Bullard Professor of Neurogenetics in the Department of Genetics
Varsanyi-Breiner A, Gusella JF, Keys C, Housman DE, Sullivan D, Brisson N, Verma DP
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.
The organization of a nuclear DNA sequence from a higher plant: molecular cloning and characterization of soybean ribosomal DNA.
No post-genetics era in human disease research. Nat Rev Genet. 2002 Jan; 3(1):72-9.
No post-genetics era in human disease research.
Gonzalez-Agosti C, Wiederhold T, Herndon ME, Gusella J, Ramesh V
Interdomain interaction of merlin isoforms and its influence on intermolecular binding to NHE-RF. J Biol Chem. 1999 Nov 26; 274(48):34438-42.
Interdomain interaction of merlin isoforms and its influence on intermolecular binding to NHE-RF.
Koizumi T, MacDonald M, Búcan M, Hopwood JJ, Morris CP, Scott HS, Gusella JF, Nadeau JH
Mammalian genome : official journal of the International Mammalian Genome Society
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.
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.
Lin CS, Altherr M, Bates G, Whaley WL, Read AP, Harris R, Lehrach H, Wasmuth JJ, Gusella JF, MacDonald ME
New DNA markers in the Huntington's disease gene candidate region. Somat Cell Mol Genet. 1991 Sep; 17(5):481-8.
New DNA markers in the Huntington's disease gene candidate region.
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
American journal of medical genetics. Part A
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.
Interaction of normal and expanded CAG repeat sizes influences age at onset of Huntington disease.
Gusella JF, Keys C, VarsanyiBreiner A, Kao FT, Jones C, Puck TT, Housman D
Proceedings of the National Academy of Sciences of the United States of America
Isolation and localization of DNA segments from specific human chromosomes. Proc Natl Acad Sci U S A. 1980 May; 77(5):2829-33.
Isolation and localization of DNA segments from specific human chromosomes.
Palmert MR, Golde TE, Cohen ML, Kovacs DM, Tanzi RE, Gusella JF, Usiak MF, Younkin LH, Younkin SG
Amyloid protein precursor messenger RNAs: differential expression in Alzheimer's disease. Science. 1988 Aug 26; 241(4869):1080-4.
Amyloid protein precursor messenger RNAs: differential expression in Alzheimer's disease.
Kim HG, Herrick SR, Lemyre E, Kishikawa S, Salisz JA, Seminara S, MacDonald ME, Bruns GA, Morton CC, Quade BJ, Gusella JF
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.
Hypogonadotropic hypogonadism and cleft lip and palate caused by a balanced translocation producing haploinsufficiency for FGFR1.
Tsiftsoglou AS, Wong W, Volloch V, Gusella J, Housman D
Progress in clinical and biological research
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.
Commitment of murine erythroleukemia (MEL) cells to terminal differentiation is associated with coordinated expression of globin and ribosomal genes.
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.
Molecular hybridization under conditions of high stringency permits cloned DNA segments containing reiterated DNA sequences to be assigned to specific chromosomal locations.
Sahin M, Slaugenhaupt SA, Gusella JF, Hockfield S
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.
Expression of PTPH1, a rat protein tyrosine phosphatase, is restricted to the derivatives of a specific diencephalic segment.
Ali G, Wasco W, Cai X, Szabo P, Sheu KF, Cooper AJ, Gaston SM, Gusella JF, Tanzi RE, Blass JP
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.
Isolation, characterization, and mapping of gene encoding dihydrolipoyl succinyltransferase (E2k) of human alpha-ketoglutarate dehydrogenase complex.
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
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.
Analysis of the c-FOS gene on chromosome 14 and the promoter of the amyloid precursor protein gene in familial Alzheimer's disease.
Gasser T, Wszolek Z, Supala A, Trofatter J, Ozelius L, Uitti RJ, Pfeiffer RF, Gusella J, Calne D, Breakefield XO
Genetic linkage studies in autosomal dominantly inherited L-DOPA responsive parkinsonism. Evaluation of candidate genes. Adv Neurol. 1996; 69:87-95.
Genetic linkage studies in autosomal dominantly inherited L-DOPA responsive parkinsonism. Evaluation of candidate genes.
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
NFIA haploinsufficiency is associated with a CNS malformation syndrome and urinary tract defects. PLoS Genet. 2007 May 25; 3(5):e80.
NFIA haploinsufficiency is associated with a CNS malformation syndrome and urinary tract defects.
Cuajungco MP, Leyne M, Mull J, Gill SP, Gusella JF, Slaugenhaupt SA
Cloning, characterization, and genomic structure of the mouse Ikbkap gene. DNA Cell Biol. 2001 Sep; 20(9):579-86.
Cloning, characterization, and genomic structure of the mouse Ikbkap gene.
Kondo I, Ohta H, Yazaki M, Ikeda JE, Gusella JF, Kanazawa I
Exclusion mapping of the hereditary dentatorubropallidoluysian atrophy gene from the Huntington's disease locus. J Med Genet. 1990 Feb; 27(2):105-8.
Exclusion mapping of the hereditary dentatorubropallidoluysian atrophy gene from the Huntington's disease locus.
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
Haplotypes and gene expression implicate the MAPT region for Parkinson disease: the GenePD Study. Neurology. 2008 Jul 01; 71(1):28-34.
Haplotypes and gene expression implicate the MAPT region for Parkinson disease: the GenePD Study.
Van Keuren ML, Stewart GD, Bradley CM, Kurnit DM, Neve RL, Watkins PC, Tanzi RE, Gusella JF, Patterson D
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.
Characterization of an unusual and complex chromosome 21 rearrangement using somatic cell genetics and cloned DNA probes.
Magenis RE, Gusella J, Weliky K, Olson S, Haight G, Toth-Fejel S, Sheehy R
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.
Huntington disease-linked restriction fragment length polymorphism localized within band p16.1 of chromosome 4 by in situ hybridization.
Recombinant DNA techniques in the diagnosis of inherited disorders. J Clin Invest. 1986 Jun; 77(6):1723-6.
