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James Francis Gusella, PH.D.

TitleBullard Professor of Neurogenetics in the Department of Genetics
InstitutionMassachusetts General Hospital
DepartmentGenetics
AddressMassachusetts General Hospital
Center for Human Genetic Research
185 Cambridge St
Boston MA 02114
Phone617/726-5724
Fax617/726-5735

 Research 
 research resources
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eagle-i@hms.harvard.edu.

 Bibliographic 
 selected publications
Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Faculty can login to make corrections and additions.
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  1. 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. Candidate glutamatergic and dopaminergic pathway gene variants do not influence Huntington's disease motor onset. Neurogenetics. 2013 Nov; 14(3-4):173-9.
    View in: PubMed
  2. 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. 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.
    View in: PubMed
  3. 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. 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.
    View in: PubMed
  4. 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; 4(1):5.
    View in: PubMed
  5. 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 7; 92(3):375-86.
    View in: PubMed
  6. Nguyen LS, Kim HG, Rosenfeld JA, Shen Y, Gusella JF, Lacassie Y, Layman LC, Shaffer LG, Gécz J. Contribution of copy number variants involving nonsense-mediated mRNA decay pathway genes to neuro-developmental disorders. Hum Mol Genet. 2013 May 1; 22(9):1816-25.
    View in: PubMed
  7. 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. Haploinsufficiency of KDM6A is associated with severe psychomotor retardation, global growth restriction, seizures and cleft palate. Hum Genet. 2013 May; 132(5):537-52.
    View in: PubMed
  8. 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. Detection of copy number variants reveals association of cilia genes with neural tube defects. PLoS One. 2013; 8(1):e54492.
    View in: PubMed
  9. 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. 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 7; 92(2):210-20.
    View in: PubMed
  10. 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. Mosaic copy number variation in schizophrenia. Eur J Hum Genet. 2013 Sep; 21(9):1007-11.
    View in: PubMed
  11. 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 7; 91(6):1128-34.
    View in: PubMed
  12. 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. Clinical diagnosis by whole-genome sequencing of a prenatal sample. N Engl J Med. 2012 Dec 6; 367(23):2226-32.
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  13. 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. Highly penetrant alterations of a critical region including BDNF in human psychopathology and obesity. Arch Gen Psychiatry. 2012 Dec 1; 69(12):1238-46.
    View in: PubMed
  14. Hadzi TC, Hendricks AE, Latourelle JC, Lunetta KL, Cupples LA, Gillis T, Mysore JS, Gusella JF, MacDonald ME, Myers RH, Vonsattel JP. Assessment of cortical and striatal involvement in 523 Huntington disease brains. Neurology. 2012 Oct 16; 79(16):1708-15.
    View in: PubMed
  15. 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. 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.
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  16. 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.
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  17. Aziz NA, Roos RA, Gusella JF, Lee JM, Macdonald ME. 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.
    View in: PubMed
  18. 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. 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.
    View in: PubMed
  19. 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.
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  20. 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. An ancient founder mutation in PROKR2 impairs human reproduction. Hum Mol Genet. 2012 Oct 1; 21(19):4314-24.
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  21. 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. TAA repeat variation in the GRIK2 gene does not influence age at onset in Huntington's disease. Biochem Biophys Res Commun. 2012 Aug 3; 424(3):404-8.
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  22. 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. KCTD13 is a major driver of mirrored neuroanatomical phenotypes of the 16p11.2 copy number variant. Nature. 2012 May 17; 485(7398):363-7.
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  23. 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. An evolutionary recent neuroepithelial cell adhesion function of huntingtin implicates ADAM10-Ncadherin. Nat Neurosci. 2012 May; 15(5):713-21.
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  24. 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. Sequencing chromosomal abnormalities reveals neurodevelopmental loci that confer risk across diagnostic boundaries. Cell. 2012 Apr 27; 149(3):525-37.
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  25. Hooli BV, Mohapatra G, Mattheisen M, Parrado AR, Roehr JT, Shen Y, Gusella JF, Moir R, Saunders AJ, Lange C, Tanzi RE, Bertram L. Role of common and rare APP DNA sequence variants in Alzheimer disease. Neurology. 2012 Apr 17; 78(16):1250-7.
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  26. 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. 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.
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  27. James MF, Stivison E, Beauchamp R, Han S, Li H, Wallace MR, Gusella JF, Stemmer-Rachamimov AO, Ramesh V. Regulation of mTOR complex 2 signaling in neurofibromatosis 2-deficient target cell types. Mol Cancer Res. 2012 May; 10(5):649-59.
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  28. 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. Prevalence of Huntington's disease gene CAG repeat alleles in sporadic amyotrophic lateral sclerosis patients. Amyotroph Lateral Scler. 2012 May; 13(3):265-9.
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  29. 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. Complex reorganization and predominant non-homologous repair following chromosomal breakage in karyotypically balanced germline rearrangements and transgenic integration. Nat Genet. 2012 Apr; 44(4):390-7, S1.
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  30. 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 9; 90(3):434-44.
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  31. 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. CAG repeat expansion in Huntington disease determines age at onset in a fully dominant fashion. Neurology. 2012 Mar 6; 78(10):690-5.
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  32. Wakabayashi-Ito N, Doherty OM, Moriyama H, Breakefield XO, Gusella JF, O'Donnell JM, Ito N. Dtorsin, the Drosophila ortholog of the early-onset dystonia TOR1A (DYT1), plays a novel role in dopamine metabolism. PLoS One. 2011; 6(10):e26183.
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  33. 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 7; 89(4):551-63.
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  34. 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 AT, Waeber G, Wallgren-Pettersson C, Witwicki RM, Zwolinksi S, Andrieux J, Estivill X, Gusella JF, Gustafsson O, Metspalu A, Scherer SW, Stefansson K, Blakemore AI, Beckmann JS, Froguel P. Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus. Nature. 2011 Oct 6; 478(7367):97-102.
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  35. Yu Y, Zhu H, Miller DT, Gusella JF, Platt OS, Wu BL, Shen Y. Age- and gender-dependent obesity in individuals with 16p11.2 deletion. J Genet Genomics. 2011 Sep 20; 38(9):403-9.
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  36. Fossale E, Seong IS, Coser KR, Shioda T, Kohane IS, Wheeler VC, Gusella JF, MacDonald ME, Lee JM. Differential effects of the Huntington's disease CAG mutation in striatum and cerebellum are quantitative not qualitative. Hum Mol Genet. 2011 Nov 1; 20(21):4258-67.
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  37. 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.
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  38. 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. The cell adhesion gene PVRL3 is associated with congenital ocular defects. Hum Genet. 2012 Feb; 131(2):235-50.
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  39. Latourelle JC, Hendricks AE, Pankratz N, Wilk JB, Halter C, Nichols WC, Gusella JF, Destefano AL, Myers RH, Foroud T. Genomewide linkage study of modifiers of LRRK2-related Parkinson's disease. Mov Disord. 2011 Sep; 26(11):2039-44.
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  40. Jacobsen JC, Gregory GC, Woda JM, Thompson MN, Coser KR, Murthy V, Kohane IS, Gusella JF, Seong IS, MacDonald ME, Shioda T, Lee JM. HD CAG-correlated gene expression changes support a simple dominant gain of function. Hum Mol Genet. 2011 Jul 15; 20(14):2846-60.
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  41. Myre MA, Lumsden AL, Thompson MN, Wasco W, MacDonald ME, Gusella JF. Deficiency of huntingtin has pleiotropic effects in the social amoeba Dictyostelium discoideum. PLoS Genet. 2011 Apr; 7(4):e1002052.
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  42. 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 8; 88(4):469-81.
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  43. 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. Expanding the phenotype and genotype of female GnRH deficiency. J Clin Endocrinol Metab. 2011 Mar; 96(3):E566-76.
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  44. 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. 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.
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  45. Biffi A, Plourde A, Shen Y, Onofrio R, Smith EE, Frosch M, Prada CM, Gusella J, Greenberg SM, Rosand J. Screening for familial APP mutations in sporadic cerebral amyloid angiopathy. PLoS One. 2010; 5(11):e13949.
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  46. Gohil VM, Offner N, Walker JA, Sheth SA, Fossale E, Gusella JF, MacDonald ME, Neri C, Mootha VK. Meclizine is neuroprotective in models of Huntington's disease. Hum Mol Genet. 2011 Jan 15; 20(2):294-300.
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  47. 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. 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 8; 87(4):465-79.
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  48. 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. Oligogenic basis of isolated gonadotropin-releasing hormone deficiency. Proc Natl Acad Sci U S A. 2010 Aug 24; 107(34):15140-4.
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  49. 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. Deletions of NRXN1 (neurexin-1) predispose to a wide spectrum of developmental disorders. Am J Med Genet B Neuropsychiatr Genet. 2010 Jun 5; 153B(4):937-47.
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  50. 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. Prevalence of incompletely penetrant Huntington's disease alleles among individuals with major depressive disorder. Am J Psychiatry. 2010 May; 167(5):574-9.
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  51. 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. A novel approach to investigate tissue-specific trinucleotide repeat instability. BMC Syst Biol. 2010; 4:29.
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  52. 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. Clinical genetic testing for patients with autism spectrum disorders. Pediatrics. 2010 Apr; 125(4):e727-35.
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  53. 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.
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  54. Gritli S, Ben Salah M, Shili A, Robson CD, Ferjaoui M, Hendaoui L, Belhani A, Jilani SB, Gusella JF, Macrae CA. Association of the long QT syndrome With goiter and deafness. Am J Cardiol. 2010 Mar 1; 105(5):681-6.
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  55. 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. An ovine transgenic Huntington's disease model. Hum Mol Genet. 2010 May 15; 19(10):1873-82.
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  56. Shen Y, Wu BL, Gusella JF. Large-scale medical resequencing for X-linked mental retardation. Clin Chem. 2010 Mar; 56(3):339-41.
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  57. 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. Huntingtin facilitates polycomb repressive complex 2. Hum Mol Genet. 2010 Feb 15; 19(4):573-83.
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  58. Ernst C, Morton CC, Gusella JF. 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.
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  59. Crowley WF, Gusella JF. Changing models of biomedical research. Sci Transl Med. 2009 Oct 7; 1(1):1cm1.
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  60. 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; 10:98.
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  61. 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. BDNF, relative preference, and reward circuitry responses to emotional communication. Am J Med Genet B Neuropsychiatr Genet. 2009 Sep 5; 150B(6):762-81.
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  62. 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. 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.
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  63. Gusella JF, MacDonald ME. Huntington's disease: the case for genetic modifiers. Genome Med. 2009; 1(8):80.
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  64. Shen Y, Nunes F, Stemmer-Rachamimov A, James M, Mohapatra G, Plotkin S, Betensky RA, Engler DA, Roy J, Ramesh V, Gusella JF. Genomic profiling distinguishes familial multiple and sporadic multiple meningiomas. BMC Med Genomics. 2009; 2:42.
