James Gusella headshot
James Francis Gusella, Ph.D.
Bullard Professor of Neurogenetics in the Department of Genetics
Bioenergetic deficits in Huntington's disease iPSC-derived neural cells and rescue with glycolytic metabolites.
Authors: Authors: Kedaigle AJ, Fraenkel E, Atwal RS, Wu M, Gusella JF, MacDonald ME, Kaye JA, Finkbeiner S, Mattis VB, Tom CM, Svendsen C, King AR, Chen Y, Stocksdale JT, Lim RG, Casale M, Wang PH, Thompson LM, Akimov SS, Ratovitski T, Arbez N, Ross CA.
Hum Mol Genet
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A complex intragenic rearrangement of ERCC8 in Chinese siblings with Cockayne syndrome.
Authors: Authors: Xie H, Li X, Peng J, Chen Q, Gao Z, Song X, Li W, Xiao J, Li C, Zhang T, Gusella JF, Zhong J, Chen X.
Sci Rep
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A novel neurodevelopmental disorder associated with compound heterozygous variants in the huntingtin gene.
Authors: Authors: Rodan LH, Cohen J, Fatemi A, Gillis T, Lucente D, Gusella J, Picker JD.
Eur J Hum Genet
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A Potential Contributory Role for Ciliary Dysfunction in the 16p11.2 600 kb BP4-BP5 Pathology.
Authors: Authors: Migliavacca E, Golzio C, Männik K, Blumenthal I, Oh EC, Harewood L, Kosmicki JA, Loviglio MN, Giannuzzi G, Hippolyte L, Maillard AM, Alfaiz AA, van Haelst MM, Andrieux J, Gusella JF, Daly MJ, Beckmann JS, Jacquemont S, Talkowski ME, Katsanis N, Reymond A.
Am J Hum Genet
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Describing sequencing results of structural chromosome rearrangements with a suggested next-generation cytogenetic nomenclature.
Authors: Authors: Ordulu Z, Wong KE, Currall BB, Ivanov AR, Pereira S, Althari S, Gusella JF, Talkowski ME, Morton CC.
Am J Hum Genet
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Further molecular characterisation of the OVT73 transgenic sheep model of Huntington's disease identifies cortical aggregates.
Authors: Authors: Reid SJ, Patassini S, Handley RR, Rudiger SR, McLaughlan CJ, Osmand A, Jacobsen JC, Morton AJ, Weiss A, Waldvogel HJ, MacDonald ME, Gusella JF, Bawden CS, Faull RL, Snell RG.
J Huntingtons Dis
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Haploinsufficiency of SOX5 at 12p12.1 is associated with developmental delays with prominent language delay, behavior problems, and mild dysmorphic features.
Authors: Authors: 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.
Hum Mutat
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Next-generation sequencing strategies enable routine detection of balanced chromosome rearrangements for clinical diagnostics and genetic research.
Authors: Authors: 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.
Am J Hum Genet
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Huntingtin facilitates polycomb repressive complex 2.
Authors: Authors: 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.
Hum Mol Genet
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Huntington CAG repeat size does not modify onset age in familial Parkinson's disease: the GenePD study.
Authors: Authors: 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.
Mov Disord
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