Recombinant DNA techniques in the diagnosis of inherited disorders.
Chen X, Shen Y, Zhang F, Chiang C, Pillalamarri V, Blumenthal I, Talkowski M, Wu BL, Gusella JF
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.
Molecular analysis of a deletion hotspot in the NRXN1 region reveals the involvement of short inverted repeats in deletion CNVs.
Ramesh V, Shaffer MM, Allaire JM, Shih VE, Gusella JF
Investigation of gyrate atrophy using a cDNA clone for human ornithine aminotransferase. DNA. 1986 Dec; 5(6):493-501.
Investigation of gyrate atrophy using a cDNA clone for human ornithine aminotransferase.
Conneally PM, Wallace MR, Gusella JF, Wexler NS
Huntington disease: estimation of heterozygote status using linked genetic markers. Genet Epidemiol. 1984; 1(1):81-8.
Huntington disease: estimation of heterozygote status using linked genetic markers.
Use of cyclosporin A in establishing Epstein-Barr virus-transformed human lymphoblastoid cell lines. In Vitro. 1984 Nov; 20(11):856-8.
Use of cyclosporin A in establishing Epstein-Barr virus-transformed human lymphoblastoid cell lines.
Slaugenhaupt SA, Roca AL, Liebert CB, Altherr MR, Gusella JF, Reppert SM
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.
Mapping of the gene for the Mel1a-melatonin receptor to human chromosome 4 (MTNR1A) and mouse chromosome 8 (Mtnr1a).
Snell RG, Doucette-Stamm LA, Gillespie KM, Taylor SA, Riba L, Bates GP, Altherr MR, MacDonald ME, Gusella JF, Wasmuth JJ
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.
The isolation of cDNAs within the Huntington disease region by hybridisation of yeast artificial chromosomes to a cDNA library.
Dinucleotide repeat polymorphism at the debrisoquine 4-hydroxylase (CYP2D) locus. Nucleic Acids Res. 1991 May 25; 19(10):2802.
Dinucleotide repeat polymorphism at the debrisoquine 4-hydroxylase (CYP2D) locus.
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
Population-specific genetic modification of Huntington's disease in Venezuela. PLoS Genet. 2018 05; 14(5):e1007274.
Population-specific genetic modification of Huntington's disease in Venezuela.
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
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.
Genome-wide significance for a modifier of age at neurological onset in Huntington's disease at 6q23-24: the HD MAPS study.
Pichler I, Marroni F, Volpato CB, Gusella JF, Klein C, Casari G, De Grandi A, Pramstaller PP
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.
Linkage analysis identifies a novel locus for restless legs syndrome on chromosome 2q in a South Tyrolean population isolate.
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
Herbicide exposure modifies GSTP1 haplotype association to Parkinson onset age: the GenePD Study. Neurology. 2006 Dec 26; 67(12):2206-10.
Herbicide exposure modifies GSTP1 haplotype association to Parkinson onset age: the GenePD Study.
Lee JM, Ivanova EV, Seong IS, Cashorali T, Kohane I, Gusella JF, MacDonald ME
Unbiased gene expression analysis implicates the huntingtin polyglutamine tract in extra-mitochondrial energy metabolism. PLoS Genet. 2007 Aug; 3(8):e135.
Unbiased gene expression analysis implicates the huntingtin polyglutamine tract in extra-mitochondrial energy metabolism.
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
Copy number variation in familial Parkinson disease. PLoS One. 2011; 6(8):e20988.
Copy number variation in familial Parkinson disease.
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
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.
Assessment of 2q23.1 microdeletion syndrome implicates MBD5 as a single causal locus of intellectual disability, epilepsy, and autism spectrum disorder.
MacDonald ME, Lin C, Srinidhi L, Bates G, Altherr M, Whaley WL, Lehrach H, Wasmuth J, Gusella JF
Complex patterns of linkage disequilibrium in the Huntington disease region. Am J Hum Genet. 1991 Oct; 49(4):723-34.
Complex patterns of linkage disequilibrium in the Huntington disease region.
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
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.
Next-generation sequencing strategies enable routine detection of balanced chromosome rearrangements for clinical diagnostics and genetic research.
Rouleau GA, Wertelecki W, Haines JL, Hobbs WJ, Trofatter JA, Seizinger BR, Martuza RL, Superneau DW, Conneally PM, Gusella JF
Genetic linkage of bilateral acoustic neurofibromatosis to a DNA marker on chromosome 22. Nature. 1987 Sep 17-23; 329(6136):246-8.
Genetic linkage of bilateral acoustic neurofibromatosis to a DNA marker on chromosome 22.
Phelan MC, Morton CC, Stevenson RE, Tanzi RE, Stewart GD, Watkins PC, Gusella JF, Amos JA
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.
Molecular and cytogenetic characterization of a de novo t(5p;21q) in a patient previously diagnosed as monosomy 21.
Fontaine B, Hanson MP, VonSattel JP, Martuza RL, Gusella JF
Loss of chromosome 22 alleles in human sporadic spinal schwannomas. Ann Neurol. 1991 Feb; 29(2):183-6.
Loss of chromosome 22 alleles in human sporadic spinal schwannomas.
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
Human chromosome 7: DNA sequence and biology. Science. 2003 May 02; 300(5620):767-72.
Human chromosome 7: DNA sequence and biology.
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
Traditional and systems biology based drug discovery for the rare tumor syndrome neurofibromatosis type 2. PLoS One. 2018; 13(6):e0197350.
Traditional and systems biology based drug discovery for the rare tumor syndrome neurofibromatosis type 2.
Research publications - Association for Research in Nervous and Mental Disease
A molecular genetic approach to Huntington's disease. Res Publ Assoc Res Nerv Ment Dis. 1987; 65:133-41.
A molecular genetic approach to Huntington's disease.