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  65. Hendricks AE, Latourelle JC, Lunetta KL, Cupples LA, Wheeler V, MacDonald ME, Gusella JF, Myers RH. 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.
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  66. 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.
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  67. LaFemina J, Roberts PA, Hung YP, Gusella JF, Sahani D, Fernández-del Castillo C, Warshaw AL, Thayer SP. Identification of a novel kindred with familial pancreatitis and pancreatic cancer. Pancreatology. 2009; 9(3):273-9.
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  68. McQueen M, MacCollin M, Gusella J, Plotkin SR. Patient and physician attitudes regarding clinical trials in neurofibromatosis 1. J Neurosci Nurs. 2008 Dec; 40(6):341-5.
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  69. Pankratz N, Wilk JB, Latourelle JC, DeStefano AL, Halter C, Pugh EW, Doheny KF, Gusella JF, Nichols WC, Foroud T, Myers RH. Genomewide association study for susceptibility genes contributing to familial Parkinson disease. Hum Genet. 2009 Jan; 124(6):593-605.
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  70. 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. The Gly2019Ser mutation in LRRK2 is not fully penetrant in familial Parkinson's disease: the GenePD study. BMC Med. 2008; 6:32.
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  71. 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. 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.
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  72. 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. 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.
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  73. 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. 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.
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  74. 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. 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.
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  75. 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. Replication of association between ELAVL4 and Parkinson disease: the GenePD study. Hum Genet. 2008 Aug; 124(1):95-9.
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  76. 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 1; 71(1):28-34.
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  77. 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. X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment. Nat Genet. 2008 Jun; 40(6):776-81.
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  78. 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. Characterization of apparently balanced chromosomal rearrangements from the developmental genome anatomy project. Am J Hum Genet. 2008 Mar; 82(3):712-22.
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  79. 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. Association between microdeletion and microduplication at 16p11.2 and autism. N Engl J Med. 2008 Feb 14; 358(7):667-75.
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  80. 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. Disruption of neurexin 1 associated with autism spectrum disorder. Am J Hum Genet. 2008 Jan; 82(1):199-207.
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  81. Gusella JF, MacDonald ME. Expanding the notion of disease in Huntington's disease. Biol Psychiatry. 2007 Dec 15; 62(12):1340.
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  82. Abo-Dalo B, Kim HG, Roes M, Stefanova M, Higgins A, Shen Y, Mundlos S, Quade BJ, Gusella JF, Kutsche K. 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.
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  83. 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. Development of a focused oligonucleotide-array comparative genomic hybridization chip for clinical diagnosis of genomic imbalance. Clin Chem. 2007 Dec; 53(12):2051-9.
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  84. James MF, Lelke JM, Maccollin M, Plotkin SR, Stemmer-Rachamimov AO, Ramesh V, Gusella JF. 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.
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  85. Beyer KS, Beauchamp RL, Lee MF, Gusella JF, Näär AM, Ramesh V. Mediator subunit MED28 (Magicin) is a repressor of smooth muscle cell differentiation. J Biol Chem. 2007 Nov 2; 282(44):32152-7.
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  86. Quintero-Rivera F, Leach NT, de la Chapelle A, Gusella JF, Morton CC, Harris DJ. Is the disruption of an N-myristoyltransferase (NMT2) associated with hypoplastic testes? Am J Med Genet A. 2007 Aug 1; 143A(15):1796-8.
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  87. Wheeler VC, Persichetti F, McNeil SM, Mysore JS, Mysore SS, MacDonald ME, Myers RH, Gusella JF, Wexler NS. Factors associated with HD CAG repeat instability in Huntington disease. J Med Genet. 2007 Nov; 44(11):695-701.
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  88. Hims MM, Shetty RS, Pickel J, Mull J, Leyne M, Liu L, Gusella JF, Slaugenhaupt SA. A humanized IKBKAP transgenic mouse models a tissue-specific human splicing defect. Genomics. 2007 Sep; 90(3):389-96.
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  89. 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.
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  90. 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.
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  91. Quintero-Rivera F, Chan A, Donovan DJ, Gusella JF, Ligon AH. Disruption of a synaptotagmin (SYT14) associated with neurodevelopmental abnormalities. Am J Med Genet A. 2007 Mar 15; 143(6):558-63.
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  92. 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. 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.
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  93. 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. Disruption of diacylglycerol kinase delta (DGKD) associated with seizures in humans and mice. Am J Hum Genet. 2007 Apr; 80(4):792-9.
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  94. 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. Candidate loci for Zimmermann-Laband syndrome at 3p14.3. Am J Med Genet A. 2007 Jan 15; 143(2):107-11.
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  95. Hims MM, Ibrahim EC, Leyne M, Mull J, Liu L, Lazaro C, Shetty RS, Gill S, Gusella JF, Reed R, Slaugenhaupt SA. 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.
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  96. 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.
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  97. Andresen JM, Gayán J, Djoussé L, Roberts S, Brocklebank D, Cherny SS. 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.
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  98. Gusella JF, Macdonald M. Genetic criteria for Huntington's disease pathogenesis. Brain Res Bull. 2007 Apr 30; 72(2-3):78-82.
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  99. Zeng W, Gillis T, Hakky M, Djoussé L, Myers RH, MacDonald ME, Gusella JF. Genetic analysis of the GRIK2 modifier effect in Huntington's disease. BMC Neurosci. 2006; 7:62.
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  100. Kishikawa S, Li JL, Gillis T, Hakky MM, Warby S, Hayden M, MacDonald ME, Myers RH, Gusella JF. Brain-derived neurotrophic factor does not influence age at neurologic onset of Huntington's disease. Neurobiol Dis. 2006 Nov; 24(2):280-5.
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  101. 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; 7:71.
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  102. 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.
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  103. Lee MF, Beauchamp RL, Beyer KS, Gusella JF, Ramesh V. Magicin associates with the Src-family kinases and is phosphorylated upon CD3 stimulation. Biochem Biophys Res Commun. 2006 Sep 29; 348(3):826-31.
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  104. Gusella JF, MacDonald ME. Huntington's disease: seeing the pathogenic process through a genetic lens. Trends Biochem Sci. 2006 Sep; 31(9):533-40.
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  105. 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. Influence of heterozygosity for parkin mutation on onset age in familial Parkinson disease: the GenePD study. Arch Neurol. 2006 Jun; 63(6):826-32.
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  106. 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. BDNF genetic variants are associated with onset age of familial Parkinson disease: GenePD Study. Neurology. 2005 Dec 13; 65(11):1823-5.
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  107. Nunes F, Shen Y, Niida Y, Beauchamp R, Stemmer-Rachamimov AO, Ramesh V, Gusella J, MacCollin M. Inactivation patterns of NF2 and DAL-1/4.1B (EPB41L3) in sporadic meningioma. Cancer Genet Cytogenet. 2005 Oct 15; 162(2):135-9.
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  108. 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. 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.
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  109. Seong IS, Ivanova E, Lee JM, Choo YS, Fossale E, Anderson M, Gusella JF, Laramie JM, Myers RH, Lesort M, MacDonald ME. HD CAG repeat implicates a dominant property of huntingtin in mitochondrial energy metabolism. Hum Mol Genet. 2005 Oct 1; 14(19):2871-80.
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  110. 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.
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  111. Zeng WQ, Al-Yamani E, Acierno JS, Slaugenhaupt S, Gillis T, MacDonald ME, Ozand PT, Gusella JF. 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.
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  112. 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 1; 280(13):12517-22.
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  113. Wang J, Gines S, MacDonald ME, Gusella JF. Reversal of a full-length mutant huntingtin neuronal cell phenotype by chemical inhibitors of polyglutamine-mediated aggregation. BMC Neurosci. 2005; 6:1.
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  114. Wiederhold T, Lee MF, James M, Neujahr R, Smith N, Murthy A, Hartwig J, Gusella JF, Ramesh V. Magicin, a novel cytoskeletal protein associates with the NF2 tumor suppressor merlin and Grb2. Oncogene. 2004 Nov 18; 23(54):8815-25.
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  115. Matthysse S, Holzman PS, Gusella JF, Levy DL, Harte CB, Jørgensen A, Møller L, Parnas J. Linkage of eye movement dysfunction to chromosome 6p in schizophrenia: additional evidence. Am J Med Genet B Neuropsychiatr Genet. 2004 Jul 1; 128B(1):30-6.
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  116. 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. Evidence for a modifier of onset age in Huntington disease linked to the HD gene in 4p16. Neurogenetics. 2004 Jun; 5(2):109-14.
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  117. 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. Venezuelan kindreds reveal that genetic and environmental factors modulate Huntington's disease age of onset. Proc Natl Acad Sci U S A. 2004 Mar 9; 101(10):3498-503.
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  118. Slaugenhaupt SA, Mull J, Leyne M, Cuajungco MP, Gill SP, Hims MM, Quintero F, Axelrod FB, Gusella JF. Rescue of a human mRNA splicing defect by the plant cytokinin kinetin. Hum Mol Genet. 2004 Feb 15; 13(4):429-36.
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  119. Parekh-Olmedo H, Wang J, Gusella JF, Kmiec EB. Modified single-stranded oligonucleotides inhibit aggregate formation and toxicity induced by expanded polyglutamine. J Mol Neurosci. 2004; 24(2):257-67.
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  120. 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 9; 61(11):1557-61.
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  121. 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.
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  122. 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. 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.
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  123. 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. 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.
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  124. Nenguke T, Aladjem MI, Gusella JF, Wexler NS, Arnheim N. Candidate DNA replication initiation regions at human trinucleotide repeat disease loci. Hum Mol Genet. 2003 May 1; 12(9):1021-8.
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  125. Leyne M, Mull J, Gill SP, Cuajungco MP, Oddoux C, Blumenfeld A, Maayan C, Gusella JF, Axelrod FB, Slaugenhaupt SA. Identification of the first non-Jewish mutation in familial Dysautonomia. Am J Med Genet A. 2003 May 1; 118A(4):305-8.
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  126. 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 2; 300(5620):767-72.
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  127. Gines S, Seong IS, Fossale E, Ivanova E, Trettel F, Gusella JF, Wheeler VC, Persichetti F, MacDonald ME. Specific progressive cAMP reduction implicates energy deficit in presymptomatic Huntington's disease knock-in mice. Hum Mol Genet. 2003 Mar 1; 12(5):497-508.
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  128. Cuajungco MP, Leyne M, Mull J, Gill SP, Lu W, Zagzag D, Axelrod FB, Maayan C, Gusella JF, Slaugenhaupt SA. 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.
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  129. MacDonald ME, Gines S, Gusella JF, Wheeler VC. Huntington's disease. Neuromolecular Med. 2003; 4(1-2):7-20.
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  130. Takano H, Gusella JF. 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.
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  131. Fossale E, Wheeler VC, Vrbanac V, Lebel LA, Teed A, Mysore JS, Gusella JF, MacDonald ME, Persichetti F. Identification of a presymptomatic molecular phenotype in Hdh CAG knock-in mice. Hum Mol Genet. 2002 Sep 15; 11(19):2233-41.
