James Gusella headshot
James Francis Gusella, Ph.D.
Bullard Professor of Neurogenetics in the Department of Genetics
A novel microduplication of ARID1B: Clinical, genetic, and proteomic findings.
Authors: Authors: Seabra CM, Szoko N, Erdin S, Ragavendran A, Stortchevoi A, Maciel P, Lundberg K, Schlatzer D, Smith J, Talkowski ME, Gusella JF, Natowicz MR.
Am J Med Genet A
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Correction: RNA Sequence Analysis of Human Huntington Disease Brain Reveals an Extensive Increase in Inflammatory and Developmental Gene Expression.
Authors: Authors: Labadorf A, Hoss AG, Lagomarsino V, Latourelle JC, Hadzi TC, Bregu J, MacDonald ME, Gusella JF, Chen JF, Akbarian S, Weng Z, Myers RH.
PLoS One
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Expanding the Spectrum of Founder Mutations Causing Isolated Gonadotropin-Releasing Hormone Deficiency.
Authors: Authors: Choi JH, Balasubramanian R, Lee PH, Shaw ND, Hall JE, Plummer L, Buck CL, Kottler ML, Jarzabek K, Wolczynski S, Quinton R, Latronico AC, Dode C, Ogata T, Kim HG, Layman LC, Gusella JF, Crowley WF.
J Clin Endocrinol Metab
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Genetic modifiers of Huntington's disease.
Authors: Authors: Gusella JF, MacDonald ME, Lee JM.
Mov Disord
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Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminus.
Authors: Authors: 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.
Am J Hum Genet
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An evolutionary recent neuroepithelial cell adhesion function of huntingtin implicates ADAM10-Ncadherin.
Authors: Authors: 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.
Nat Neurosci
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Genomewide linkage study of modifiers of LRRK2-related Parkinson's disease.
Authors: Authors: Latourelle JC, Hendricks AE, Pankratz N, Wilk JB, Halter C, Nichols WC, Gusella JF, Destefano AL, Myers RH, Foroud T.
Mov Disord
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Association of the long QT syndrome With goiter and deafness.
Authors: Authors: Gritli S, Ben Salah M, Shili A, Robson CD, Ferjaoui M, Hendaoui L, Belhani A, Jilani SB, Gusella JF, Macrae CA.
Am J Cardiol
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The Gly2019Ser mutation in LRRK2 is not fully penetrant in familial Parkinson's disease: the GenePD study.
Authors: Authors: 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.
BMC Med
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Is the disruption of an N-myristoyltransferase (NMT2) associated with hypoplastic testes?
Authors: Authors: Quintero-Rivera F, Leach NT, de la Chapelle A, Gusella JF, Morton CC, Harris DJ.
Am J Med Genet A
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