Myers RH, Gusella JF
published in: European neurology
information resource reference: Molecular genetics of familial Alzheimer's disease. Eur Neurol. 1989; 29 Suppl 3:25-7.
journal title abbreviation: Eur Neurol
publication date: 1989-01-01T00:00:00
year: 1989
type: Academic Article
type: Article
type: Document
type: Information Resource

The cell adhesion gene PVRL3 is associated with congenital ocular defects.
PubMed Identifier: 21769484
author list: Lachke SA, Higgins AW, Inagaki M, Saadi I, Xi Q, Long M, Quade BJ, Talkowski ME, Gusella JF, Fujimoto A, Robinson ML, Yang Y, Duong QT, Shapira I, Motro B, Miyoshi J, Takai Y, Morton CC, Maas RL
published in: Human genetics
information resource reference: The cell adhesion gene PVRL3 is associated with congenital ocular defects. Hum Genet. 2012 Feb; 131(2):235-50.
journal title abbreviation: Hum Genet
publication date: 2011-07-17T00:00:00
year: 2011
type: Academic Article
type: Article
type: Document
type: Information Resource

Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus.
PubMed Identifier: 21881559
author list: Jacquemont S, Reymond A, Zufferey F, Harewood L, Walters RG, Kutalik Z, Martinet D, Shen Y, Valsesia A, Beckmann ND, Thorleifsson G, Belfiore M, Bouquillon S, Campion D, de Leeuw N, de Vries BB, Esko T, Fernandez BA, Fernández-Aranda F, Fernández-Real JM, Gratacòs M, Guilmatre A, Hoyer J, Jarvelin MR, Kooy RF, Kurg A, Le Caignec C, Männik K, Platt OS, Sanlaville D, Van Haelst MM, Villatoro Gomez S, Walha F, Wu BL, Yu Y, Aboura A, Addor MC, Alembik Y, Antonarakis SE, Arveiler B, Barth M, Bednarek N, Béna F, Bergmann S, Beri M, Bernardini L, Blaumeiser B, Bonneau D, Bottani A, Boute O, Brunner HG, Cailley D, Callier P, Chiesa J, Chrast J, Coin L, Coutton C, Cuisset JM, Cuvellier JC, David A, de Freminville B, Delobel B, Delrue MA, Demeer B, Descamps D, Didelot G, Dieterich K, Disciglio V, Doco-Fenzy M, Drunat S, Duban-Bedu B, Dubourg C, El-Sayed Moustafa JS, Elliott P, Faas BH, Faivre L, Faudet A, Fellmann F, Ferrarini A, Fisher R, Flori E, Forer L, Gaillard D, Gerard M, Gieger C, Gimelli S, Gimelli G, Grabe HJ, Guichet A, Guillin O, Hartikainen AL, Heron D, Hippolyte L, Holder M, Homuth G, Isidor B, Jaillard S, Jaros Z, Jiménez-Murcia S, Helas GJ, Jonveaux P, Kaksonen S, Keren B, Kloss-Brandstätter A, Knoers NV, Koolen DA, Kroisel PM, Kronenberg F, Labalme A, Landais E, Lapi E, Layet V, Legallic S, Leheup B, Leube B, Lewis S, Lucas J, MacDermot KD, Magnusson P, Marshall C, Mathieu-Dramard M, McCarthy MI, Meitinger T, Mencarelli MA, Merla G, Moerman A, Mooser V, Morice-Picard F, Mucciolo M, Nauck M, Ndiaye NC, Nordgren A, Pasquier L, Petit F, Pfundt R, Plessis G, Rajcan-Separovic E, Ramelli GP, Rauch A, Ravazzolo R, Reis A, Renieri A, Richart C, Ried JS, Rieubland C, Roberts W, Roetzer KM, Rooryck C, Rossi M, Saemundsen E, Satre V, Schurmann C, Sigurdsson E, Stavropoulos DJ, Stefansson H, Tengström C, Thorsteinsdóttir U, Tinahones FJ, Touraine R, Vallée L, van Binsbergen E, Van der Aa N, Vincent-Delorme C, Visvikis-Siest S, Vollenweider P, Völzke H, Vulto-van Silfhout…
published in: Nature
information resource reference: Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus. Nature. 2011 Aug 31; 478(7367):97-102.
journal title abbreviation: Nature
publication date: 2011-08-31T00:00:00
year: 2011
type: Academic Article
type: Article
type: Document
type: Information Resource