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  132. Slaugenhaupt SA, Gusella JF. Familial dysautonomia. Curr Opin Genet Dev. 2002 Jun; 12(3):307-11.
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  133. 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. 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.
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  134. Wheeler VC, Gutekunst CA, Vrbanac V, Lebel LA, Schilling G, Hersch S, Friedlander RM, Gusella JF, Vonsattel JP, Borchelt DR, MacDonald ME. 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.
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  135. Gusella J, MacDonald M. No post-genetics era in human disease research. Nat Rev Genet. 2002 Jan; 3(1):72-9.
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  136. 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.
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  137. 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.
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  138. 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. Tissue-specific expression of a splicing mutation in the IKBKAP gene causes familial dysautonomia. Am J Hum Genet. 2001 Mar; 68(3):598-605.
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  139. Gómez-Tortosa E, MacDonald ME, Friend JC, Taylor SA, Weiler LJ, Cupples LA, Srinidhi J, Gusella JF, Bird ED, Vonsattel JP, Myers RH. Quantitative neuropathological changes in presymptomatic Huntington's disease. Ann Neurol. 2001 Jan; 49(1):29-34.
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  140. Gusella JF, MacDonald ME. Molecular genetics: unmasking polyglutamine triggers in neurodegenerative disease. Nat Rev Neurosci. 2000 Nov; 1(2):109-15.
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  141. Passani LA, Bedford MT, Faber PW, McGinnis KM, Sharp AH, Gusella JF, Vonsattel JP, MacDonald ME. 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 1; 9(14):2175-82.
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  142. 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.
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  143. Castells A, Gusella JF, Ramesh V, Rustgi AK. A region of deletion on chromosome 22q13 is common to human breast and colorectal cancers. Cancer Res. 2000 Jun 1; 60(11):2836-9.
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  144. 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. Advances in neurofibromatosis 2 (NF2): a workshop report. J Neurogenet. 2000 Jun; 14(2):63-106.
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  145. 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 1; 9(4):503-13.
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  146. 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. 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.
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  147. 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.
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  148. MacDonald ME, Vonsattel JP, Shrinidhi J, Couropmitree NN, Cupples LA, Bird ED, Gusella JF, Myers RH. Evidence for the GluR6 gene associated with younger onset age of Huntington's disease. Neurology. 1999 Oct 12; 53(6):1330-2.
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  149. 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.
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  150. Persichetti F, Trettel F, Huang CC, Fraefel C, Timmers HT, Gusella JF, MacDonald ME. Mutant huntingtin forms in vivo complexes with distinct context-dependent conformations of the polyglutamine segment. Neurobiol Dis. 1999 Oct; 6(5):364-75.
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  151. Slaugenhaupt SA, Acierno JS, Helbling LA, Bove C, Goldin E, Bach G, Schiffmann R, Gusella JF. 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.
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  152. Zhu JJ, Maruyama T, Jacoby LB, Herman JG, Gusella JF, Black PM, Wu JK. Clonal analysis of a case of multiple meningiomas using multiple molecular genetic approaches: pathology case report. Neurosurgery. 1999 Aug; 45(2):409-16.
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  153. Karpuj MV, Garren H, Slunt H, Price DL, Gusella J, Becher MW, Steinman L. 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.
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  154. 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. 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.
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  155. 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. 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.
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  156. 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.
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  157. Gusella JF, Ramesh V, MacCollin M, Jacoby LB. Merlin: the neurofibromatosis 2 tumor suppressor. Biochim Biophys Acta. 1999 Mar 25; 1423(2):M29-36.
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  158. 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.
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  159. Wheeler VC, Auerbach W, White JK, Srinidhi J, Auerbach A, Ryan A, Duyao MP, Vrbanac V, Weaver M, Gusella JF, Joyner AL, MacDonald ME. Length-dependent gametic CAG repeat instability in the Huntington's disease knock-in mouse. Hum Mol Genet. 1999 Jan; 8(1):115-22.
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  160. 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 1; 58(23):5321-5.
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  161. Stemmer-Rachamimov AO, Ino Y, Lim ZY, Jacoby LB, MacCollin M, Gusella JF, Ramesh V, Louis DN. 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.
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  162. Stemmer-Rachamimov AO, Nielsen GP, Rosenberg AE, Louis DN, Jones D, Ramesh V, Gusella JF, Jacoby LB. The NF2 gene and merlin protein in human osteosarcomas. Neurogenetics. 1998 Dec; 2(1):73-4.
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  163. Gusella JF, Podolsky DK. Inflammatory bowel disease: is it in the genes? Gastroenterology. 1998 Nov; 115(5):1286-9.
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  164. Faber PW, Barnes GT, Srinidhi J, Chen J, Gusella JF, MacDonald ME. Huntingtin interacts with a family of WW domain proteins. Hum Mol Genet. 1998 Sep; 7(9):1463-74.
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  165. 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, et al. 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.
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  166. Huang CC, Faber PW, Persichetti F, Mittal V, Vonsattel JP, MacDonald ME, Gusella JF. Amyloid formation by mutant huntingtin: threshold, progressivity and recruitment of normal polyglutamine proteins. Somat Cell Mol Genet. 1998 Jul; 24(4):217-33.
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  167. Gusella JF, MacDonald ME. Huntingtin: a single bait hooks many species. Curr Opin Neurobiol. 1998 Jun; 8(3):425-30.
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  168. McClatchey AI, Saotome I, Mercer K, Crowley D, Gusella JF, Bronson RT, Jacks T. 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.
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  169. Dunham PJ, Hurshman A, Litwin E, Gusella J, Ellsworth C, Dodd PW. Computer-mediated social support: single young mothers as a model system. Am J Community Psychol. 1998 Apr; 26(2):281-306.
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  170. Cowley GS, Murthy AE, Parry DM, Schneider G, Korf B, Upadhyaya M, Harper P, MacCollin M, Bernards A, Gusella JF. 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.
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  171. Green T, Heinemann SF, Gusella JF. Molecular neurobiology and genetics: investigation of neural function and dysfunction. Neuron. 1998 Mar; 20(3):427-44.
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  172. Murthy A, Gonzalez-Agosti C, Cordero E, Pinney D, Candia C, Solomon F, Gusella J, Ramesh V. 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.
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  173. 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. 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.
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  174. Chadwick BP, Helbling LA, Angrist M, Chakravarti A, Gusella JF, Slaugenhaupt SA. 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.
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  175. White JK, Auerbach W, Duyao MP, Vonsattel JP, Gusella JF, Joyner AL, MacDonald ME. Huntingtin is required for neurogenesis and is not impaired by the Huntington's disease CAG expansion. Nat Genet. 1997 Dec; 17(4):404-10.
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  176. Stemmer-Rachamimov AO, Xu L, Gonzalez-Agosti C, Burwick JA, Pinney D, Beauchamp R, Jacoby LB, Gusella JF, Ramesh V, Louis DN. Universal absence of merlin, but not other ERM family members, in schwannomas. Am J Pathol. 1997 Dec; 151(6):1649-54.
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  177. Jacoby LB, Jones D, Davis K, Kronn D, Short MP, Gusella J, MacCollin M. Molecular analysis of the NF2 tumor-suppressor gene in schwannomatosis. Am J Hum Genet. 1997 Dec; 61(6):1293-302.
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  178. 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. 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.
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  179. 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. The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein. Nat Genet. 1997 Sep; 17(1):40-8.
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  180. McClatchey AI, Saotome I, Ramesh V, Gusella JF, Jacks T. The Nf2 tumor suppressor gene product is essential for extraembryonic development immediately prior to gastrulation. Genes Dev. 1997 May 15; 11(10):1253-65.
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  181. The I, Hannigan GE, Cowley GS, Reginald S, Zhong Y, Gusella JF, Hariharan IK, Bernards A. Rescue of a Drosophila NF1 mutant phenotype by protein kinase A. Science. 1997 May 2; 276(5313):791-4.
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  182. Penney JB, Vonsattel JP, MacDonald ME, Gusella JF, Myers RH. CAG repeat number governs the development rate of pathology in Huntington's disease. Ann Neurol. 1997 May; 41(5):689-92.
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  183. McNeil SM, Novelletto A, Srinidhi J, Barnes G, Kornbluth I, Altherr MR, Wasmuth JJ, Gusella JF, MacDonald ME, Myers RH. Reduced penetrance of the Huntington's disease mutation. Hum Mol Genet. 1997 May; 6(5):775-9.
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  184. 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. 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.
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  185. Ferrante RJ, Gutekunst CA, Persichetti F, McNeil SM, Kowall NW, Gusella JF, MacDonald ME, Beal MF, Hersch SM. Heterogeneous topographic and cellular distribution of huntingtin expression in the normal human neostriatum. J Neurosci. 1997 May 1; 17(9):3052-63.
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  186. Kosinski CM, Cha JH, Young AB, Persichetti F, MacDonald M, Gusella JF, Penney JB, Standaert DG. Huntingtin immunoreactivity in the rat neostriatum: differential accumulation in projection and interneurons. Exp Neurol. 1997 Apr; 144(2):239-47.
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  187. Gusella JF, Persichetti F, MacDonald ME. The genetic defect causing Huntington's disease: repeated in other contexts? Mol Med. 1997 Apr; 3(4):238-46.
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  188. Menon AG, Rutter JL, von Sattel JP, Synder H, Murdoch C, Blumenfeld A, Martuza RL, von Deimling A, Gusella JF, Houseal TW. Frequent loss of chromosome 14 in atypical and malignant meningioma: identification of a putative 'tumor progression' locus. Oncogene. 1997 Feb 6; 14(5):611-6.
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  189. 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. No association between alpha 1-antichymotrypsin and familial Alzheimer's disease. Ann N Y Acad Sci. 1996 Dec 16; 802:35-41.
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  190. Grosson CL, Cannon SC, Corey DP, Gusella JF. 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.
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  191. De Gasperi R, Gama Sosa MA, Sartorato EL, Battistini S, MacFarlane H, Gusella JF, Krivit W, Kolodny EH. Molecular heterogeneity of late-onset forms of globoid-cell leukodystrophy. Am J Hum Genet. 1996 Dec; 59(6):1233-42.
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  192. MacDonald ME, Gusella JF. Huntington's disease: translating a CAG repeat into a pathogenic mechanism. Curr Opin Neurobiol. 1996 Oct; 6(5):638-43.
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  193. Gonzalez-Agosti C, Xu L, Pinney D, Beauchamp R, Hobbs W, Gusella J, Ramesh V. The merlin tumor suppressor localizes preferentially in membrane ruffles. Oncogene. 1996 Sep 19; 13(6):1239-47.
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  194. Jacoby LB, MacCollin M, Barone R, Ramesh V, Gusella JF. Frequency and distribution of NF2 mutations in schwannomas. Genes Chromosomes Cancer. 1996 Sep; 17(1):45-55.
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  195. Murthy AE, Bernards A, Church D, Wasmuth J, Gusella JF. Identification and characterization of two novel tetratricopeptide repeat-containing genes. DNA Cell Biol. 1996 Sep; 15(9):727-35.