Harper PS, Youngman S, Anderson MA, Sarfarazi M, Quarrell O, Tanzi R, Shaw D, Wallace P, Conneally PM, Gusella JF
Genetic linkage between Huntington's disease and the DNA polymorphism G8 in South Wales families. J Med Genet. 1985 Dec; 22(6):447-50.
Genetic linkage between Huntington's disease and the DNA polymorphism G8 in South Wales families.
Report of the Committee on the Genetic Constitution of Chromosomes 3 and 4. Cytogenet Cell Genet. 1985; 40(1-4):107-27.
Report of the Committee on the Genetic Constitution of Chromosomes 3 and 4.
Pflugers Archiv : European journal of physiology
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.
Modification of the Na+ current conducted by the rat skeletal muscle alpha subunit by coexpression with a human brain beta subunit.
Kozman HM, Keith TP, Donis-Keller H, White RL, Weissenbach J, Dean M, Vergnaud G, Kidd K, Gusella J, Royle NJ
The CEPH consortium linkage map of human chromosome 16. Genomics. 1995 Jan 01; 25(1):44-58.
The CEPH consortium linkage map of human chromosome 16.
Giordani B, Berent S, Boivin MJ, Penney JB, Lehtinen S, Markel DS, Hollingsworth Z, Butterbaugh G, Hichwa RD, Gusella JF
Longitudinal neuropsychological and genetic linkage analysis of persons at risk for Huntington's disease. Arch Neurol. 1995 Jan; 52(1):59-64.
Longitudinal neuropsychological and genetic linkage analysis of persons at risk for Huntington's disease.
Gusella JF, Gilliam TC, Tanzi RE, MacDonald ME, Cheng SV, Wallace M, Haines J, Conneally PM, Wexler NS
Cold Spring Harbor symposia on quantitative biology
Molecular genetics of Huntington's disease. Cold Spring Harb Symp Quant Biol. 1986; 51 Pt 1:359-64.
Molecular genetics of Huntington's disease.
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
Common SNP-based haplotype analysis of the 4p16.3 Huntington disease gene region. Am J Hum Genet. 2012 Mar 09; 90(3):434-44.
Common SNP-based haplotype analysis of the 4p16.3 Huntington disease gene region.
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
Amyotrophic lateral sclerosis : official publication of the World Federation of Neurology Research Group on Motor Neuron Diseases
Prevalence of Huntington's disease gene CAG repeat alleles in sporadic amyotrophic lateral sclerosis patients. Amyotroph Lateral Scler. 2012 May; 13(3):265-9.
Prevalence of Huntington's disease gene CAG repeat alleles in sporadic amyotrophic lateral sclerosis patients.
Smith MJ, Walker JA, Shen Y, Stemmer-Rachamimov A, Gusella JF, Plotkin SR
Expression of SMARCB1 (INI1) mutations in familial schwannomatosis. Hum Mol Genet. 2012 Dec 15; 21(24):5239-45.
Expression of SMARCB1 (INI1) mutations in familial schwannomatosis.
Doucette-Stamm LA, Riba L, Handelin B, Difilippantonio M, Ward DC, Wasmuth JJ, Gusella JF, Housman DE
Generation and characterization of irradiation hybrids of human chromosome 4. Somat Cell Mol Genet. 1991 Sep; 17(5):471-80.
Generation and characterization of irradiation hybrids of human chromosome 4.
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
A haplotype at the PARK3 locus influences onset age for Parkinson's disease: the GenePD study. Neurology. 2003 Dec 09; 61(11):1557-61.
A haplotype at the PARK3 locus influences onset age for Parkinson's disease: the GenePD study.
Manchanda N, Lyubimova A, Ho HY, James MF, Gusella JF, Ramesh N, Snapper SB, Ramesh V
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.
The NF2 tumor suppressor Merlin and the ERM proteins interact with N-WASP and regulate its actin polymerization function.
Lee MF, Beauchamp RL, Beyer KS, Gusella JF, Ramesh V
Biochemical and biophysical research communications
Magicin associates with the Src-family kinases and is phosphorylated upon CD3 stimulation. Biochem Biophys Res Commun. 2006 Sep 29; 348(3):826-31.
Magicin associates with the Src-family kinases and is phosphorylated upon CD3 stimulation.
Detailed genetic linkage map of human chromosome 21: patterns of recombination according to age and sex. Prog Clin Biol Res. 1990; 360:15-26.
Detailed genetic linkage map of human chromosome 21: patterns of recombination according to age and sex.
Tsiftsoglou AS, Gusella JF, Volloch V, Housman DE
Inhibition by dexamethasone of commitment to erythroid differentiation in murine erythroleukemia cells. Cancer Res. 1979 Oct; 39(10):3849-55.
Inhibition by dexamethasone of commitment to erythroid differentiation in murine erythroleukemia cells.
James MF, Han S, Polizzano C, Plotkin SR, Manning BD, Stemmer-Rachamimov AO, Gusella JF, Ramesh V
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.
NF2/merlin is a novel negative regulator of mTOR complex 1, and activation of mTORC1 is associated with meningioma and schwannoma growth.
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
Genomewide association study for onset age in Parkinson disease. BMC Med Genet. 2009 Sep 22; 10:98.
Genomewide association study for onset age in Parkinson disease.
FASEB journal : official publication of the Federation of American Societies for Experimental Biology
Location cloning strategy for characterizing genetic defects in Huntington's disease and Alzheimer's disease. FASEB J. 1989 Jul; 3(9):2036-41.
Location cloning strategy for characterizing genetic defects in Huntington's disease and Alzheimer's disease.
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
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.
Opposing Tumor-Promoting and -Suppressive Functions of Rictor/mTORC2 Signaling in Adult Glioma and Pediatric SHH Medulloblastoma.
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
EPH receptor signaling as a novel therapeutic target in NF2-deficient meningioma. Neuro Oncol. 2018 08 02; 20(9):1185-1196.
EPH receptor signaling as a novel therapeutic target in NF2-deficient meningioma.