Molecular genetics of human chromosome 21.
PubMed Identifier: 2884319
author list: Watkins PC, Tanzi RE, Cheng SV, Gusella JF
published in: Journal of medical genetics
information resource reference: Molecular genetics of human chromosome 21. J Med Genet. 1987 May; 24(5):257-70.
journal title abbreviation: J Med Genet
publication date: 1987-05-01T00:00:00
year: 1987
type: Academic Article
type: Article
type: Document
type: Information Resource

Characterization of apparently balanced chromosomal rearrangements from the developmental genome anatomy project.
PubMed Identifier: 18319076
author list: Higgins AW, Alkuraya FS, Bosco AF, Brown KK, Bruns GA, Donovan DJ, Eisenman R, Fan Y, Farra CG, Ferguson HL, Gusella JF, Harris DJ, Herrick SR, Kelly C, Kim HG, Kishikawa S, Korf BR, Kulkarni S, Lally E, Leach NT, Lemyre E, Lewis J, Ligon AH, Lu W, Maas RL, MacDonald ME, Moore SD, Peters RE, Quade BJ, Quintero-Rivera F, Saadi I, Shen Y, Shendure J, Williamson RE, Morton CC
published in: American journal of human genetics
information resource reference: Characterization of apparently balanced chromosomal rearrangements from the developmental genome anatomy project. Am J Hum Genet. 2008 Mar; 82(3):712-22.
journal title abbreviation: Am J Hum Genet
publication date: 2008-03-01T00:00:00
year: 2008
type: Academic Article
type: Article
type: Document
type: Information Resource

Association of a polymorphism near CREB1 with differential aversion processing in the insula of healthy participants.
PubMed Identifier: 18678793
author list: Perlis RH, Holt DJ, Smoller JW, Blood AJ, Lee S, Kim BW, Lee MJ, Sun M, Makris N, Kennedy DK, Rooney K, Dougherty DD, Hoge R, Rosenbaum JF, Fava M, Gusella J, Gasic GP, Breiter HC
published in: Archives of general psychiatry
information resource reference: Association of a polymorphism near CREB1 with differential aversion processing in the insula of healthy participants. Arch Gen Psychiatry. 2008 Aug; 65(8):882-92.
journal title abbreviation: Arch Gen Psychiatry
publication date: 2008-08-01T00:00:00
year: 2008
type: Academic Article
type: Article
type: Document
type: Information Resource

Mutations in CHD7, encoding a chromatin-remodeling protein, cause idiopathic hypogonadotropic hypogonadism and Kallmann syndrome.
PubMed Identifier: 18834967
author list: Kim HG, Kurth I, Lan F, Meliciani I, Wenzel W, Eom SH, Kang GB, Rosenberger G, Tekin M, Ozata M, Bick DP, Sherins RJ, Walker SL, Shi Y, Gusella JF, Layman LC
published in: American journal of human genetics
information resource reference: Mutations in CHD7, encoding a chromatin-remodeling protein, cause idiopathic hypogonadotropic hypogonadism and Kallmann syndrome. Am J Hum Genet. 2008 Oct; 83(4):511-9.
journal title abbreviation: Am J Hum Genet
publication date: 2008-10-02T00:00:00
year: 2008
type: Academic Article
type: Article
type: Document
type: Information Resource

BDNF, relative preference, and reward circuitry responses to emotional communication.
PubMed Identifier: 19388013
author list: Gasic GP, Smoller JW, Perlis RH, Sun M, Lee S, Kim BW, Lee MJ, Holt DJ, Blood AJ, Makris N, Kennedy DK, Hoge RD, Calhoun J, Fava M, Gusella JF, Breiter HC
published in: American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics
information resource reference: BDNF, relative preference, and reward circuitry responses to emotional communication. Am J Med Genet B Neuropsychiatr Genet. 2009 Sep 05; 150B(6):762-81.
journal title abbreviation: Am J Med Genet B Neuropsychiatr Genet
publication date: 2009-09-05T00:00:00
year: 2009
type: Academic Article
type: Article
type: Document
type: Information Resource

Phenotypic variation in 2 Huntington's disease families with linkage to chromosome 4.
PubMed Identifier: 2529452
author list: Sax DS, Bird ED, Gusella JF, Myers RH
published in: Neurology
information resource reference: Phenotypic variation in 2 Huntington's disease families with linkage to chromosome 4. Neurology. 1989 Oct; 39(10):1332-6.
journal title abbreviation: Neurology
publication date: 1989-10-01T00:00:00
year: 1989
type: Academic Article
type: Article
type: Document
type: Information Resource