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  196. Parry DM, MacCollin MM, Kaiser-Kupfer MI, Pulaski K, Nicholson HS, Bolesta M, Eldridge R, Gusella JF. 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.
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  197. MacCollin M, Braverman N, Viskochil D, Ruttledge M, Davis K, Ojemann R, Gusella J, Parry DM. A point mutation associated with a severe phenotype of neurofibromatosis 2. Ann Neurol. 1996 Sep; 40(3):440-5.
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  198. 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, et al. 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.
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  199. 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. No genetic effect of alpha1-antichymotrypsin in Alzheimer disease. Genomics. 1996 Apr 1; 33(1):53-6.
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  200. Gusella JF, Ramesh V, MacCollin M, Jacoby LB. Neurofibromatosis 2: loss of merlin's protective spell. Curr Opin Genet Dev. 1996 Feb; 6(1):87-92.
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  201. 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.
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  202. Gusella JF, McNeil S, Persichetti F, Srinidhi J, Novelletto A, Bird E, Faber P, Vonsattel JP, Myers RH, MacDonald ME. Huntington's disease. Cold Spring Harb Symp Quant Biol. 1996; 61:615-26.
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  203. MacDonald ME, Duyao M, Calzonetti T, Auerbach A, Ryan A, Barnes G, White JK, Auerbach W, Vonsattel JP, Gusella JF, Joyner AL. Targeted inactivation of the mouse Huntington's disease gene homolog Hdh. Cold Spring Harb Symp Quant Biol. 1996; 61:627-38.
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  204. Gusella JF, MacDonald ME. Trinucleotide instability: a repeating theme in human inherited disorders. Annu Rev Med. 1996; 47:201-9.
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  205. Persichetti F, Carlee L, Faber PW, McNeil SM, Ambrose CM, Srinidhi J, Anderson M, Barnes GT, Gusella JF, MacDonald ME. Differential expression of normal and mutant Huntington's disease gene alleles. Neurobiol Dis. 1996; 3(3):183-90.
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  206. 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.
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  207. Grosson CL, Esteban J, McKenna-Yasek D, Gusella JF, Brown RH. Hypokalemic periodic paralysis mutations: confirmation of mutation and analysis of founder effect. Neuromuscul Disord. 1996 Jan; 6(1):27-31.
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  208. 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.
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  209. Joseph JT, Lisle DK, Jacoby LB, Paulus W, Barone R, Cohen ML, Roggendorf WH, Bruner JM, Gusella JF, Louis DN. NF2 gene analysis distinguishes hemangiopericytoma from meningioma. Am J Pathol. 1995 Nov; 147(5):1450-5.
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  210. 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.
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  211. Louis DN, Gusella JF. A tiger behind many doors: multiple genetic pathways to malignant glioma. Trends Genet. 1995 Oct; 11(10):412-5.
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  212. Gusella JF, MacDonald ME. Huntington's disease: CAG genetics expands neurobiology. Curr Opin Neurobiol. 1995 Oct; 5(5):656-62.
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  213. Trofatter JA, Long KR, Murrell JR, Stotler CJ, Gusella JF, Buckler AJ. An expression-independent catalog of genes from human chromosome 22. Genome Res. 1995 Oct; 5(3):214-24.
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  214. Rustgi AK, Xu L, Pinney D, Sterner C, Beauchamp R, Schmidt S, Gusella JF, Ramesh V. Neurofibromatosis 2 gene in human colorectal cancer. Cancer Genet Cytogenet. 1995 Oct 1; 84(1):24-6.
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  215. Yong WH, Ueki K, Chou D, Reeves SA, von Deimling A, Gusella JF, Mohrenweiser HW, Buckler AJ, Louis DN. 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.
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  216. Reppert SM, Godson C, Mahle CD, Weaver DR, Slaugenhaupt SA, Gusella JF. 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.
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  217. Leeflang EP, Zhang L, Tavaré S, Hubert R, Srinidhi J, MacDonald ME, Myers RH, de Young M, Wexler NS, Gusella JF, et al. 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.
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  218. Oddoux C, Reich E, Axelrod F, Blumenfeld A, Maayan C, Slaugenhaupt S, Gusella J, Ostrer H. Prenatal diagnostic testing for familial dysautonomia using linked genetic markers. Prenat Diagn. 1995 Sep; 15(9):817-26.
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  219. Yong WH, Chou D, Ueki K, Harsh GR, von Deimling A, Gusella JF, Mohrenweiser HW, Louis DN. 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.
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  220. Slavc I, MacCollin MM, Dunn M, Jones S, Sutton L, Gusella JF, Biegel JA. 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.
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  221. 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.
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  222. Duyao MP, Auerbach AB, Ryan A, Persichetti F, Barnes GT, McNeil SM, Ge P, Vonsattel JP, Gusella JF, Joyner AL, et al. Inactivation of the mouse Huntington's disease gene homolog Hdh. Science. 1995 Jul 21; 269(5222):407-10.
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  223. Marchuk DA, Gallione CJ, Morrison LA, Clericuzio CL, Hart BL, Kosofsky BE, Louis DN, Gusella JF, Davis LE, Prenger VL. A locus for cerebral cavernous malformations maps to chromosome 7q in two families. Genomics. 1995 Jul 20; 28(2):311-4.
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  224. 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.
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  225. Wellenreuther R, Kraus JA, Lenartz D, Menon AG, Schramm J, Louis DN, Ramesh V, Gusella JF, Wiestler OD, von Deimling A. Analysis of the neurofibromatosis 2 gene reveals molecular variants of meningioma. Am J Pathol. 1995 Apr; 146(4):827-32.
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  226. Louis DN, Ramesh V, Gusella JF. Neuropathology and molecular genetics of neurofibromatosis 2 and related tumors. Brain Pathol. 1995 Apr; 5(2):163-72.
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  227. Ishioka C, Ballester R, Engelstein M, Vidal M, Kassel J, The I, Bernards A, Gusella JF, Friend SH. A functional assay for heterozygous mutations in the GTPase activating protein related domain of the neurofibromatosis type 1 gene. Oncogene. 1995 Mar 2; 10(5):841-7.
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  228. Gusella JF, MacDonald ME. Huntington's disease. Semin Cell Biol. 1995 Feb; 6(1):21-8.
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  229. Locke PA, Conneally PM, Tanzi RE, Gusella JF, Haines JL. 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.
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  230. Blumenfeld A, Lucente DE, Trofatter JA, Lerner T, Slaugenhaupt SA, Liebert CB, Monahan M, Haines JL, Gusella JF, Breakefield XO, Parysek LM. Peripherin gene is linked to keratin 18 gene on human chromosome 12. Somat Cell Mol Genet. 1995 Jan; 21(1):83-8.
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  231. Vonsattel JP, Aizawa H, Ge P, DiFiglia M, McKee AC, MacDonald M, Gusella JF, Landwehrmeyer GB, Bird ED, Richardson EP, et al. An improved approach to prepare human brains for research. J Neuropathol Exp Neurol. 1995 Jan; 54(1):42-56.
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  232. Kozman HM, Keith TP, Donis-Keller H, White RL, Weissenbach J, Dean M, Vergnaud G, Kidd K, Gusella J, Royle NJ, et al. The CEPH consortium linkage map of human chromosome 16. Genomics. 1995 Jan 1; 25(1):44-58.
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  233. von Deimling A, Kraus JA, Stangl AP, Wellenreuther R, Lenartz D, Schramm J, Louis DN, Ramesh V, Gusella JF, Wiestler OD. Evidence for subarachnoid spread in the development of multiple meningiomas. Brain Pathol. 1995 Jan; 5(1):11-4.
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  234. Giordani B, Berent S, Boivin MJ, Penney JB, Lehtinen S, Markel DS, Hollingsworth Z, Butterbaugh G, Hichwa RD, Gusella JF, et al. Longitudinal neuropsychological and genetic linkage analysis of persons at risk for Huntington's disease. Arch Neurol. 1995 Jan; 52(1):59-64.
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  235. Persichetti F, Srinidhi J, Kanaley L, Ge P, Myers RH, D'Arrigo K, Barnes GT, MacDonald ME, Vonsattel JP, Gusella JF, et al. Huntington's disease CAG trinucleotide repeats in pathologically confirmed post-mortem brains. Neurobiol Dis. 1994 Dec; 1(3):159-66.
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  236. Bernards A, Gusella JF. The importance of genetic mosaicism in human disease. N Engl J Med. 1994 Nov 24; 331(21):1447-9.
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  237. 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.
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  238. Kieburtz K, MacDonald M, Shih C, Feigin A, Steinberg K, Bordwell K, Zimmerman C, Srinidhi J, Sotack J, Gusella J, et al. Trinucleotide repeat length and progression of illness in Huntington's disease. J Med Genet. 1994 Nov; 31(11):872-4.
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  239. Ueki K, Rubio MP, Ramesh V, Correa KM, Rutter JL, von Deimling A, Buckler AJ, Gusella JF, Louis DN. 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.
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  240. Tikoo A, Varga M, Ramesh V, Gusella J, Maruta H. An anti-Ras function of neurofibromatosis type 2 gene product (NF2/Merlin). J Biol Chem. 1994 Sep 23; 269(38):23387-90.
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  241. Bush AI, Pettingell WH, Multhaup G, d Paradis M, Vonsattel JP, Gusella JF, Beyreuther K, Masters CL, Tanzi RE. Rapid induction of Alzheimer A beta amyloid formation by zinc. Science. 1994 Sep 2; 265(5177):1464-7.
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  242. Gasser T, Wszolek ZK, Trofatter J, Ozelius L, Uitti RJ, Lee CS, Gusella J, Pfeiffer RF, Calne DB, Breakefield XO. Genetic linkage studies in autosomal dominant parkinsonism: evaluation of seven candidate genes. Ann Neurol. 1994 Sep; 36(3):387-96.
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  243. Rubio MP, Correa KM, Ueki K, Mohrenweiser HW, Gusella JF, von Deimling A, Louis DN. The putative glioma tumor suppressor gene on chromosome 19q maps between APOC2 and HRC. Cancer Res. 1994 Sep 1; 54(17):4760-3.
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  244. Hubert R, MacDonald M, Gusella J, Arnheim N. High resolution localization of recombination hot spots using sperm typing. Nat Genet. 1994 Jul; 7(3):420-4.
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  245. Grosson CL, MacDonald ME, Duyao MP, Ambrose CM, Roffler-Tarlov S, Gusella JF. Synteny conservation of the Huntington's disease gene and surrounding loci on mouse Chromosome 5. Mamm Genome. 1994 Jul; 5(7):424-8.
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  246. Gusella JF, MacDonald ME. Huntington's disease and repeating trinucleotides. N Engl J Med. 1994 May 19; 330(20):1450-1.
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  247. Rosen DR, Sapp P, O'Regan J, McKenna-Yasek D, Schlumpf KS, Haines JL, Gusella JF, Horvitz HR, Brown RH. 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.