MacDonald ME, Anderson MA, Gilliam TC, Tranejaerg L, Carpenter NJ, Magenis E, Hayden MR, Healey ST, Bonner TI, Gusella JF
A somatic cell hybrid panel for localizing DNA segments near the Huntington's disease gene. Genomics. 1987 Sep; 1(1):29-34.
A somatic cell hybrid panel for localizing DNA segments near the Huntington's disease gene.
Richards JE, Gilliam TC, Cole JL, Drumm ML, Wasmuth JJ, Gusella JF, Collins FS
Chromosome jumping from D4S10 (G8) toward the Huntington disease gene. Proc Natl Acad Sci U S A. 1988 Sep; 85(17):6437-41.
Chromosome jumping from D4S10 (G8) toward the Huntington disease gene.
Tanzi RE, Gusella JF, Watkins PC, Bruns GA, St George-Hyslop P, Van Keuren ML, Patterson D, Pagan S, Kurnit DM, Neve RL
Amyloid beta protein gene: cDNA, mRNA distribution, and genetic linkage near the Alzheimer locus. Science. 1987 Feb 20; 235(4791):880-4.
Amyloid beta protein gene: cDNA, mRNA distribution, and genetic linkage near the Alzheimer locus.
Seizinger BR, de la Monte S, Atkins L, Gusella JF, Martuza RL
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.
Molecular genetic approach to human meningioma: loss of genes on chromosome 22.
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Partial linkage map of chromosome 13q in the region of the Wilson disease and retinoblastoma genes.
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KCTD13 is a major driver of mirrored neuroanatomical phenotypes of the 16p11.2 copy number variant.
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Annals of the New York Academy of Sciences
Genetic linkage map for chromosome 21. Ann N Y Acad Sci. 1985; 450:25-31.
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A DNA probe, D5 [D4S90] mapping to human chromosome 4p16.3. Nucleic Acids Res. 1988 Feb 25; 16(4):1648.
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The putative glioma tumor suppressor gene on chromosome 19q maps between APOC2 and HRC.
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Mapping of a human A2a adenosine receptor (ADORA2) to chromosome 22.
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Single sperm analysis of the trinucleotide repeats in the Huntington's disease gene: quantification of the mutation frequency spectrum.
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A locus for cerebral cavernous malformations maps to chromosome 7q in two families.
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Expanding the phenotype and genotype of female GnRH deficiency. J Clin Endocrinol Metab. 2011 Mar; 96(3):E566-76.
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Mapping of the mucolipidosis type IV gene to chromosome 19p and definition of founder haplotypes.
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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.
Molecular characterization of a second melatonin receptor expressed in human retina and brain: the Mel1b melatonin receptor.
Chromosomal localization of the gene for human B-cell antigen CD40. Somat Cell Mol Genet. 1993 May; 19(3):295-8.
Chromosomal localization of the gene for human B-cell antigen CD40.
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Apolipoprotein E4 allele and Alzheimer disease: examination of allelic association and effect on age at onset in both early- and late-onset cases.
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A high-resolution linkage map of human 9q34.1. Genomics. 1993 Sep; 17(3):587-91.
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The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques
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Hunting for Huntington's disease. Mol Genet Med. 1993; 3:139-58.
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CHD8 suppression impacts on histone H3 lysine 36 trimethylation and alters RNA alternative splicing. Nucleic Acids Res. 2022 12 09; 50(22):12809-12828.
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Mary Ellen Avery Professor of Pediatrics
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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.
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Modification of Huntington's disease by short tandem repeats.
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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.
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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.
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Identification of genetic modifiers of Huntington's disease somatic CAG repeat instability by in vivo CRISPR-Cas9 genome editing.
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Genetic modifiers of somatic expansion and clinical phenotypes in Huntington's disease reveal shared and tissue-specific effects.
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Assessing Population Level Genetic Instability via Moving Average. Stat Biosci. 2010 Dec; 2(2):120-136.
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Mosaic copy number variation in schizophrenia. Eur J Hum Genet. 2013 Sep; 21(9):1007-11.
Mosaic copy number variation in schizophrenia.
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Haploinsufficiency of KDM6A is associated with severe psychomotor retardation, global growth restriction, seizures and cleft palate. Hum Genet. 2013 May; 132(5):537-52.
Haploinsufficiency of KDM6A is associated with severe psychomotor retardation, global growth restriction, seizures and cleft palate.
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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.
Resolution of ring chromosomes, Robertsonian translocations, and complex structural variants from long-read sequencing and telomere-to-telomere assembly.
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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.
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Candidate glutamatergic and dopaminergic pathway gene variants do not influence Huntington's disease motor onset.
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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.
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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.
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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.
Describing sequencing results of structural chromosome rearrangements with a suggested next-generation cytogenetic nomenclature.
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HD CAGnome: a search tool for huntingtin CAG repeat length-correlated genes. PLoS One. 2014; 9(4):e95556.
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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.
Transcriptional consequences of 16p11.2 deletion and duplication in mouse cortex and multiplex autism families.
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Aberrant recursive splicing in a human disease locus. bioRxiv. 2025 Aug 15.
Aberrant recursive splicing in a human disease locus.
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The risks and benefits of being a young female adolescent standardised patient. Med Educ. 2006 Jan; 40(1):26-35.
The risks and benefits of being a young female adolescent standardised patient.
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TRACE: Open-Source Software for Quantifying Somatic Variation of Tandem Repeats by Capillary Electrophoresis.
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Significant underascertainment in Huntington's disease.
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Further molecular characterisation of the OVT73 transgenic sheep model of Huntington's disease identifies cortical aggregates. J Huntingtons Dis. 2013; 2(3):279-95.
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Genetic modifiers of Huntington's disease. Mov Disord. 2014 Sep 15; 29(11):1359-65.
Genetic modifiers of Huntington's disease.
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The Drosophila Huntington's disease gene ortholog dhtt influences chromatin regulation during development. Hum Mol Genet. 2015 Jan 15; 24(2):330-45.
The Drosophila Huntington's disease gene ortholog dhtt influences chromatin regulation during development.