The genetic defect in familial Alzheimer's disease is not tightly linked to the amyloid beta-protein gene.
PubMed Identifier: 2888020
author list: Tanzi RE, St George-Hyslop PH, Haines JL, Polinsky RJ, Nee L, Foncin JF, Neve RL, McClatchey AI, Conneally PM, Gusella JF
published in: Nature
information resource reference: The genetic defect in familial Alzheimer's disease is not tightly linked to the amyloid beta-protein gene. Nature. 1987 Sep 10-16; 329(6135):156-7.
journal title abbreviation: Nature
publication date: 1987-09-01T00:00:00
year: 1987
type: Academic Article
type: Article
type: Document
type: Information Resource

Population stratification may bias analysis of PGC-1a as a modifier of age at Huntington disease motor onset.
PubMed Identifier: 22825315
author list: Ramos EM, Latourelle JC, Lee JH, Gillis T, Mysore JS, Squitieri F, Di Pardo A, Di Donato S, Hayden MR, Morrison PJ, Nance M, Ross CA, Margolis RL, Gomez-Tortosa E, Ayuso C, Suchowersky O, Trent RJ, McCusker E, Novelletto A, Frontali M, Jones R, Ashizawa T, Frank S, Saint-Hilaire MH, Hersch SM, Rosas HD, Lucente D, Harrison MB, Zanko A, Marder K, Gusella JF, Lee JM, Alonso I, Sequeiros J, Myers RH, Macdonald ME
published in: Human genetics
information resource reference: Population stratification may bias analysis of PGC-1a as a modifier of age at Huntington disease motor onset. Hum Genet. 2012 Dec; 131(12):1833-40.
journal title abbreviation: Hum Genet
publication date: 2012-07-25T00:00:00
year: 2012
type: Academic Article
type: Article
type: Document
type: Information Resource

Control of proliferation and differentiation in cells transformed by Friend virus.
PubMed Identifier: 6933050
author list: Housman D, Levenson R, Volloch V, Tsiftsoglou A, Gusella J, Parker D, Kernen J, Mitrani A, Weeks V, Witte O, Besmer P
published in: Cold Spring Harbor symposia on quantitative biology
information resource reference: Control of proliferation and differentiation in cells transformed by Friend virus. Cold Spring Harb Symp Quant Biol. 1980; 44 Pt 2,:1177-85.
journal title abbreviation: Cold Spring Harb Symp Quant Biol
publication date: 1980-01-01T00:00:00
year: 1980
type: Academic Article
type: Article
type: Document
type: Information Resource

A genetic linkage map of the chromosome 4 short arm.
PubMed Identifier: 8096345
author list: Locke PA, MacDonald ME, Srinidhi J, Gilliam TC, Tanzi RE, Conneally PM, Wexler NS, Haines JL, Gusella JF
published in: Somatic cell and molecular genetics
information resource reference: A genetic linkage map of the chromosome 4 short arm. Somat Cell Mol Genet. 1993 Jan; 19(1):95-101.
journal title abbreviation: Somat Cell Mol Genet
publication date: 1993-01-01T00:00:00
year: 1993
type: Academic Article
type: Article
type: Document
type: Information Resource

A linkage study with DNA markers (D4S95, D4S115, and D4S111) in Japanese Huntington disease families.
PubMed Identifier: 8102909
author list: Watanabe M, Kondo I, Nissato S, Wakisaka A, Toda T, Ikeda J, Wasmuth JJ, Gusella JF, Kanazawa I
published in: The Japanese journal of human genetics
information resource reference: A linkage study with DNA markers (D4S95, D4S115, and D4S111) in Japanese Huntington disease families. Jpn J Hum Genet. 1993 Jun; 38(2):193-201.
journal title abbreviation: Jpn J Hum Genet
publication date: 1993-06-01T00:00:00
year: 1993
type: Academic Article
type: Article
type: Document
type: Information Resource

Characterization and expression of the human A2a adenosine receptor gene.
PubMed Identifier: 8522976
author list: Peterfreund RA, MacCollin M, Gusella J, Fink JS
published in: Journal of neurochemistry
information resource reference: Characterization and expression of the human A2a adenosine receptor gene. J Neurochem. 1996 Jan; 66(1):362-8.
journal title abbreviation: J Neurochem
publication date: 1996-01-01T00:00:00
year: 1996
type: Academic Article
type: Article
type: Document
type: Information Resource

Prenatal diagnosis of familial dysautonomia by analysis of linked CA-repeat polymorphisms on chromosome 9q31-q33.
PubMed Identifier: 8599360
author list: Eng CM, Slaugenhaupt SA, Blumenfeld A, Axelrod FB, Gusella JF, Desnick RJ
published in: American journal of medical genetics
information resource reference: Prenatal diagnosis of familial dysautonomia by analysis of linked CA-repeat polymorphisms on chromosome 9q31-q33. Am J Med Genet. 1995 Nov 20; 59(3):349-55.
journal title abbreviation: Am J Med Genet
publication date: 1995-11-20T00:00:00
year: 1995
type: Academic Article
type: Article
type: Document
type: Information Resource