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  248. MacCollin M, Peterfreund R, MacDonald M, Fink JS, Gusella J. Mapping of a human A2a adenosine receptor (ADORA2) to chromosome 22. Genomics. 1994 Mar 15; 20(2):332-3.
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  249. 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.
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  250. Barnes GT, Duyao MP, Ambrose CM, McNeil S, Persichetti F, Srinidhi J, Gusella JF, MacDonald ME. Mouse Huntington's disease gene homolog (Hdh). Somat Cell Mol Genet. 1994 Mar; 20(2):87-97.
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  251. Haase VH, Trofatter JA, MacCollin M, Tarttelin E, Gusella JF, Ramesh V. The murine NF2 homologue encodes a highly conserved merlin protein with alternative forms. Hum Mol Genet. 1994 Mar; 3(3):407-11.
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  252. 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.
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  253. Bianchi AB, Hara T, Ramesh V, Gao J, Klein-Szanto AJ, Morin F, Menon AG, Trofatter JA, Gusella JF, Seizinger BR, et al. Mutations in transcript isoforms of the neurofibromatosis 2 gene in multiple human tumour types. Nat Genet. 1994 Feb; 6(2):185-92.
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  254. Attwood J, Chiano M, Collins A, Donis-Keller H, Dracopoli N, Fountain J, Falk C, Goudie D, Gusella J, Haines J, et al. CEPH consortium Map of chromosome 9. Genomics. 1994 Jan 15; 19(2):203-14.
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  255. Hummerich H, Baxendale S, Mott R, Kirby SF, MacDonald ME, Gusella J, Lehrach H, Bates GP. 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.
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  256. Novelletto A, Persichetti F, Sabbadini G, Mandich P, Bellone E, Ajmar F, Pergola M, Del Senno L, MacDonald ME, Gusella JF, et al. Analysis of the trinucleotide repeat expansion in Italian families affected with Huntington disease. Hum Mol Genet. 1994 Jan; 3(1):93-8.
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  257. Lerner TJ, Boustany RM, MacCormack K, Gleitsman J, Schlumpf K, Breakefield XO, Gusella JF, Haines JL. 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.
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  258. Rubio MP, Correa KM, Ramesh V, MacCollin MM, Jacoby LB, von Deimling A, Gusella JF, Louis DN. Analysis of the neurofibromatosis 2 gene in human ependymomas and astrocytomas. Cancer Res. 1994 Jan 1; 54(1):45-7.
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  259. Kwiatkowski DJ, Dib C, Slaugenhaupt SA, Povey S, Gusella JF, Haines JL. An index marker map of chromosome 9 provides strong evidence for positive interference. Am J Hum Genet. 1993 Dec; 53(6):1279-88.
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  260. MacCollin M, Mohney T, Trofatter J, Wertelecki W, Ramesh V, Gusella J. 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.
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  261. Gusella JF, MacDonald ME, Ambrose CM, Duyao MP. Molecular genetics of Huntington's disease. Arch Neurol. 1993 Nov; 50(11):1157-63.
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  262. Myers RH, MacDonald ME, Gusella JF. Discrepancy resolved. Nat Genet. 1993 Nov; 5(3):215.
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  263. 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, et al. 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.
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  264. Church DM, Banks LT, Rogers AC, Graw SL, Housman DE, Gusella JF, Buckler AJ. Identification of human chromosome 9 specific genes using exon amplification. Hum Mol Genet. 1993 Nov; 2(11):1915-20.
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  265. Henske EP, Ozelius L, Gusella JF, Haines JL, Kwiatkowski DJ. A high-resolution linkage map of human 9q34.1. Genomics. 1993 Sep; 17(3):587-91.
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  266. Louis DN, Rubio MP, Correa KM, Gusella JF, von Deimling A. 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.
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  267. Gusella JF. Elastic DNA elements--boon or blight? N Engl J Med. 1993 Aug 19; 329(8):571-2.
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  268. Rubio MP, von Deimling A, Yandell DW, Wiestler OD, Gusella JF, Louis DN. Accumulation of wild type p53 protein in human astrocytomas. Cancer Res. 1993 Aug 1; 53(15):3465-7.
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  269. Snell RG, MacMillan JC, Cheadle JP, Fenton I, Lazarou LP, Davies P, MacDonald ME, Gusella JF, Harper PS, Shaw DJ. Relationship between trinucleotide repeat expansion and phenotypic variation in Huntington's disease. Nat Genet. 1993 Aug; 4(4):393-7.
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  270. Saunders AM, Strittmatter WJ, Schmechel D, George-Hyslop PH, Pericak-Vance MA, Joo SH, Rosi BL, Gusella JF, Crapper-MacLachlan DR, Alberts MJ, et al. Association of apolipoprotein E allele epsilon 4 with late-onset familial and sporadic Alzheimer's disease. Neurology. 1993 Aug; 43(8):1467-72.
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  271. Farrer LA, Cupples LA, Wiater P, Conneally PM, Gusella JF, Myers RH. 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.
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  272. 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.
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  273. Bernards A, Snijders AJ, Hannigan GE, Murthy AE, Gusella JF. 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.
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  274. 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.
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  275. Ramesh N, Ramesh V, Gusella JF, Geha R. Chromosomal localization of the gene for human B-cell antigen CD40. Somat Cell Mol Genet. 1993 May; 19(3):295-8.
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  276. Tagle DA, Blanchard-McQuate KL, Valdes J, Castilla L, MacDonald ME, Gusella JF, Collins FS. Dinucleotide repeat polymorphism in the Huntington's disease region at the D4S182 locus. Hum Mol Genet. 1993 Apr; 2(4):489.
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  277. Cannon SC, McClatchey AI, Gusella JF. 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.
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  278. Wyandt HE, Milunsky J, Lerner T, Gusella JF, Hou A, MacDonald M, Adekunle S, Milunsky A. Characterization of a duplication in the terminal band of 4p by molecular cytogenetics. Am J Med Genet. 1993 Apr 1; 46(1):72-6.
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  279. Snell RG, Doucette-Stamm LA, Gillespie KM, Taylor SA, Riba L, Bates GP, Altherr MR, MacDonald ME, Gusella JF, Wasmuth JJ, et al. 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.
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  280. MacCollin M, Romano D, Budarf M, Denny C, Trofatter J, Menon A, Rouleau G, Fontaine B, Emanuel B, Gusella J. A set of STS assays targeting the chromosome 22 physical framework markers. Genomics. 1993 Mar; 15(3):680-3.
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  281. 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.
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  282. Pericak-Vance MA, St George-Hyslop PH, Gaskell PC, Growdon J, Crain BJ, Hulette C, Gusella JF, Yamaoka L, Tanzi RE, Roses AD, et al. Linkage analysis in familial Alzheimer disease: description of the Duke and Boston data sets. Genet Epidemiol. 1993; 10(6):361-4.
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  283. The I, Murthy AE, Hannigan GE, Jacoby LB, Menon AG, Gusella JF, Bernards A. Neurofibromatosis type 1 gene mutations in neuroblastoma. Nat Genet. 1993 Jan; 3(1):62-6.
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  284. Gusella JF, MacDonald ME. Hunting for Huntington's disease. Mol Genet Med. 1993; 3:139-58.
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  285. Yan W, Boustany RM, Konradi C, Ozelius L, Lerner T, Trofatter JA, Julier C, Breakefield XO, Gusella JF, Haines JL. Localization of juvenile, but not late-infantile, neuronal ceroid lipofuscinosis on chromosome 16. Am J Hum Genet. 1993 Jan; 52(1):89-95.
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  286. 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.
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  287. 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, et al. Genetic evidence for a novel familial Alzheimer's disease locus on chromosome 14. Nat Genet. 1992 Dec; 2(4):330-4.
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  288. 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.
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  289. Bernards A, Haase VH, Murthy AE, Menon A, Hannigan GE, Gusella JF. 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.
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  290. 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.
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  291. Wasco W, Bupp K, Magendantz M, Gusella JF, Tanzi RE, Solomon F. 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.
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  292. Donaldson DH, Rosen DR, O'Regan J, Sapp PC, Horvitz HR, Gusella JF, Haines JL, Pestka S, Jung V, Nusbaum C, et al. Two independent dinucleotide repeat polymorphisms at the D21S235 locus (21q22.1). Hum Mol Genet. 1992 Nov; 1(8):651.
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  293. Grafton ST, Mazziotta JC, Pahl JJ, St George-Hyslop P, Haines JL, Gusella J, Hoffman JM, Baxter LR, Phelps ME. 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.
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  294. Altherr MR, Gusella JF, Wasmuth JJ, Kummer MA, McKercher SW, Johnson VP. 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 1; 44(4):449-54.
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  295. 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.
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  296. Tanzi RE, Romano DM, Berger R, Buraczynska MJ, Gaston SM, Kurnit DM, Patterson D, Gusella JF, Stewart GD. Sequence-tagged sites (STSs) for a set of mapped markers on chromosome 21. Genomics. 1992 Oct; 14(2):498-502.
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  297. McClatchey AI, Lin CS, Wang J, Hoffman EP, Rojas C, Gusella JF. The genomic structure of the human skeletal muscle sodium channel gene. Hum Mol Genet. 1992 Oct; 1(7):521-7.
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  298. Youngman S, Bates GP, Williams S, McClatchey AI, Baxendale S, Sedlacek Z, Altherr M, Wasmuth JJ, MacDonald ME, Gusella JF, et al. 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.
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  299. McClatchey AI, McKenna-Yasek D, Cros D, Worthen HG, Kuncl RW, DeSilva SM, Cornblath DR, Gusella JF, Brown RH. Novel mutations in families with unusual and variable disorders of the skeletal muscle sodium channel. Nat Genet. 1992 Oct; 2(2):148-52.
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  300. Rosen DR, Sapp PC, O'Regan J, Horvitz HR, Donaldson DH, Nussbaum C, Gusella JF, Haines JL, Pestka S, Jung V, et al. Dinucleotide repeat polymorphisms (D21S223 and D21S224) at 21q22.1. Hum Mol Genet. 1992 Oct; 1(7):547.
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  301. 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.
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  302. von Deimling A, von Deimling F, Louis DN, Trofatter J, Gusella JF, Seizinger BR. A RsaI polymorphism in the ERCC2 locus. Hum Mol Genet. 1992 Aug; 1(5):355.
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  303. Altherr MR, Plummer S, Bates G, MacDonald M, Taylor S, Lehrach H, Frischauf AM, Gusella JF, Boehnke M, Wasmuth JJ. Radiation hybrid map spanning the Huntington disease gene region of chromosome 4. Genomics. 1992 Aug; 13(4):1040-6.
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  304. Snell RG, Thompson LM, Tagle DA, Holloway TL, Barnes G, Harley HG, Sandkuijl LA, MacDonald ME, Collins FS, Gusella JF, et al. A recombination event that redefines the Huntington disease region. Am J Hum Genet. 1992 Aug; 51(2):357-62.