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Huntingtin Supplies a csaA-Independent Function Essential for EDTA-Resistant Homotypic Cell Adhesion in Dictyostelium discoideum. J Huntingtons Dis. 2014; 3(3):261-71.
Huntingtin Supplies a csaA-Independent Function Essential for EDTA-Resistant Homotypic Cell Adhesion in Dictyostelium discoideum.
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CHD8 regulates neurodevelopmental pathways associated with autism spectrum disorder in neural progenitors.
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Functionally compromised CHD7 alleles in patients with isolated GnRH deficiency. Proc Natl Acad Sci U S A. 2014 Dec 16; 111(50):17953-8.
Functionally compromised CHD7 alleles in patients with isolated GnRH deficiency.
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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.
MATR3 disruption in human and mouse associated with bicuspid aortic valve, aortic coarctation and patent ductus arteriosus.
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Htt CAG repeat expansion confers pleiotropic gains of mutant huntingtin function in chromatin regulation.
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Prevalence of Huntington's disease gene CAG trinucleotide repeat alleles in patients with bipolar disorder.
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Haplotype analysis of the 4p16.3 region in Portuguese families with Huntington's disease.
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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.
A Potential Contributory Role for Ciliary Dysfunction in the 16p11.2 600 kb BP4-BP5 Pathology.
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Paired-Duplication Signatures Mark Cryptic Inversions and Other Complex Structural Variation. Am J Hum Genet. 2015 Jul 02; 97(1):170-6.
Paired-Duplication Signatures Mark Cryptic Inversions and Other Complex Structural Variation.
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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.
A high-throughput kinome screen reveals serum/glucocorticoid-regulated kinase 1 as a therapeutic target for NF2-deficient meningiomas.
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Sequence-Level Analysis of the Major European Huntington Disease Haplotype.
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The Genetic Modifiers of Motor OnsetAge (GeM MOA) Website: Genome-wide Association Analysis for Genetic Modifiers of Huntington's Disease.
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Mediator Subunit Med28 Is Essential for Mouse Peri-Implantation Development and Pluripotency. PLoS One. 2015; 10(10):e0140192.
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Journal of the American Society of Nephrology : JASN
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RNA Sequence Analysis of Human Huntington Disease Brain Reveals an Extensive Increase in Inflammatory and Developmental Gene Expression.
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Clinical-Genetic Associations in the Prospective Huntington at Risk Observational Study (PHAROS): Implications for Clinical Trials.
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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.
The HTT CAG-Expansion Mutation Determines Age at Death but Not Disease Duration in Huntington Disease.
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
Metabolic disruption identified in the Huntington's disease transgenic sheep model. Sci Rep. 2016 Feb 11; 6:20681.
Metabolic disruption identified in the Huntington's disease transgenic sheep model.
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
Engineering microdeletions and microduplications by targeting segmental duplications with CRISPR. Nat Neurosci. 2016 Mar; 19(3):517-22.
Engineering microdeletions and microduplications by targeting segmental duplications with CRISPR.
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
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.
Actin capping protein CAPZB regulates cell morphology, differentiation, and neural crest migration in craniofacial morphogenesis†.
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
Mutated Huntingtin Causes Testicular Pathology in Transgenic Minipig Boars. Neurodegener Dis. 2016; 16(3-4):245-59.
Mutated Huntingtin Causes Testicular Pathology in Transgenic Minipig Boars.
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
Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research
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.
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.
Bates GP, Dorsey R, Gusella JF, Hayden MR, Kay C, Leavitt BR, Nance M, Ross CA, Scahill RI, Wetzel R, Wild EJ, Tabrizi SJ
Huntington disease. Nat Rev Dis Primers. 2015 04 23; 1:15005.
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
CSF1R mosaicism in a family with hereditary diffuse leukoencephalopathy with spheroids. Brain. 2016 06; 139(Pt 6):1666-72.
CSF1R mosaicism in a family with hereditary diffuse leukoencephalopathy with spheroids.
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
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Estrogen-related receptor gamma implicated in a phenotype including hearing loss and mild developmental delay.
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
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Large-scale phenome analysis defines a behavioral signature for Huntington's disease genotype in mice.
Project 3 Function of Kindlin-3 in blood and endothelial cells
Molecular Genetics of Inherited Neurological Diseases
ORDERED OVERLAPPING COSMID CLONES--CHROMOSOME 21/22
Molecular Etiology of Early Onset Torsion Dystonia
HUNTINGTONS DISEASE CENTER WITHOUT WALLS
REFERENCE PEDIGREES FOR HUMAN GENETIC LINKAGE ANALYSIS
Huntington's Disease Center Without Walls
Dissecting recurrent microdeletion syndromes using dual-guide genome editing
DGAP: Developmental Genome Anatomy Project
EXTRACTING GENES FROM CLONED SEQUENCE DNA
Genetic modifiers of Predict-HD phenotypes
Massachusetts Alzheimer's Disease Research Center
Genes disrupted by balanced genomic rearrangements in autism spectrum disorders
Disease-Modifying Genes in Huntington's Disease
Informatics for Integrating Biology &the Bedside (i2b2)
Toward a molecular classification of human gliomas
GENETIC AND MOLECULAR STUDIES OF NEUROFIBROMATOSIS 1
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Implication of LRRC4C and DPP6 in neurodevelopmental disorders. Am J Med Genet A. 2017 Feb; 173(2):395-406.
Implication of LRRC4C and DPP6 in neurodevelopmental disorders.
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
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.
Structural Chromosomal Rearrangements Require Nucleotide-Level Resolution: Lessons from Next-Generation Sequencing in Prenatal Diagnosis.
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The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies. Nat Genet. 2017 01; 49(1):36-45.
The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies.
Rodan LH, Cohen J, Fatemi A, Gillis T, Lucente D, Gusella J, Picker JD
A novel neurodevelopmental disorder associated with compound heterozygous variants in the huntingtin gene. Eur J Hum Genet. 2016 12; 24(12):1826-1827.