Trinucleotide instability: a repeating theme in human inherited disorders.
PubMed Identifier: 8712774
author list: Gusella JF, MacDonald ME
published in: Annual review of medicine
information resource reference: Trinucleotide instability: a repeating theme in human inherited disorders. Annu Rev Med. 1996; 47:201-9.
journal title abbreviation: Annu Rev Med
publication date: 1996-01-01T00:00:00
year: 1996
type: Academic Article
type: Article
type: Document
type: Information Resource

Monozygotic twins discordant for neurofibromatosis 1.
PubMed Identifier: 20186797
author list: Kaplan L, Foster R, Shen Y, Parry DM, McMaster ML, O'Leary MC, Gusella JF
published in: American journal of medical genetics. Part A
information resource reference: Monozygotic twins discordant for neurofibromatosis 1. Am J Med Genet A. 2010 Mar; 152A(3):601-6.
journal title abbreviation: Am J Med Genet A
publication date: 2010-03-01T00:00:00
year: 2010
type: Academic Article
type: Article
type: Document
type: Information Resource

Regional assignment of the erythropoietin gene to human chromosome region 7pter----q22.
PubMed Identifier: 2875851
author list: Watkins PC, Eddy R, Hoffman N, Stanislovitis P, Beck AK, Galli J, Vellucci V, Gusella JF, Shows TB
published in: Cytogenetics and cell genetics
information resource reference: Regional assignment of the erythropoietin gene to human chromosome region 7pter----q22. Cytogenet Cell Genet. 1986; 42(4):214-8.
journal title abbreviation: Cytogenet Cell Genet
publication date: 1986-01-01T00:00:00
year: 1986
type: Academic Article
type: Article
type: Document
type: Information Resource

Genetic analysis workshop IV: Huntington disease linkage analysis, data description.
PubMed Identifier: 2952548
author list: Pericak-Vance MA, Meyers DA, Gusella JF, Folstein SE, Conneally PM
published in: Genetic epidemiology. Supplement
information resource reference: Genetic analysis workshop IV: Huntington disease linkage analysis, data description. Genet Epidemiol Suppl. 1986; 1:193-6.
journal title abbreviation: Genet Epidemiol Suppl
publication date: 1986-01-01T00:00:00
year: 1986
type: Academic Article
type: Article
type: Document
type: Information Resource

Loss of genes on chromosome 22 in tumorigenesis of human acoustic neuroma.
PubMed Identifier: 3092103
author list: Seizinger BR, Martuza RL, Gusella JF
published in: Nature
information resource reference: Loss of genes on chromosome 22 in tumorigenesis of human acoustic neuroma. Nature. 1986 Aug 14-20; 322(6080):644-7.
journal title abbreviation: Nature
publication date: 1986-08-01T00:00:00
year: 1986
type: Academic Article
type: Article
type: Document
type: Information Resource

The gene for achondroplasia maps to the telomeric region of chromosome 4p.
PubMed Identifier: 8012397
author list: Velinov M, Slaugenhaupt SA, Stoilov I, Scott CI, Gusella JF, Tsipouras P
published in: Nature genetics
information resource reference: The gene for achondroplasia maps to the telomeric region of chromosome 4p. Nat Genet. 1994 Mar; 6(3):314-7.
journal title abbreviation: Nat Genet
publication date: 1994-03-01T00:00:00
year: 1994
type: Academic Article
type: Article
type: Document
type: Information Resource

The cloning and expression of a sodium channel beta 1-subunit cDNA from human brain.
PubMed Identifier: 8394762
author list: McClatchey AI, Cannon SC, Slaugenhaupt SA, Gusella JF
published in: Human molecular genetics
information resource reference: The cloning and expression of a sodium channel beta 1-subunit cDNA from human brain. Hum Mol Genet. 1993 Jun; 2(6):745-9.
journal title abbreviation: Hum Mol Genet
publication date: 1993-06-01T00:00:00
year: 1993
type: Academic Article
type: Article
type: Document
type: Information Resource

Patient and physician attitudes regarding clinical trials in neurofibromatosis 1.
PubMed Identifier: 19170300
author list: McQueen M, MacCollin M, Gusella J, Plotkin SR
published in: The Journal of neuroscience nursing : journal of the American Association of Neuroscience Nurses
information resource reference: Patient and physician attitudes regarding clinical trials in neurofibromatosis 1. J Neurosci Nurs. 2008 Dec; 40(6):341-5.
journal title abbreviation: J Neurosci Nurs
publication date: 2008-12-01T00:00:00
year: 2008
type: Academic Article
type: Article
type: Document
type: Information Resource