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  305. Taylor SA, Barnes GT, MacDonald ME, Gusella JF. A dinucleotide repeat polymorphism at the D4S127 locus. Hum Mol Genet. 1992 May; 1(2):142.
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  306. Ozelius L, Schuback DE, Stefansson K, Slaugenhaupt S, Gusella JF, Breakefield XO. Dinucleotide repeat polymorphism for the hexabrachion gene (HXB) on chromosome 9q32-34. Hum Mol Genet. 1992 May; 1(2):141.
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  307. Gusella JF, Altherr MR, McClatchey AI, Doucette-Stamm LA, Tagle D, Plummer S, Groot N, Barnes G, Hummerich H, Collins FS, et al. Sequence-tagged sites (STSs) spanning 4p16.3 and the Huntington disease candidate region. Genomics. 1992 May; 13(1):75-80.
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  308. Ozelius LJ, Kramer PL, de Leon D, Risch N, Bressman SB, Schuback DE, Brin MF, Kwiatkowski DJ, Burke RE, Gusella JF, et al. 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.
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  309. Tanzi RE, Watkins PC, Stewart GD, Wexler NS, Gusella JF, Haines JL. 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.
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  310. Kwiatkowski DJ, Gusella JF. Dinucleotide repeat polymorphism at the D9S112 locus (9q31-34). Nucleic Acids Res. 1992 Feb 25; 20(4):930.
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  311. Kwiatkowski DJ, Gusella JF. Dinucleotide repeat polymorphism at the D9S120 locus (9q31-34). Nucleic Acids Res. 1992 Feb 25; 20(4):933.
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  312. Kwiatkowski DJ, Gusella JF. Dinucleotide repeat polymorphism at the D9S121 locus (9q31-34). Nucleic Acids Res. 1992 Feb 25; 20(4):933.
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  313. Kwiatkowski DJ, Gusella JF. Dinucleotide repeat polymorphism at the D9S117 locus (9q31-34). Nucleic Acids Res. 1992 Feb 25; 20(4):931.
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  314. Kwiatkowski DJ, Gusella JF. Dinucleotide repeat polymorphism at the D9S115 locus (9q31-34). Nucleic Acids Res. 1992 Feb 25; 20(4):930.
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  315. Kwaitkowski DJ, Gusella JF. Dinucleotide repeat polymorphism at the D9S123 locus (9q31-34). Nucleic Acids Res. 1992 Feb 25; 20(4):934.
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  316. 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.
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  317. Kwiatkowski DJ, Gusella JF. Dinucleotide repeat polymorphism at the D9S119 locus (9q22-34). Nucleic Acids Res. 1992 Feb 25; 20(4):932.
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  318. Kwiatkowski DJ, Gusella JF. Dinucleotide repeat polymorphism at the D9S118 locus (9q31-34). Nucleic Acids Res. 1992 Feb 25; 20(4):932.
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  319. Kwiatkowski DJ, Gusella JF. Dinucleotide repeat polymorphism at the D9S116 locus (9q31-34). Nucleic Acids Res. 1992 Feb 25; 20(4):931.
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  320. Haines JL, Yan WL, Boustany RM, Jewell A, Julier C, Breakefield XO, Gusella JF. Linkage analysis in juvenile neuronal ceroid lipofuscinosis. Am J Med Genet. 1992 Feb 15; 42(4):542-5.
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  321. Baxter LR, Mazziotta JC, Pahl JJ, Grafton ST, St George-Hyslop P, Haines JL, Gusella JF, Szuba MP, Selin CE, Guze BH, et al. Psychiatric, genetic, and positron emission tomographic evaluation of persons at risk for Huntington's disease. Arch Gen Psychiatry. 1992 Feb; 49(2):148-54.
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  322. Kwiatkowski DJ, Henske EP, Weimer K, Ozelius L, Gusella JF, Haines J. Construction of a GT polymorphism map of human 9q. Genomics. 1992 Feb; 12(2):229-40.
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  323. Koizumi T, MacDonald M, Búcan M, Hopwood JJ, Morris CP, Scott HS, Gusella JF, Nadeau JH. 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.
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  324. Haines JL, Trofatter JA, Tanzi RE, Watkins P, Wexler NS, Conneally PM, Gusella JF. Chromosome 21 genetic linkage data set based on the Venezuelan reference pedigree. Cytogenet Cell Genet. 1992; 59(2-3):88-9.
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  325. Park JK, O'Donnell JJ, Shih VE, Gusella JF, Ramesh V. A 15-bp deletion in exon 5 of the ornithine aminotransferase (OAT) locus associated with gyrate atrophy. Hum Mutat. 1992; 1(4):293-7.
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  326. Ramesh V, Cheng SV, Kozak CA, Herron BJ, Shih VE, Taylor BA, Gusella JF. Mapping of ornithine aminotransferase gene sequences to mouse chromosomes 7, X, and 3. Mamm Genome. 1992; 3(1):17-22.
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  327. Ambrose C, Cheng S, Fontaine B, Nadeau JH, MacDonald M, Gusella JF. 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.
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  328. Baxendale S, Bates GP, MacDonald ME, Gusella JF, Lehrach H. The direct screening of cosmid libraries with YAC clones. Nucleic Acids Res. 1991 Dec 11; 19(23):6651.
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  329. Thompson LM, Plummer S, Schalling M, Altherr MR, Gusella JF, Housman DE, Wasmuth JJ. 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.
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  330. Altherr MR, Bengtsson U, Elder FF, Ledbetter DH, Wasmuth JJ, McDonald ME, Gusella JF, Greenberg F. Molecular confirmation of Wolf-Hirschhorn syndrome with a subtle translocation of chromosome 4. Am J Hum Genet. 1991 Dec; 49(6):1235-42.
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  331. Tanzi RE, George-Hyslop PS, Gusella JF. Molecular genetics of Alzheimer disease amyloid. J Biol Chem. 1991 Nov 5; 266(31):20579-82.
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  332. Lazarou LP, Snell RG, MacDonald ME, Gusella JF, Wasmuth JJ, Shaw DJ. MboI RFLP at the D4S43 (C4H) locus. Nucleic Acids Res. 1991 Oct 11; 19(19):5445.
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  333. Konradi C, Ozelius L, Yan W, Gusella JF, Breakefield XO. Dinucleotide repeat polymorphism (D16S285) on human chromosome 16. Nucleic Acids Res. 1991 Oct 11; 19(19):5449.
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  334. Haines JL, Short MP, Kwiatkowski DJ, Jewell A, Andermann E, Bejjani B, Yang CH, Gusella JF, Amos JA. 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.
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  335. 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.
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  336. Horn GT, McClatchey AI, Richards B, MacDonald ME, Gusella JF. Detection by PCR of a VNTR polymorphism at D4S43. Nucleic Acids Res. 1991 Sep 11; 19(17):4772.
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  337. 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.
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  338. 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.
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  339. Kwiatkowski DJ, Ozelius L, Kramer PL, Perman S, Schuback DE, Gusella JF, Fahn S, Breakefield XO. 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.
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  340. Allitto BA, Horn GT, Altherr MR, Richards B, McClatchey AI, Wasmuth JJ, Gusella JF. Detection by PCR of the VNTR polymorphism at D4S95. Nucleic Acids Res. 1991 Jul 25; 19(14):4015.
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  341. Bates GP, MacDonald ME, Baxendale S, Youngman S, Lin C, Whaley WL, Wasmuth JJ, Gusella JF, Lehrach H. Defined physical limits of the Huntington disease gene candidate region. Am J Hum Genet. 1991 Jul; 49(1):7-16.
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  342. MacDonald ME, Scott HS, Whaley WL, Pohl T, Wasmuth JJ, Lehrach H, Morris CP, Frischauf AM, Hopwood JJ, Gusella JF. Huntington disease-linked locus D4S111 exposed as the alpha-L-iduronidase gene. Somat Cell Mol Genet. 1991 Jul; 17(4):421-5.
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  343. Trofatter JA, Gusella JF, Haines JL. Dinucleotide repeat polymorphism at the debrisoquine 4-hydroxylase (CYP2D) locus. Nucleic Acids Res. 1991 May 25; 19(10):2802.
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  344. Tzall S, Martiniuk F, Ozelius L, Gusella J, Hirschhorn R. Further characterization of PstI RFLPs at the acid alpha glucosidase (GAA) locus. Nucleic Acids Res. 1991 Apr 11; 19(7):1727.
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  345. Ramesh V, Gusella JF, Shih VE. Molecular pathology of gyrate atrophy of the choroid and retina due to ornithine aminotransferase deficiency. Mol Biol Med. 1991 Feb; 8(1):81-93.
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  346. 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.
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  347. Brown RH, Horvitz HR, Rouleau GA, McKenna-Yasek D, Beard C, Sapp P, Haines JL, Gusella JF, Figlewicz DA. Gene linkage in familial amyotrophic lateral sclerosis: a progress report. Adv Neurol. 1991; 56:215-26.
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  348. Gusella JF. 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.
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  349. Fontaine B, Rouleau GA, Seizinger BR, Menon AG, Jewell AF, Martuza RL, Gusella JF. Molecular genetics of neurofibromatosis 2 and related tumors (acoustic neuroma and meningioma). Ann N Y Acad Sci. 1991; 615:338-43.
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  350. Fontaine B, Trofatter J, Rouleau GA, Khurana TS, Haines J, Brown R, Gusella JF. Different gene loci for hyperkalemic and hypokalemic periodic paralysis. Neuromuscul Disord. 1991; 1(4):235-8.
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  351. Gusella JF. Huntington's disease. Adv Hum Genet. 1991; 20:125-51.
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  352. Fontaine B, Rouleau GA, Seizinger B, Jewell AF, Hanson MP, Martuza RL, Gusella JF. 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.
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  353. Grafton ST, Mazziotta JC, Pahl JJ, St George-Hyslop P, Haines JL, Gusella J, Hoffman JM, Baxter LR, Phelps ME. 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.
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  354. McClatchey AI, Kaufman DL, Berson EL, Tobin AJ, Shih VE, Gusella JF, Ramesh V. Splicing defect at the ornithine aminotransferase (OAT) locus in gyrate atrophy. Am J Hum Genet. 1990 Nov; 47(5):790-4.
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  355. Fontaine B, Hanson MP, Liou HC, Glimcher LH, Rouleau GA, Gusella JF. BanI polymorphism at the XBP1 locus. Nucleic Acids Res. 1990 Sep 25; 18(18):5578.
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  356. 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, et al. Genetic linkage studies suggest that Alzheimer's disease is not a single homogeneous disorder. Nature. 1990 Sep 13; 347(6289):194-7.
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  357. Menon AG, Gusella JF, Seizinger BR. Progress toward the isolation and characterization of the genes causing neurofibromatosis. Brain Pathol. 1990 Sep; 1(1):33-40.
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  358. Haines JL, Ozelius LJ, McFarlane H, Menon A, Tzall S, Martiniuk F, Hirschhorn R, Gusella JF. A genetic linkage map of chromosome 17. Genomics. 1990 Sep; 8(1):1-6.