A novel neurodevelopmental disorder associated with compound heterozygous variants in the huntingtin gene.
A novel neurodevelopmental disorder associated with compound heterozygous variants in the huntingtin gene. Eur J Hum Genet. 2016 12; 24(12):1833.
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
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.
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.
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
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.
SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome.
Cover Image, Volume 173A, Number 2, February 2017. Am J Med Genet A. 2017 Feb; 173(2):i.
Cover Image, Volume 173A, Number 2, February 2017.
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
Potential molecular consequences of transgene integration: The R6/2 mouse example. Sci Rep. 2017 01 25; 7:41120.
Potential molecular consequences of transgene integration: The R6/2 mouse example.
Shin JW, Kim KH, Chao MJ, Atwal RS, Gillis T, MacDonald ME, Gusella JF, Lee JM
Permanent inactivation of Huntington's disease mutation by personalized allele-specific CRISPR/Cas9. Hum Mol Genet. 2016 10 15; 25(20):4566-4576.
Permanent inactivation of Huntington's disease mutation by personalized allele-specific CRISPR/Cas9.
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
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.
Novel allele-specific quantification methods reveal no effects of adult onset CAG repeats on HTT mRNA and protein levels.
Permanent inactivation of Huntington's disease mutation by personalized allele-specific CRISPR/Cas9. Hum Mol Genet. 2016 Sep 15.
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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.
Germ-line mutations in the neurofibromatosis 2 gene: correlations with disease severity and retinal abnormalities.
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Identification of a mouse brain cDNA that encodes a protein related to the Alzheimer disease-associated amyloid beta protein precursor.
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A point mutation associated with a severe phenotype of neurofibromatosis 2. Ann Neurol. 1996 Sep; 40(3):440-5.
A point mutation associated with a severe phenotype of neurofibromatosis 2.
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Two independent dinucleotide repeat polymorphisms at the D21S235 locus (21q22.1). Hum Mol Genet. 1992 Nov; 1(8):651.
Two independent dinucleotide repeat polymorphisms at the D21S235 locus (21q22.1).
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A 15-bp deletion in exon 5 of the ornithine aminotransferase (OAT) locus associated with gyrate atrophy. Hum Mutat. 1992; 1(4):293-7.
A 15-bp deletion in exon 5 of the ornithine aminotransferase (OAT) locus associated with gyrate atrophy.
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Molecular heterogeneity of late-onset forms of globoid-cell leukodystrophy. Am J Hum Genet. 1996 Dec; 59(6):1233-42.
Molecular heterogeneity of late-onset forms of globoid-cell leukodystrophy.
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Identification and characterization of two novel tetratricopeptide repeat-containing genes. DNA Cell Biol. 1996 Sep; 15(9):727-35.
Identification and characterization of two novel tetratricopeptide repeat-containing genes.
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Frequency and distribution of NF2 mutations in schwannomas. Genes Chromosomes Cancer. 1996 Sep; 17(1):45-55.
Frequency and distribution of NF2 mutations in schwannomas.
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
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.
Refined localization of the cerebral cavernous malformation gene (CCM1) to a 4-cM interval of chromosome 7q contained in a well-defined YAC contig.
Huang Q, Zhou D, Chase K, Gusella JF, Aronin N, DiFiglia M
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.
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.
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Genetic evidence for a novel familial Alzheimer's disease locus on chromosome 14. Nat Genet. 1992 Dec; 2(4):330-4.
Genetic evidence for a novel familial Alzheimer's disease locus on chromosome 14.
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Dinucleotide repeat polymorphisms (D21S223 and D21S224) at 21q22.1.
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The merlin tumor suppressor localizes preferentially in membrane ruffles. Oncogene. 1996 Sep 19; 13(6):1239-47.
The merlin tumor suppressor localizes preferentially in membrane ruffles.
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Hypokalemic periodic paralysis mutations: confirmation of mutation and analysis of founder effect. Neuromuscul Disord. 1996 Jan; 6(1):27-31.
Hypokalemic periodic paralysis mutations: confirmation of mutation and analysis of founder effect.
Grosson CL, Cannon SC, Corey DP, Gusella JF
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Sequence of the voltage-gated sodium channel beta1-subunit in wild-type and in quivering mice.
Murthy A, Gonzalez-Agosti C, Cordero E, Pinney D, Candia C, Solomon F, Gusella J, Ramesh V
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NHE-RF, a regulatory cofactor for Na(+)-H+ exchange, is a common interactor for merlin and ERM (MERM) proteins.
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Molecular neurobiology and genetics: investigation of neural function and dysfunction.
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The NF2 gene and merlin protein in human osteosarcomas. Neurogenetics. 1998 Dec; 2(1):73-4.
The NF2 gene and merlin protein in human osteosarcomas.
Scott HS, Nelson PV, MacDonald ME, Gusella JF, Hopwood JJ, Morris CP
An 86-bp VNTR within IDUA is the basis of the D4S111 polymorphic locus. Genomics. 1992 Dec; 14(4):1118-20.
An 86-bp VNTR within IDUA is the basis of the D4S111 polymorphic locus.
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Dinucleotide repeat polymorphism at the D9S119 locus (9q22-34).
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Flanking markers bracket the neurofibromatosis type 2 (NF2) gene on chromosome 22. Am J Hum Genet. 1990 Feb; 46(2):323-8.
Flanking markers bracket the neurofibromatosis type 2 (NF2) gene on chromosome 22.
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Rescue of a Drosophila NF1 mutant phenotype by protein kinase A.
McClatchey AI, McKenna-Yasek D, Cros D, Worthen HG, Kuncl RW, DeSilva SM, Cornblath DR, Gusella JF, Brown RH
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Novel mutations in families with unusual and variable disorders of the skeletal muscle sodium channel.
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Mapping of ornithine aminotransferase gene sequences to mouse chromosomes 7, X, and 3.
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Molecular analysis of the NF2 tumor-suppressor gene in schwannomatosis.
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Evidence for the GluR6 gene associated with younger onset age of Huntington's disease.