Molecular genetic approaches to Alzheimer's disease.
PubMed Identifier: 2470173
author list: Tanzi RE, St George-Hyslop PH, Gusella JF
published in: Trends in neurosciences
information resource reference: Molecular genetic approaches to Alzheimer's disease. Trends Neurosci. 1989 Apr; 12(4):152-8.
journal title abbreviation: Trends Neurosci
publication date: 1989-04-01T00:00:00
year: 1989
type: Academic Article
type: Article
type: Document
type: Information Resource

Identification of a novel kindred with familial pancreatitis and pancreatic cancer.
PubMed Identifier: 19407482
author list: LaFemina J, Roberts PA, Hung YP, Gusella JF, Sahani D, Fernández-del Castillo C, Warshaw AL, Thayer SP
published in: Pancreatology : official journal of the International Association of Pancreatology (IAP) ... [et al.]
information resource reference: Identification of a novel kindred with familial pancreatitis and pancreatic cancer. Pancreatology. 2009; 9(3):273-9.
journal title abbreviation: Pancreatology
publication date: 2009-04-29T00:00:00
year: 2009
type: Academic Article
type: Article
type: Document
type: Information Resource

Mapping of the DNA locus D4S10 and the linked Huntington's disease gene to 4p16----p15.
PubMed Identifier: 2944714
author list: Zabel BU, Naylor SL, Sakaguchi AY, Gusella JF
published in: Cytogenetics and cell genetics
information resource reference: Mapping of the DNA locus D4S10 and the linked Huntington's disease gene to 4p16----p15. Cytogenet Cell Genet. 1986; 42(4):187-90.
journal title abbreviation: Cytogenet Cell Genet
publication date: 1986-01-01T00:00:00
year: 1986
type: Academic Article
type: Article
type: Document
type: Information Resource

Translocations disrupting PHF21A in the Potocki-Shaffer-syndrome region are associated with intellectual disability and craniofacial anomalies.
PubMed Identifier: 22770980
author list: Kim HG, Kim HT, Leach NT, Lan F, Ullmann R, Silahtaroglu A, Kurth I, Nowka A, Seong IS, Shen Y, Talkowski ME, Ruderfer D, Lee JH, Glotzbach C, Ha K, Kjaergaard S, Levin AV, Romeike BF, Kleefstra T, Bartsch O, Elsea SH, Jabs EW, MacDonald ME, Harris DJ, Quade BJ, Ropers HH, Shaffer LG, Kutsche K, Layman LC, Tommerup N, Kalscheuer VM, Shi Y, Morton CC, Kim CH, Gusella JF
published in: American journal of human genetics
information resource reference: Translocations disrupting PHF21A in the Potocki-Shaffer-syndrome region are associated with intellectual disability and craniofacial anomalies. Am J Hum Genet. 2012 Jul 13; 91(1):56-72.
journal title abbreviation: Am J Hum Genet
publication date: 2012-07-05T00:00:00
year: 2012
type: Academic Article
type: Article
type: Document
type: Information Resource

DNA polymorphism and human disease.
PubMed Identifier: 3017198
author list: Gusella JF
published in: Annual review of biochemistry
information resource reference: DNA polymorphism and human disease. Annu Rev Biochem. 1986; 55:831-54.
journal title abbreviation: Annu Rev Biochem
publication date: 1986-01-01T00:00:00
year: 1986
type: Academic Article
type: Article
type: Document
type: Information Resource

Dinucleotide repeat polymorphism at the topoisomerase (DNA) I pseudogene 2 (TOPIP2).
PubMed Identifier: 1338763
author list: Trofatter JA, Sytsma ML, Gusella JF, Haines JL
published in: Human molecular genetics
information resource reference: Dinucleotide repeat polymorphism at the topoisomerase (DNA) I pseudogene 2 (TOPIP2). Hum Mol Genet. 1992 Sep; 1(6):455.
journal title abbreviation: Hum Mol Genet
publication date: 1992-09-01T00:00:00
year: 1992
type: Academic Article
type: Article
type: Document
type: Information Resource

Analysis of germline mutation spectra at the Huntington's disease locus supports a mitotic mutation mechanism.
PubMed Identifier: 9931325
author list: Leeflang EP, Tavaré S, Marjoram P, Neal CO, Srinidhi J, MacFarlane H, MacDonald ME, Gusella JF, de Young M, Wexler NS, Arnheim N
published in: Human molecular genetics
information resource reference: Analysis of germline mutation spectra at the Huntington's disease locus supports a mitotic mutation mechanism. Hum Mol Genet. 1999 Feb; 8(2):173-83.
journal title abbreviation: Hum Mol Genet
publication date: 1999-02-01T00:00:00
year: 1999
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 1044086
type: Authorship
author rank in publication: 13
linked author: Gusella, James
linked information resource: Pain correlates with germline mutation in schwannomatosis.