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  359. Rouleau GA, Bazanowski A, Gusella JF, Haines JL. A genetic map of chromosome 1: comparison of different data sets and linkage programs. Genomics. 1990 Jul; 7(3):313-8.
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  360. Bates GP, MacDonald ME, Baxendale S, Sedlacek Z, Youngman S, Romano D, Whaley WL, Allitto BA, Poustka A, Gusella JF, et al. 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.
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  361. Rouleau GA, Seizinger BR, Wertelecki W, Haines JL, Superneau DW, Martuza RL, Gusella JF. Flanking markers bracket the neurofibromatosis type 2 (NF2) gene on chromosome 22. Am J Hum Genet. 1990 Feb; 46(2):323-8.
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  362. 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.
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  363. Menon AG, Gusella JF, Seizinger BR. Progress towards the isolation and characterization of the genes causing neurofibromatosis. Cancer Surv. 1990; 9(4):689-702.
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  364. Palmert MR, Podlisny MB, Golde TE, Cohen ML, Kovacs DM, Tanzi RE, Gusella JF, Whitehouse PJ, Witker DS, Oltersdorf T, et al. Analysis of the beta-amyloid protein precursor of Alzheimer's disease: mRNAs and protein products. Adv Neurol. 1990; 51:181-4.
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  365. Ikonen E, Palo J, Ott J, Gusella J, Somer H, Karila L, Palotie A, Peltonen L. 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.
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  366. Tanzi RE, Haines JL, Gusella JF. Detailed genetic linkage map of human chromosome 21: patterns of recombination according to age and sex. Prog Clin Biol Res. 1990; 360:15-26.
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  367. Ozelius L, Gusella JF, Breakefield XO. MspI RFLP for human MAOA gene. Nucleic Acids Res. 1989 Dec 25; 17(24):10516.
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  368. St George-Hyslop PH, Haines JL, Polinsky RJ, Tanzi RE, Farrer L, Myers RH, Gusella JF. Molecular genetics of familial Alzheimer's disease. Can J Neurol Sci. 1989 Nov; 16(4 Suppl):465-7.
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  369. Youngman S, Sarfarazi M, Bucan M, MacDonald M, Smith B, Zimmer M, Gilliam C, Frischauf AM, Wasmuth JJ, Gusella JF, et al. 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.
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  370. Sax DS, Bird ED, Gusella JF, Myers RH. Phenotypic variation in 2 Huntington's disease families with linkage to chromosome 4. Neurology. 1989 Oct; 39(10):1332-6.
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  371. Myers RH, Leavitt J, Farrer LA, Jagadeesh J, McFarlane H, Mastromauro CA, Mark RJ, Gusella JF. Homozygote for Huntington disease. Am J Hum Genet. 1989 Oct; 45(4):615-8.
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  372. St George-Hyslop PH, Myers RH, Haines JL, Farrer LA, Tanzi RE, Abe K, James MF, Conneally PM, Polinsky RJ, Gusella JF. Familial Alzheimer's disease: progress and problems. Neurobiol Aging. 1989 Sep-Oct; 10(5):417-25.
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  373. Gusella JF. Location cloning strategy for characterizing genetic defects in Huntington's disease and Alzheimer's disease. FASEB J. 1989 Jul; 3(9):2036-41.
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  374. 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.
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  375. Kwiatkowski DJ, Ozelius L, Schuback D, Gusella J, Breakefield XO. The gelsolin (GSN) cDNA clone, from 9q32-34, identifies BclI and StuI RFLPs. Nucleic Acids Res. 1989 Jun 12; 17(11):4425.
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  376. Fountain JW, Wallace MR, Bruce MA, Seizinger BR, Menon AG, Gusella JF, Michels VV, Schmidt MA, Dewald GW, Collins FS. Physical mapping of a translocation breakpoint in neurofibromatosis. Science. 1989 Jun 2; 244(4908):1085-7.
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  377. Tanzi RE, St George-Hyslop PH, Gusella JF. Molecular genetic approaches to Alzheimer's disease. Trends Neurosci. 1989 Apr; 12(4):152-8.
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  378. Palmert MR, Podlisny MB, Golde TE, Cohen ML, Kovacs DM, Tanzi RE, Gusella JF, Whitehouse PJ, Witker DS, Oltersdorf T, et al. The beta amyloid protein precursor: mRNAs, membrane-associated forms, and soluble derivatives. Prog Clin Biol Res. 1989; 317:971-84.
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  379. St George-Hyslop PH, Tanzi RE, Haines JL, Polinsky RJ, Farrer L, Myers RH, Gusella JF. Molecular genetics of familial Alzheimer's disease. Eur Neurol. 1989; 29 Suppl 3:25-7.
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  380. Rouleau GA, Haines JL, Bazanowski A, Colella-Crowley A, Trofatter JA, Wexler NS, Conneally PM, Gusella JF. A genetic linkage map of the long arm of human chromosome 22. Genomics. 1989 Jan; 4(1):1-6.
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  381. Rouleau GA, Bazanowski A, Cohen EH, Guellaen G, Gusella JF. Gamma-glutamyl transferase locus (GGT) displays a PvuII polymorphism. Nucleic Acids Res. 1988 Dec 23; 16(24):11848.
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  382. Geissler EN, Cheng SV, Gusella JF, Housman DE. 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.
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  383. Patterson D, Gardiner K, Kao FT, Tanzi R, Watkins P, Gusella JF. 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.
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  384. 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.
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  385. 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.
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  386. 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.
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  387. Wertelecki W, Rouleau GA, Superneau DW, Forehand LW, Williams JP, Haines JL, Gusella JF. Neurofibromatosis 2: clinical and DNA linkage studies of a large kindred. N Engl J Med. 1988 Aug 4; 319(5):278-83.
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  388. 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.
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  389. Cheng SV, Nadeau JH, Tanzi RE, Watkins PC, Jagadesh J, Taylor BA, Haines JL, Sacchi N, Gusella JF. 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.
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  390. Tanzi RE, Haines JL, Watkins PC, Stewart GD, Wallace MR, Hallewell R, Wong C, Wexler NS, Conneally PM, Gusella JF. Genetic linkage map of human chromosome 21. Genomics. 1988 Aug; 3(2):129-36.
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  391. Sacchi N, Gusella JF, Perroni L, Bricarelli FD, Papas TS. 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.
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  392. Ramesh V, McClatchey AI, Ramesh N, Benoit LA, Berson EL, Shih VE, Gusella JF. 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.
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  393. Graw S, Davidson J, Gusella J, Watkins P, Tanzi R, Neve R, Patterson D. Irradiation-reduced human chromosome 21 hybrids. Somat Cell Mol Genet. 1988 May; 14(3):233-42.
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  394. Münke M, Foellmer B, Watkins PC, Cowan JM, Carroll AJ, Gusella JF, Francke U. 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.
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  395. Meissen GJ, Myers RH, Mastromauro CA, Koroshetz WJ, Klinger KW, Farrer LA, Watkins PA, Gusella JF, Bird ED, Martin JB. Predictive testing for Huntington's disease with use of a linked DNA marker. N Engl J Med. 1988 Mar 3; 318(9):535-42.
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  396. Youngman S, Shaw DJ, Gusella JF, MacDonald M, Stanbridge EJ, Wasmuth J, Harper PS. A DNA probe, D5 [D4S90] mapping to human chromosome 4p16.3. Nucleic Acids Res. 1988 Feb 25; 16(4):1648.
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  397. Rouleau GA, Kurnit DM, Neve RL, Bazanowsky A, Patterson D, Gusella JF. D22S15--a fetal brain cDNA with BanII and SacI RFLP. Nucleic Acids Res. 1988 Feb 25; 16(4):1646.
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  398. Tanzi RE, McClatchey AI, Lamperti ED, Villa-Komaroff L, Gusella JF, Neve RL. Protease inhibitor domain encoded by an amyloid protein precursor mRNA associated with Alzheimer's disease. Nature. 1988 Feb 11; 331(6156):528-30.
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  399. Ramesh V, Benoit LA, Crawford P, Harvey PT, Shows TB, Shih VE, Gusella JF. The ornithine aminotransferase (OAT) locus: analysis of RFLPs in gyrate atrophy. Am J Hum Genet. 1988 Feb; 42(2):365-72.
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  400. Gilliam TC, Gusella JF, Lehrach H. Molecular genetic strategies to investigate Huntington's disease. Adv Neurol. 1988; 48:17-29.
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  401. Wu J, Ramesh V, Kidd JR, Castiglione CM, Myers S, Carson N, Anderson L, Gusella JF, Simpson NE, Kidd KK. 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.
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  402. Kramer PL, Ozelius L, Brin MF, Fahn S, Kidd KK, Gusella J, Breakefield XO. Molecular genetics of an autosomal dominant form of torsion dystonia. Adv Neurol. 1988; 50:57-66.
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  403. Martuza RL, Seizinger BR, Jacoby LB, Rouleau GA, Gusella JF. The molecular biology of human glial tumors. Trends Neurosci. 1988 Jan; 11(1):22-7.
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  404. Haines JL, Ozelius L, St George-Hyslop P, Wexler NS, Gusella JF, Conneally PM. Partial linkage map of chromosome 13q in the region of the Wilson disease and retinoblastoma genes. Genet Epidemiol. 1988; 5(6):375-80.
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  405. Holmgren G, Almqvist EW, Anvret M, Conneally M, Hobbs W, Mattsson B, Wahlström J, Winblad B, Gusella JF. Linkage of G8 (D4S10) in two Swedish families with Huntington's disease. Clin Genet. 1987 Nov; 32(5):289-94.
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  406. Cheng SV, Gross Lugo T, Tanzi RE, Whitney JB, Fournier RE, Gusella JF. Chromosomal localization of the mouse homolog of the Huntington's disease linked G8 (D4S10) marker. DNA. 1987 Oct; 6(5):401-7.
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  407. 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.
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  408. Tanzi RE, St George-Hyslop PH, Haines JL, Polinsky RJ, Nee L, Foncin JF, Neve RL, McClatchey AI, Conneally PM, Gusella JF. 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.
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  409. MacDonald ME, Anderson MA, Lockyer JL, Milstien S, Hobbs WJ, Faryniarz AG, Kaufman S, Ledley FD, Woo SL, Gusella JF. 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.
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  410. 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.
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  411. 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.
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  412. Ramesh V, Eddy R, Bruns GA, Shih VE, Shows TB, Gusella JF. Localization of the ornithine aminotransferase gene and related sequences on two human chromosomes. Hum Genet. 1987 Jun; 76(2):121-6.
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  413. Watkins PC, Eddy R, Beck AK, Vellucci V, Leverone B, Tanzi RE, Gusella JF, Shows TB. 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.
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  414. Watkins PC, Tanzi RE, Cheng SV, Gusella JF. Molecular genetics of human chromosome 21. J Med Genet. 1987 May; 24(5):257-70.
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  415. Seizinger BR, Rouleau G, Ozelius LJ, Lane AH, St George-Hyslop P, Huson S, Gusella JF, Martuza RL. Common pathogenetic mechanism for three tumor types in bilateral acoustic neurofibromatosis. Science. 1987 Apr 17; 236(4799):317-9.