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Defined physical limits of the Huntington disease gene candidate region.
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Evidence for a modifier of onset age in Huntington disease linked to the HD gene in 4p16.
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Localization of one gene for tuberous sclerosis within 9q32-9q34, and further evidence for heterogeneity.
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Dinucleotide repeat polymorphism (D16S285) on human chromosome 16.
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CAG repeat number governs the development rate of pathology in Huntington's disease.
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A dinucleotide repeat polymorphism at the D4S127 locus. Hum Mol Genet. 1992 May; 1(2):142.
A dinucleotide repeat polymorphism at the D4S127 locus.
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The alpha-subunit of the skeletal muscle sodium channel is encoded proximal to Tk-1 on mouse chromosome 11.
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
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Exon trapping and sequence-based methods of gene finding in transcript mapping of human 4p16.3.
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Population stratification may bias analysis of PGC-1a as a modifier of age at Huntington disease motor onset.
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Control of proliferation and differentiation in cells transformed by Friend virus. Cold Spring Harb Symp Quant Biol. 1980; 44 Pt 2,:1177-85.
Control of proliferation and differentiation in cells transformed by Friend virus.
Locke PA, MacDonald ME, Srinidhi J, Gilliam TC, Tanzi RE, Conneally PM, Wexler NS, Haines JL, Gusella JF
A genetic linkage map of the chromosome 4 short arm. Somat Cell Mol Genet. 1993 Jan; 19(1):95-101.
A genetic linkage map of the chromosome 4 short arm.
Watanabe M, Kondo I, Nissato S, Wakisaka A, Toda T, Ikeda J, Wasmuth JJ, Gusella JF, Kanazawa I
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.
A linkage study with DNA markers (D4S95, D4S115, and D4S111) in Japanese Huntington disease families.
Peterfreund RA, MacCollin M, Gusella J, Fink JS
Characterization and expression of the human A2a adenosine receptor gene. J Neurochem. 1996 Jan; 66(1):362-8.
Characterization and expression of the human A2a adenosine receptor gene.
Eng CM, Slaugenhaupt SA, Blumenfeld A, Axelrod FB, Gusella JF, Desnick RJ
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.
Prenatal diagnosis of familial dysautonomia by analysis of linked CA-repeat polymorphisms on chromosome 9q31-q33.
Trinucleotide instability: a repeating theme in human inherited disorders. Annu Rev Med. 1996; 47:201-9.
Trinucleotide instability: a repeating theme in human inherited disorders.
Kaplan L, Foster R, Shen Y, Parry DM, McMaster ML, O'Leary MC, Gusella JF
Monozygotic twins discordant for neurofibromatosis 1. Am J Med Genet A. 2010 Mar; 152A(3):601-6.
Monozygotic twins discordant for neurofibromatosis 1.
Watkins PC, Eddy R, Hoffman N, Stanislovitis P, Beck AK, Galli J, Vellucci V, Gusella JF, Shows TB
Regional assignment of the erythropoietin gene to human chromosome region 7pter----q22. Cytogenet Cell Genet. 1986; 42(4):214-8.
Regional assignment of the erythropoietin gene to human chromosome region 7pter----q22.
Pericak-Vance MA, Meyers DA, Gusella JF, Folstein SE, Conneally PM
Genetic analysis workshop IV: Huntington disease linkage analysis, data description. Genet Epidemiol Suppl. 1986; 1:193-6.
Genetic analysis workshop IV: Huntington disease linkage analysis, data description.
Loss of genes on chromosome 22 in tumorigenesis of human acoustic neuroma. Nature. 1986 Aug 14-20; 322(6080):644-7.
Loss of genes on chromosome 22 in tumorigenesis of human acoustic neuroma.
Velinov M, Slaugenhaupt SA, Stoilov I, Scott CI, Gusella JF, Tsipouras P
The gene for achondroplasia maps to the telomeric region of chromosome 4p. Nat Genet. 1994 Mar; 6(3):314-7.
The gene for achondroplasia maps to the telomeric region of chromosome 4p.
McClatchey AI, Cannon SC, Slaugenhaupt SA, Gusella JF
The cloning and expression of a sodium channel beta 1-subunit cDNA from human brain. Hum Mol Genet. 1993 Jun; 2(6):745-9.
The cloning and expression of a sodium channel beta 1-subunit cDNA from human brain.
McQueen M, MacCollin M, Gusella J, Plotkin SR
The Journal of neuroscience nursing : journal of the American Association of Neuroscience Nurses
Patient and physician attitudes regarding clinical trials in neurofibromatosis 1. J Neurosci Nurs. 2008 Dec; 40(6):341-5.
Patient and physician attitudes regarding clinical trials in neurofibromatosis 1.
Tanzi RE, St George-Hyslop PH, Gusella JF
Molecular genetic approaches to Alzheimer's disease. Trends Neurosci. 1989 Apr; 12(4):152-8.
Molecular genetic approaches to Alzheimer's disease.
LaFemina J, Roberts PA, Hung YP, Gusella JF, Sahani D, Fernández-del Castillo C, Warshaw AL, Thayer SP
Pancreatology : official journal of the International Association of Pancreatology (IAP) ... [et al.]
Identification of a novel kindred with familial pancreatitis and pancreatic cancer. Pancreatology. 2009; 9(3):273-9.
Identification of a novel kindred with familial pancreatitis and pancreatic cancer.
Zabel BU, Naylor SL, Sakaguchi AY, Gusella JF
Mapping of the DNA locus D4S10 and the linked Huntington's disease gene to 4p16----p15. Cytogenet Cell Genet. 1986; 42(4):187-90.
Mapping of the DNA locus D4S10 and the linked Huntington's disease gene to 4p16----p15.
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
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.
Translocations disrupting PHF21A in the Potocki-Shaffer-syndrome region are associated with intellectual disability and craniofacial anomalies.
DNA polymorphism and human disease. Annu Rev Biochem. 1986; 55:831-54.