Pain correlates with germline mutation in schwannomatosis.
PubMed Identifier: 29384852
author list: Jordan JT, Smith MJ, Walker JA, Erdin S, Talkowski ME, Merker VL, Ramesh V, Cai W, Harris GJ, Bredella MA, Seijo M, Suuberg A, Gusella JF, Plotkin SR
published in: Medicine
information resource reference: Pain correlates with germline mutation in schwannomatosis. Medicine (Baltimore). 2018 Feb; 97(5):e9717.
journal title abbreviation: Medicine (Baltimore)
publication date: 2018-02-01T00:00:00
year: 2018
type: Academic Article
type: Article
type: Document
type: Information Resource

A genetic linkage map of human chromosome 9q.
PubMed Identifier: 1427899
author list: Ozelius LJ, Kwiatkowski DJ, Schuback DE, Breakefield XO, Wexler NS, Gusella JF, Haines JL
published in: Genomics
information resource reference: A genetic linkage map of human chromosome 9q. Genomics. 1992 Nov; 14(3):715-20.
journal title abbreviation: Genomics
publication date: 1992-11-01T00:00:00
year: 1992
type: Academic Article
type: Article
type: Document
type: Information Resource

Allelic expression of the NF2 gene in neurofibromatosis 2 and schwannomatosis.
PubMed Identifier: 10369886
author list: Jacoby LB, MacCollin M, Parry DM, Kluwe L, Lynch J, Jones D, Gusella JF
published in: Neurogenetics
information resource reference: Allelic expression of the NF2 gene in neurofibromatosis 2 and schwannomatosis. Neurogenetics. 1999 Apr; 2(2):101-8.
journal title abbreviation: Neurogenetics
publication date: 1999-04-01T00:00:00
year: 1999
type: Academic Article
type: Article
type: Document
type: Information Resource

Assay by polymerase chain reaction (PCR) of multi-allele polymorphisms in the Huntington's disease region of chromosome 4.
PubMed Identifier: 1480191
author list: Allitto BA, McClatchey AI, Barnes G, Altherr M, Wasmuth J, Frischauf AM, MacDonald ME, Gusella J
published in: Molecular and cellular probes
information resource reference: Assay by polymerase chain reaction (PCR) of multi-allele polymorphisms in the Huntington's disease region of chromosome 4. Mol Cell Probes. 1992 Dec; 6(6):513-20.
journal title abbreviation: Mol Cell Probes
publication date: 1992-12-01T00:00:00
year: 1992
type: Academic Article
type: Article
type: Document
type: Information Resource

Psychiatric, genetic, and positron emission tomographic evaluation of persons at risk for Huntington's disease.
PubMed Identifier: 1532304
author list: Baxter LR, Mazziotta JC, Pahl JJ, Grafton ST, St George-Hyslop P, Haines JL, Gusella JF, Szuba MP, Selin CE, Guze BH
published in: Archives of general psychiatry
information resource reference: Psychiatric, genetic, and positron emission tomographic evaluation of persons at risk for Huntington's disease. Arch Gen Psychiatry. 1992 Feb; 49(2):148-54.
journal title abbreviation: Arch Gen Psychiatry
publication date: 1992-02-01T00:00:00
year: 1992
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 100909
type: Authorship
author rank in publication: 7
linked author: Gusella, James
linked information resource: Identification of a presymptomatic molecular phenotype in Hdh CAG knock-in mice.

A single nucleotide polymorphism in the matrix metalloproteinase-1 promoter creates an Ets binding site and augments transcription.
PubMed Identifier: 9850057
author list: Rutter JL, Mitchell TI, Butticè G, Meyers J, Gusella JF, Ozelius LJ, Brinckerhoff CE
published in: Cancer research
information resource reference: A single nucleotide polymorphism in the matrix metalloproteinase-1 promoter creates an Ets binding site and augments transcription. Cancer Res. 1998 Dec 01; 58(23):5321-5.
journal title abbreviation: Cancer Res
publication date: 1998-12-01T00:00:00
year: 1998
type: Academic Article
type: Article
type: Document
type: Information Resource

