Julie Gauthier
Université de Montréal
81 Papers
658 Citations
Julie Gauthier is an academic researcher from Université de Montréal. The author has contributed to research in topics: Medicine & Autism. The author has an hindex of 37, co-authored 72 publications. Previous affiliations of Julie Gauthier include McGill University & Montreal Neurological Institute and Hospital.
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Papers
A genome-wide linkage and association scan reveals novel loci for autism
Lauren A. Weiss,Lauren A. Weiss,Dan E. Arking,Mark J. Daly,Mark J. Daly,Aravinda Chakravarti,Camille W. Brune,Kristen West,Ashley O'Connor,Gina Hilton,Rebecca L. Tomlinson,Andrew B. West,Edwin H. Cook,Todd Green,Shun-Chiao Chang,Stacey Gabriel,Casey Gates,Ellen M. Hanson,Andrew Kirby,Andrew Kirby,Joshua M. Korn,Joshua M. Korn,Finny G Kuruvilla,Finny G Kuruvilla,Steven A. McCarroll,Steven A. McCarroll,Eric M. Morrow,Eric M. Morrow,Eric M. Morrow,Benjamin M. Neale,Benjamin M. Neale,Shaun Purcell,Shaun Purcell,Roksana Sasanfar,Carrie Sougnez,Christine Stevens,David Altshuler,David Altshuler,James F. Gusella,James F. Gusella,Susan L. Santangelo,Pamela Sklar,Pamela Sklar,Rudolph E. Tanzi,Richard Anney,Anthony J. Bailey,Gillian Baird,Agatino Battaglia,Tom Berney,Catalina Betancur,Sven Bölte,Patrick Bolton,Jessica Brian,Susan E. Bryson,Joseph D. Buxbaum,Inês Cabrito,Guiqing Cai,Rita M. Cantor,Hilary Coon,Judith Conroy,Catarina Correia,Christina Corsello,Emily L. Crawford,Michael L. Cuccaro,Geraldine Dawson,Maretha de Jonge,Bernie Devlin,Eftichia Duketis,Sean Ennis,Annette Estes,Penny Farrar,Eric Fombonne,Christine M. Freitag,Louise Gallagher,Daniel H. Geschwind,John R. Gilbert,Michael Gill,Christopher Gillberg,Jeremy Goldberg,Andrew Green,Jonathan Green,Stephen J. Guter,Jonathan L. Haines,Joachim Hallmayer,Vanessa Hus,Sabine M. Klauck,Olena Korvatska,Janine A. Lamb,Magdalena Laskawiec,Marion Leboyer,Ann Le Couteur,Bennett L. Leventha,Xiao-Qing Liu,Catherine Lord,Linda Lotspeich,Elena Maestrini,Tiago R. Magalhaes,William M. Mahoney,Carine Mantoulan,Helen McConachie,Christopher J. McDougle,William M. McMahon,Christian R. Marshall,Judith Miller,Nancy J. Minshew,Anthony P. Monaco,Jeff Munson,John I. Nurnberger,Guiomar Oliveira,Alistair T. Pagnamenta,Katerina Papanikolaou,Jeremy R. Parr,Andrew D. Paterson,Margaret A. Pericak-Vance,Andrew Pickles,Dalila Pinto,Joseph Piven,David J. Posey,Annemarie Poustka,Fritz Poustka,Regina Regan,Jennifer Reichert,Katy Renshaw,Wendy Roberts,Bernadette Rogé,Michael Rutter,Jeff Salt,Gerard D. Schellenberg,Stephen W. Scherer,Val C. Sheffield,James S. Sutcliffe,Peter Szatmari,Katherine E. Tansey,Ann P. Thompson,John Tsiantis,Herman van Engeland,Astrid M. Vicente,Veronica J. Vieland,Fred R. Volkmar,Simon Wallace,Thomas H. Wassink,Ellen M. Wijsman,Kirsty Wing,Kerstin Wittemeyer,Brian L. Yaspan,Lonnie Zwaigenbaum,Seung Yun Yoo,Seung Yun Yoo,Seung Yun Yoo,Robert Sean Hill,Robert Sean Hill,Robert Sean Hill,Nahit Motavalli Mukaddes,Soher Balkhy,Generoso G. Gascon,Generoso G. Gascon,Samira Al-Saad,Asif Hashmi,Janice Ware,Robert M. Joseph,Elaine LeClair,Jennifer N. Partlow,Jennifer N. Partlow,Brenda E. Barry,Brenda E. Barry,Christopher A. Walsh,Christopher A. Walsh,Christopher A. Walsh,David L. Pauls,Irma Moilanen,Hanna Ebeling,Marja Leena Mattila,Sanna Kuusikko,Katja Jussila,Jaakko Ignatius,Ala Tolouei,Majid Ghadami,Maryam Rostami,Azam Hosseinipour,Maryam Valujerdi,Kara Andresen,Brian Winkloski,Stephen A. Haddad,Lou Kunkel,Zak Kohane,Tram Tran,Sek Won Kong,Stephanie Brewster O'Neil,Rachel J. Hundley,Ingrid A. Holm,Heather Peters,Elizabeth Baroni,Aislyn Cangialose,Lindsay Jackson,Lisa H. Albers,Ronald E. Becker,Carolyn Bridgemohan,Sandra L. Friedman,Kerim Munir,Ramzi Nazir,Judith S. Palfrey,Alison Schonwald,Esau Simmons,Leonard Rappaport,Julie Gauthier,Laurent Mottron,Ridha Joober,Guy A. Rouleau,Karola Rehnström,Karola Rehnström,Lennart von Wendt,Lennart von Wendt,Leena Peltonen,Leena Peltonen,Leena Peltonen +214 more
TL;DR: A linkage and association mapping study using half a million genome-wide single nucleotide polymorphisms in a common set of 1,031 multiplex autism families, implicating SEMA5A as an autism susceptibility gene.
Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: A Gradient of Severity in Cognitive Impairments
Claire S. Leblond,Caroline Nava,Anne Polge,Julie Gauthier,Guillaume Huguet,Serge Lumbroso,Fabienne Giuliano,Coline Stordeur,Christel Depienne,Kevin Mouzat,Dalila Pinto,Jennifer L. Howe,Nathalie Lemière,Christelle M. Durand,Jessica Guibert,Elodie Ey,Roberto Toro,Hugo Peyre,Alexandre Mathieu,Frédérique Amsellem,Maria Råstam,I. Carina Gillberg,Gudrun A. Rappold,Richard Holt,Anthony P. Monaco,Elena Maestrini,Pilar Galan,Delphine Héron,Aurélia Jacquette,Alexandra Afenjar,Agnès Rastetter,Alexis Brice,Françoise Devillard,Brigitte Assouline,Fanny Laffargue,James Lespinasse,Jean Chiesa,François Rivier,Dominique Bonneau,Béatrice Regnault,Diana Zelenika,Marc Delepine,Mark Lathrop,Damien Sanlaville,Caroline Schluth-Bolard,Patrick Edery,Laurence Perrin,Anne Claude Tabet,Michael J. Schmeisser,Tobias M. Boeckers,Mary Coleman,Daisuke Sato,Peter Szatmari,Stephen W. Scherer,Guy A. Rouleau,Catalina Betancur,Marion Leboyer,Christopher Gillberg,Richard Delorme,Thomas Bourgeron +59 more
TL;DR: Mutations of the SHANK genes were detected in the whole spectrum of autism with a gradient of severity in cognitive impairment and the clinical relevance of these genes remains to be ascertained.
Increased exonic de novo mutation rate in individuals with schizophrenia
Simon Girard,Julie Gauthier,Anne Noreau,Lan Xiong,Sirui Zhou,Loubna Jouan,Alexandre Dionne-Laporte,Dan Spiegelman,Edouard Henrion,Ousmane Diallo,Pascale Thibodeau,Isabelle Bachand,Jessie Y.J. Bao,Amy Hin Yan Tong,Chi-Ho Lin,Bruno Millet,Bruno Millet,Nematollah Jaafari,Nematollah Jaafari,Ridha Joober,Patrick A. Dion,Si Lok,Marie-Odile Krebs,Guy A. Rouleau,Guy A. Rouleau +24 more
TL;DR: This study sequenced the exomes of 14 schizophrenia probands and their parents to identify 15 de novo mutations (DNMs) in eight probands, which is significantly more than expected considering the previously reported DNM rate.
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Mutations in SYNGAP1 in autosomal nonsyndromic mental retardation.
Fadi F. Hamdan,Julie Gauthier,Dan Spiegelman,Anne Noreau,Yan Yang,Stéphanie Pellerin,Sylvia Dobrzeniecka,Mélanie Côté,Elizabeth Perreau-Linck,Lionel Carmant,Guy D'Anjou,Eric Fombonne,Anjené M. Addington,Judith L. Rapoport,Lynn E. DeLisi,Marie-Odile Krebs,Fayçal Mouaffak,Ridha Joober,Laurent Mottron,Pierre Drapeau,Claude Marineau,Ronald G. Lafrenière,Jean-Claude Lacaille,Guy A. Rouleau,Jacques L. Michaud +24 more
TL;DR: The results indicate that SYNGAP1 disruption is a cause of autosomal dominant nonsyndromic mental retardation.
Excess of De Novo Deleterious Mutations in Genes Associated with Glutamatergic Systems in Nonsyndromic Intellectual Disability
Fadi F. Hamdan,Julie Gauthier,Yoichi Araki,Da Ting Lin,Yuhki Yoshizawa,Kyohei Higashi,A-Reum Park,Dan Spiegelman,Sylvia Dobrzeniecka,Amélie Piton,Hideyuki Tomitori,Hussein Daoud,Christine Massicotte,Edouard Henrion,Ousmane Diallo,Masoud Shekarabi,Claude Marineau,Michael Shevell,Bruno Maranda,Grant A. Mitchell,Amélie Nadeau,Guy D'Anjou,Michel Vanasse,Myriam Srour,Ronald G. Lafrenière,Pierre Drapeau,Jean-Claude Lacaille,Eunjoon Kim,Jae-Ran Lee,Kazuei Igarashi,Richard L. Huganir,Guy A. Rouleau,Jacques L. Michaud +32 more
TL;DR: In this article, de novo mutations (DNMs) in synaptic genes explain an important fraction of sporadic nonsyndromic intellectual disability (NSID) cases, finding 11 DNMs, including ten potentially deleterious mutations (three nonsense, two splicing, one frameshift, four missense) and one neutral mutation (silent).
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