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  416. Davies KE, Gusella JF, Tsui LC, Williamson R, Page DC, Ferguson-Smith MA. Valuable libraries. Nature. 1987 Mar 12-18; 326(6109):124.
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  417. Gilliam TC, Healey ST, MacDonald ME, Stewart GD, Wasmuth JJ, Tanzi RE, Roy JC, Gusella JF. Isolation of polymorphic DNA fragments from human chromosome 4. Nucleic Acids Res. 1987 Feb 25; 15(4):1445-58.
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  418. 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.
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  419. Gusella JF, Wexler NS, Conneally PM. A molecular genetic approach to Huntington's disease. Res Publ Assoc Res Nerv Ment Dis. 1987; 65:133-41.
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  420. Gusella JF, Wasmuth JJ. Report of the committee on the genetic constitution of chromosomes 3 and 4. Cytogenet Cell Genet. 1987; 46(1-4):131-46.
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  421. Seizinger BR, Martuza RL, Rouleau G, Breakefield XO, Gusella JF. Models for inherited susceptibility to cancer in the nervous system: a molecular-genetic approach to neurofibromatosis. Dev Neurosci. 1987; 9(3):144-53.
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  422. Kramer PL, Ozelius L, Gusella JF, Fahn S, Kidd KK, Breakefield XO. 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.
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  423. 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.
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  424. Martin JB, Gusella JF. Huntington's disease. Pathogenesis and management. N Engl J Med. 1986 Nov 13; 315(20):1267-76.
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  425. Gusella JF. Accuracy of testing for Huntington's disease. Nature. 1986 Sep 11-17; 323(6084):118.
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  426. 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.
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  427. Ozelius L, Mandel JL, Gusella JF, Breakefield XO. A new RFLP for D18S3(B74) an anonymous genomic clone localized to 18p113. Nucleic Acids Res. 1986 Aug 26; 14(16):6782.
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  428. Seizinger BR, Martuza RL, Gusella JF. Loss of genes on chromosome 22 in tumorigenesis of human acoustic neuroma. Nature. 1986 Aug 14-20; 322(6080):644-7.
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  429. Youngman S, Sarfarazi M, Quarrell OW, Conneally PM, Gibbons K, Harper PS, Shaw DJ, Tanzi RE, Wallace MR, Gusella JF. Studies of a DNA marker (G8) genetically linked to Huntington disease in British families. Hum Genet. 1986 Aug; 73(4):333-9.
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  430. Van Keuren ML, Watkins PC, Drabkin HA, Jabs EW, Gusella JF, Patterson D. Regional localization of DNA sequences on chromosome 21 using somatic cell hybrids. Am J Hum Genet. 1986 Jun; 38(6):793-804.
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  431. Gusella JF. Recombinant DNA techniques in the diagnosis of inherited disorders. J Clin Invest. 1986 Jun; 77(6):1723-6.
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  432. 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.
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  433. 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.
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  434. Seizinger BR, Tanzi RE, Gilliam TC, Bader JL, Parry DM, Spence MA, Marazita ML, Gibbons K, Hobbs W, Gusella JF. Genetic linkage analysis of neurofibromatosis with DNA markers. Ann N Y Acad Sci. 1986; 486:304-10.
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  435. Gusella JF. DNA polymorphism and human disease. Annu Rev Biochem. 1986; 55:831-54.
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  436. 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.
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  437. Gusella JF, Gilliam TC, Tanzi RE, MacDonald ME, Cheng SV, Wallace M, Haines J, Conneally PM, Wexler NS. Molecular genetics of Huntington's disease. Cold Spring Harb Symp Quant Biol. 1986; 51 Pt 1:359-64.
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  438. Kidd KK, Kidd JR, Castiglione CM, Genel M, Darby J, Cavalli-Sforza LL, Gusella JF. 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.
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  439. 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.
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  440. Gusella JF, Tanzi RE, Bader PI, Phelan MC, Stevenson R, Hayden MR, Hofman KJ, Faryniarz AG, Gibbons K. Deletion of Huntington's disease-linked G8 (D4S10) locus in Wolf-Hirschhorn syndrome. Nature. 1985 Nov 7-13; 318(6041):75-8.
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  441. Stewart GD, Tanzi RE, Gusella JF. RFLPS at the D21S19 locus of human chromosome 21. Nucleic Acids Res. 1985 Oct 11; 13(19):7168.
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  442. Watkins PC, Tanzi RE, Gibbons KT, Tricoli JV, Landes G, Eddy R, Shows TB, Gusella JF. Isolation of polymorphic DNA segments from human chromosome 21. Nucleic Acids Res. 1985 Sep 11; 13(17):6075-88.
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  443. Kittur SD, Antonarakis SE, Tanzi RE, Meyers DA, Chakravarti A, Groner Y, Phillips JA, Watkins PC, Gusella JF, Kazazian HH. A linkage map of three anonymous human DNA fragments and SOD-1 on chromosome 21. EMBO J. 1985 Sep; 4(9):2257-60.
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  444. de Martinville B, Kunkel LM, Bruns G, Morlé F, Koenig M, Mandel JL, Horwich A, Latt SA, Gusella JF, Housman D, et al. Localization of DNA sequences in region Xp21 of the human X chromosome: search for molecular markers close to the Duchenne muscular dystrophy locus. Am J Hum Genet. 1985 Mar; 37(2):235-49.
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  445. Kidd KK, Gusella J. Report of the Committee on the Genetic Constitution of Chromosomes 3 and 4. Cytogenet Cell Genet. 1985; 40(1-4):107-27.
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  446. Wexler NS, Conneally PM, Housman D, Gusella JF. A DNA polymorphism for Huntington's disease marks the future. Arch Neurol. 1985 Jan; 42(1):20-4.
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  447. Gusella JF, Tanzi RE, Watkins PC, Gibbons KT, Hobbs WJ, Faryniarz AG, Healey ST, Anderson MA. Genetic linkage map for chromosome 21. Ann N Y Acad Sci. 1985; 450:25-31.
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  448. Conneally PM, Gusella JF, Wexler NS. Huntingtons disease: linkage with G8 on chromosome 4 and its consequences. Prog Clin Biol Res. 1985; 177:53-60.
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  449. Antonarakis SE, Kittur SD, Metaxotou C, Bartsocas C, Kitsiou S, Watkins PC, Patel AS, Warren AC, Gusella JF, Groner Y, et al. 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.
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  450. Kazazian HH, Antonarakis SE, Wong C, Trusko SP, Stetten G, Oliver M, Potter MJ, Gusella JF, Watkins PC. Ring chromosome 21: characterization of DNA sequences at sites of breakage and reunion. Ann N Y Acad Sci. 1985; 450:33-42.
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  451. Patterson D, van Keuren M, Drabkin H, Watkins P, Gusella J, Scoggin C. Molecular analysis of chromosome 21 using somatic cell hybrids. Ann N Y Acad Sci. 1985; 450:109-20.
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  452. Gusella JF. Genetic linkage of the Huntington's disease gene to a DNA marker. Can J Neurol Sci. 1984 Nov; 11(4):421-5.
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  453. Anderson MA, Gusella JF. Use of cyclosporin A in establishing Epstein-Barr virus-transformed human lymphoblastoid cell lines. In Vitro. 1984 Nov; 20(11):856-8.
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  454. Minden MD, Gusella JF, Housman D. Chromosome-mediated transfer of the malignant phenotype by human acute myelogenous leukemic cells. Blood. 1984 Oct; 64(4):842-6.
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  455. Gusella JF, Tanzi RE, Anderson MA, Hobbs W, Gibbons K, Raschtchian R, Gilliam TC, Wallace MR, Wexler NS, Conneally PM. DNA markers for nervous system diseases. Science. 1984 Sep 21; 225(4668):1320-6.
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  456. Amos JA, Fleming BC, Gusella JF, Jacoby LB. Relative argininosuccinate synthetase mRNA levels and gene copy number in canavanine-resistant lymphoblasts. Biochim Biophys Acta. 1984 Jul 18; 782(3):247-53.
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  457. 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.
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  458. Fisher JH, Gusella JF, Scoggin CH. 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.
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  459. Gusella JF, Wexler NS, Conneally PM, Naylor SL, Anderson MA, Tanzi RE, Watkins PC, Ottina K, Wallace MR, Sakaguchi AY, et al. A polymorphic DNA marker genetically linked to Huntington's disease. Nature. 1983 Nov 17-23; 306(5940):234-8.
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  460. Housman D, Gusella JF. Application of recombinant DNA techniques to neurogenetic disorders. Res Publ Assoc Res Nerv Ment Dis. 1983; 60:167-72.
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  461. Gusella JF, Jones C, Kao FT, Housman D, Puck TT. 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.
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  462. Gusella JF, Tsiftsoglou AS, Volloch V, Weil SC, Neumann J, Housman DE. Dissociation of hemoglobin accumulation and commitment during murine erythroleukemia cell differentiation by treatment with imidazole. J Cell Physiol. 1982 Oct; 113(1):179-85.
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  463. Hoffmann JW, Steffen D, Gusella J, Tabin C, Bird S, Cowing D, Weinberg RA. DNA methylation affecting the expression of murine leukemia proviruses. J Virol. 1982 Oct; 44(1):144-57.
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  464. Tsiftsoglou AS, Wong W, Volloch V, Gusella J, Housman D. 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.
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  465. Gusella JF, Weil SC, Tsiftsoglou AS, Volloch V, Neumann JR, Keys C, Housman DE. Hemin does not cause commitment of murine erythroleukemia (MEL) cells to terminal differentiation. Blood. 1980 Sep; 56(3):481-7.
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  466. Gusella JF, Keys C, VarsanyiBreiner A, Kao FT, Jones C, Puck TT, Housman D. Isolation and localization of DNA segments from specific human chromosomes. Proc Natl Acad Sci U S A. 1980 May; 77(5):2829-33.
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  467. Housman D, Levenson R, Volloch V, Tsiftsoglou A, Gusella J, Parker D, Kernen J, Mitrani A, Weeks V, Witte O, Besmer P. Control of proliferation and differentiation in cells transformed by Friend virus. Cold Spring Harb Symp Quant Biol. 1980; 44 Pt 2,:1177-85.
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  468. 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.
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  469. 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.
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  470. Gusella J, Varsanyi-Breiner A, Kao FT, Jones C, Puck TT, Keys C, Orkin S, Housman D. Precise localization of human beta-globin gene complex on chromosome 11. Proc Natl Acad Sci U S A. 1979 Oct; 76(10):5239-42.
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  471. Gusella J, Geller R, Clarke B, Weeks V, Housman D. Commitment to erythroid differentiation by friend erythroleukemia cells: a stochastic analysis. Cell. 1976 Oct; 9(2):221-9.
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  472. Gusella JF, Housman D. Induction of erythroid differentiation in vitro by purines and purine analogues. Cell. 1976 Jun; 8(2):263-9.
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