Disruption of a large intergenic noncoding RNA in subjects with neurodevelopmental disabilities.
PubMed Identifier: 23217328
author list: Talkowski ME, Maussion G, Crapper L, Rosenfeld JA, Blumenthal I, Hanscom C, Chiang C, Lindgren A, Pereira S, Ruderfer D, Diallo AB, Lopez JP, Turecki G, Chen ES, Gigek C, Harris DJ, Lip V, An Y, Biagioli M, Macdonald ME, Lin M, Haggarty SJ, Sklar P, Purcell S, Kellis M, Schwartz S, Shaffer LG, Natowicz MR, Shen Y, Morton CC, Gusella JF, Ernst C
published in: American journal of human genetics
information resource reference: Disruption of a large intergenic noncoding RNA in subjects with neurodevelopmental disabilities. Am J Hum Genet. 2012 Dec 07; 91(6):1128-34.
journal title abbreviation: Am J Hum Genet
publication date: 2012-12-07T00:00:00
year: 2012
type: Academic Article
type: Article
type: Document
type: Information Resource

RFLPS at the D21S19 locus of human chromosome 21.
PubMed Identifier: 2997741
author list: Stewart GD, Tanzi RE, Gusella JF
published in: Nucleic acids research
information resource reference: RFLPS at the D21S19 locus of human chromosome 21. Nucleic Acids Res. 1985 Oct 11; 13(19):7168.
journal title abbreviation: Nucleic Acids Res
publication date: 1985-10-11T00:00:00
year: 1985
type: Academic Article
type: Article
type: Document
type: Information Resource

Huntingtons disease: linkage with G8 on chromosome 4 and its consequences.
PubMed Identifier: 3160047
author list: Conneally PM, Gusella JF, Wexler NS
published in: Progress in clinical and biological research
information resource reference: Huntingtons disease: linkage with G8 on chromosome 4 and its consequences. Prog Clin Biol Res. 1985; 177:53-60.
journal title abbreviation: Prog Clin Biol Res
publication date: 1985-01-01T00:00:00
year: 1985
type: Academic Article
type: Article
type: Document
type: Information Resource

Lack of association of rare functional variants in TSC1/TSC2 genes with autism spectrum disorder.
PubMed Identifier: 23514105
author list: Bahl S, Chiang C, Beauchamp RL, Neale BM, Daly MJ, Gusella JF, Talkowski ME, Ramesh V
published in: Molecular autism
information resource reference: Lack of association of rare functional variants in TSC1/TSC2 genes with autism spectrum disorder. Mol Autism. 2013 Mar 20; 4(1):5.
journal title abbreviation: Mol Autism
publication date: 2013-03-20T00:00:00
year: 2013
type: Academic Article
type: Article
type: Document
type: Information Resource

Mapping of a target region of allelic loss to a 0.5-cM interval on chromosome 22q13 in human colorectal cancer.
PubMed Identifier: 10500065
author list: Castells A, Ino Y, Louis DN, Ramesh V, Gusella JF, Rustgi AK
published in: Gastroenterology
information resource reference: Mapping of a target region of allelic loss to a 0.5-cM interval on chromosome 22q13 in human colorectal cancer. Gastroenterology. 1999 Oct; 117(4):831-7.
journal title abbreviation: Gastroenterology
publication date: 1999-10-01T00:00:00
year: 1999
type: Academic Article
type: Article
type: Document
type: Information Resource

Long glutamine tracts cause nuclear localization of a novel form of huntingtin in medium spiny striatal neurons in HdhQ92 and HdhQ111 knock-in mice.
PubMed Identifier: 10699173
author list: Wheeler VC, White JK, Gutekunst CA, Vrbanac V, Weaver M, Li XJ, Li SH, Yi H, Vonsattel JP, Gusella JF, Hersch S, Auerbach W, Joyner AL, MacDonald ME
published in: Human molecular genetics
information resource reference: Long glutamine tracts cause nuclear localization of a novel form of huntingtin in medium spiny striatal neurons in HdhQ92 and HdhQ111 knock-in mice. Hum Mol Genet. 2000 Mar 01; 9(4):503-13.
journal title abbreviation: Hum Mol Genet
publication date: 2000-03-01T00:00:00
year: 2000
type: Academic Article
type: Article
type: Document
type: Information Resource

The BCL3 locus on chromosome 19 displays an informative microsatellite polymorphism.
PubMed Identifier: 1542596
author list: St George-Hyslop PH, Ohno H, Gusella JF, McKeithan T
published in: Nucleic acids research
information resource reference: The BCL3 locus on chromosome 19 displays an informative microsatellite polymorphism. Nucleic Acids Res. 1992 Feb 25; 20(4):927.
journal title abbreviation: Nucleic Acids Res
publication date: 1992-02-25T00:00:00
year: 1992
type: Academic Article
type: Article
type: Document
type: Information Resource