Trofatter JA, Sytsma ML, Gusella JF, Haines JL
Dinucleotide repeat polymorphism at the topoisomerase (DNA) I pseudogene 2 (TOPIP2). Hum Mol Genet. 1992 Sep; 1(6):455.
Dinucleotide repeat polymorphism at the topoisomerase (DNA) I pseudogene 2 (TOPIP2).
Leeflang EP, Tavaré S, Marjoram P, Neal CO, Srinidhi J, MacFarlane H, MacDonald ME, Gusella JF, de Young M, Wexler NS, Arnheim N
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.
Analysis of germline mutation spectra at the Huntington's disease locus supports a mitotic mutation mechanism.
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
Pain correlates with germline mutation in schwannomatosis. Medicine (Baltimore). 2018 Feb; 97(5):e9717.
Pain correlates with germline mutation in schwannomatosis.
Ozelius LJ, Kwiatkowski DJ, Schuback DE, Breakefield XO, Wexler NS, Gusella JF, Haines JL
A genetic linkage map of human chromosome 9q. Genomics. 1992 Nov; 14(3):715-20.
A genetic linkage map of human chromosome 9q.
Jacoby LB, MacCollin M, Parry DM, Kluwe L, Lynch J, Jones D, Gusella JF
Allelic expression of the NF2 gene in neurofibromatosis 2 and schwannomatosis. Neurogenetics. 1999 Apr; 2(2):101-8.
Allelic expression of the NF2 gene in neurofibromatosis 2 and schwannomatosis.
Allitto BA, McClatchey AI, Barnes G, Altherr M, Wasmuth J, Frischauf AM, MacDonald ME, Gusella J
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.
Assay by polymerase chain reaction (PCR) of multi-allele polymorphisms in the Huntington's disease region of chromosome 4.
Baxter LR, Mazziotta JC, Pahl JJ, Grafton ST, St George-Hyslop P, Haines JL, Gusella JF, Szuba MP, Selin CE, Guze BH
Psychiatric, genetic, and positron emission tomographic evaluation of persons at risk for Huntington's disease. Arch Gen Psychiatry. 1992 Feb; 49(2):148-54.
Psychiatric, genetic, and positron emission tomographic evaluation of persons at risk for Huntington's disease.
Rutter JL, Mitchell TI, Butticè G, Meyers J, Gusella JF, Ozelius LJ, Brinckerhoff CE
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.
A single nucleotide polymorphism in the matrix metalloproteinase-1 promoter creates an Ets binding site and augments transcription.
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
Disruption of a large intergenic noncoding RNA in subjects with neurodevelopmental disabilities. Am J Hum Genet. 2012 Dec 07; 91(6):1128-34.
Disruption of a large intergenic noncoding RNA in subjects with neurodevelopmental disabilities.
RFLPS at the D21S19 locus of human chromosome 21. Nucleic Acids Res. 1985 Oct 11; 13(19):7168.
RFLPS at the D21S19 locus of human chromosome 21.
Huntingtons disease: linkage with G8 on chromosome 4 and its consequences. Prog Clin Biol Res. 1985; 177:53-60.
Huntingtons disease: linkage with G8 on chromosome 4 and its consequences.
Bahl S, Chiang C, Beauchamp RL, Neale BM, Daly MJ, Gusella JF, Talkowski ME, Ramesh V
Lack of association of rare functional variants in TSC1/TSC2 genes with autism spectrum disorder. Mol Autism. 2013 Mar 20; 4(1):5.
Lack of association of rare functional variants in TSC1/TSC2 genes with autism spectrum disorder.
Castells A, Ino Y, Louis DN, Ramesh V, Gusella JF, Rustgi AK
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.
Mapping of a target region of allelic loss to a 0.5-cM interval on chromosome 22q13 in human colorectal cancer.
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
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.
Long glutamine tracts cause nuclear localization of a novel form of huntingtin in medium spiny striatal neurons in HdhQ92 and HdhQ111 knock-in mice.
St George-Hyslop PH, Ohno H, Gusella JF, McKeithan T
The BCL3 locus on chromosome 19 displays an informative microsatellite polymorphism. Nucleic Acids Res. 1992 Feb 25; 20(4):927.
The BCL3 locus on chromosome 19 displays an informative microsatellite polymorphism.
Dinucleotide repeat polymorphism at the D9S117 locus (9q31-34). Nucleic Acids Res. 1992 Feb 25; 20(4):931.
Dinucleotide repeat polymorphism at the D9S117 locus (9q31-34).
Dinucleotide repeat polymorphism at the D9S123 locus (9q31-34). Nucleic Acids Res. 1992 Feb 25; 20(4):934.
Dinucleotide repeat polymorphism at the D9S123 locus (9q31-34).
Kluwe L, Mautner V, Parry DM, Jacoby LB, Baser M, Gusella J, Davis K, Stavrou D, MacCollin M
The parental origin of new mutations in neurofibromatosis 2. Neurogenetics. 2000 Sep; 3(1):17-24.
The parental origin of new mutations in neurofibromatosis 2.
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
Genome-wide scan for Parkinson's disease: the GenePD Study. Neurology. 2001 Sep 25; 57(6):1124-6.
Genome-wide scan for Parkinson's disease: the GenePD Study.
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
The GPR54 gene as a regulator of puberty. N Engl J Med. 2003 Oct 23; 349(17):1614-27.
The GPR54 gene as a regulator of puberty.
Sacchi N, Cheng SV, Tanzi RE, Gusella JF, Drabkin HA, Patterson D, Haines JH, Papas TS
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.
The ETS genes on chromosome 21 are distal to the breakpoint of the acute myelogenous leukemia translocation (8;21).
Yan WL, Lerner TJ, Haines JL, Gusella JF
Sequence analysis and mapping of a novel human mitochondrial ATP synthase subunit 9 cDNA (ATP5G3). Genomics. 1994 Nov 15; 24(2):375-7.
Sequence analysis and mapping of a novel human mitochondrial ATP synthase subunit 9 cDNA (ATP5G3).