Dinucleotide repeat polymorphism at the D9S117 locus (9q31-34).
PubMed Identifier: 1542603
author list: Kwiatkowski DJ, Gusella JF
published in: Nucleic acids research
information resource reference: Dinucleotide repeat polymorphism at the D9S117 locus (9q31-34). Nucleic Acids Res. 1992 Feb 25; 20(4):931.
journal title abbreviation: Nucleic Acids Res
publication date: 1992-02-25T00:00:00
year: 1992
type: Academic Article
type: Article
type: Document
type: Information Resource

Dinucleotide repeat polymorphism at the D9S123 locus (9q31-34).
PubMed Identifier: 1542608
author list: Kwaitkowski DJ, Gusella JF
published in: Nucleic acids research
information resource reference: Dinucleotide repeat polymorphism at the D9S123 locus (9q31-34). Nucleic Acids Res. 1992 Feb 25; 20(4):934.
journal title abbreviation: Nucleic Acids Res
publication date: 1992-02-25T00:00:00
year: 1992
type: Academic Article
type: Article
type: Document
type: Information Resource

The parental origin of new mutations in neurofibromatosis 2.
PubMed Identifier: 11085592
author list: Kluwe L, Mautner V, Parry DM, Jacoby LB, Baser M, Gusella J, Davis K, Stavrou D, MacCollin M
published in: Neurogenetics
information resource reference: The parental origin of new mutations in neurofibromatosis 2. Neurogenetics. 2000 Sep; 3(1):17-24.
journal title abbreviation: Neurogenetics
publication date: 2000-09-01T00:00:00
year: 2000
type: Academic Article
type: Article
type: Document
type: Information Resource

Genome-wide scan for Parkinson's disease: the GenePD Study.
PubMed Identifier: 11571351
author list: DeStefano AL, Golbe LI, Mark MH, Lazzarini AM, Maher NE, Saint-Hilaire M, Feldman RG, Guttman M, Watts RL, Suchowersky O, Lafontaine AL, Labelle N, Lew MF, Waters CH, Growdon JH, Singer C, Currie LJ, Wooten GF, Vieregge P, Pramstaller PP, Klein C, Hubble JP, Stacy M, Montgomery E, MacDonald ME, Gusella JF, Myers RH
published in: Neurology
information resource reference: Genome-wide scan for Parkinson's disease: the GenePD Study. Neurology. 2001 Sep 25; 57(6):1124-6.
journal title abbreviation: Neurology
publication date: 2001-09-25T00:00:00
year: 2001
type: Academic Article
type: Article
type: Document
type: Information Resource

The GPR54 gene as a regulator of puberty.
PubMed Identifier: 14573733
author list: Seminara SB, Messager S, Chatzidaki EE, Thresher RR, Acierno JS, Shagoury JK, Bo-Abbas Y, Kuohung W, Schwinof KM, Hendrick AG, Zahn D, Dixon J, Kaiser UB, Slaugenhaupt SA, Gusella JF, O'Rahilly S, Carlton MB, Crowley WF, Aparicio SA, Colledge WH
published in: The New England journal of medicine
information resource reference: The GPR54 gene as a regulator of puberty. N Engl J Med. 2003 Oct 23; 349(17):1614-27.
journal title abbreviation: N Engl J Med
publication date: 2003-10-23T00:00:00
year: 2003
type: Academic Article
type: Article
type: Document
type: Information Resource

The ETS genes on chromosome 21 are distal to the breakpoint of the acute myelogenous leukemia translocation (8;21).
PubMed Identifier: 3267212
author list: Sacchi N, Cheng SV, Tanzi RE, Gusella JF, Drabkin HA, Patterson D, Haines JH, Papas TS
published in: Genomics
information resource reference: The ETS genes on chromosome 21 are distal to the breakpoint of the acute myelogenous leukemia translocation (8;21). Genomics. 1988 Aug; 3(2):110-6.
journal title abbreviation: Genomics
publication date: 1988-08-01T00:00:00
year: 1988
type: Academic Article
type: Article
type: Document
type: Information Resource

Sequence analysis and mapping of a novel human mitochondrial ATP synthase subunit 9 cDNA (ATP5G3).
PubMed Identifier: 7698763
author list: Yan WL, Lerner TJ, Haines JL, Gusella JF
published in: Genomics
information resource reference: Sequence analysis and mapping of a novel human mitochondrial ATP synthase subunit 9 cDNA (ATP5G3). Genomics. 1994 Nov 15; 24(2):375-7.
journal title abbreviation: Genomics
publication date: 1994-11-15T00:00:00
year: 1994
type: Academic Article
type: Article
type: Document
type: Information Resource