G
Guy A. Rouleau
Researcher at Montreal Neurological Institute and Hospital
Publications - 935
Citations - 75050
Guy A. Rouleau is an academic researcher from Montreal Neurological Institute and Hospital. The author has contributed to research in topics: Gene & Genome-wide association study. The author has an hindex of 129, co-authored 884 publications receiving 65892 citations. Previous affiliations of Guy A. Rouleau include Utrecht University & University of Helsinki.
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Journal ArticleDOI
Mutations in C5ORF42 Cause Joubert Syndrome in the French Canadian Population
Myriam Srour,Jeremy Schwartzentruber,Fadi F. Hamdan,Luis H. Ospina,Lysanne Patry,Damian Labuda,Christine Massicotte,Sylvia Dobrzeniecka,Jose-Mario Capo-Chichi,Simon Papillon-Cavanagh,Mark E. Samuels,Kym M. Boycott,Michael Shevell,Rachel Laframboise,Valérie Désilets,Bruno Maranda,Guy A. Rouleau,Jacek Majewski,Jacques L. Michaud +18 more
TL;DR: The data suggest that mutations in C5ORF42 explain a large portion of French Canadian individuals with JBTS, which is an autosomal-recessive disorder characterized by a distinctive mid-hindbrain malformation, developmental delay with hypotonia, ocular-motor apraxia, and breathing abnormalities.
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Ancestral Origins of the Machado-Joseph Disease Mutation: A Worldwide Haplotype Study
Claudia Gaspar,Claudia Gaspar,Iscia Lopes-Cendes,S. Hayes,Jun Goto,K. Arvidsson,Ana I. Dias,Ana I. Dias,Isabel Silveira,Isabel Silveira,Patrícia Maciel,Patrícia Maciel,Paula Coutinho,Manuela Lima,Y.-X. Zhou,Bing-Wen Soong,Mitsunori Watanabe,Paola Giunti,Giovanni Stevanin,Olaf Riess,Hidenao Sasaki,Mingli Hsieh,Garth A. Nicholson,Ewout R. Brunt,J.J. Higgins,M. Lauritzen,Lisbeth Tranebjærg,Victor Volpini,Nicholas W. Wood,Laura P.W. Ranum,Shoji Tsuji,Alexis Brice,Jorge Sequeiros,Guy A. Rouleau +33 more
TL;DR: The findings suggest two introductions of the mutation into the Portuguese population through linkage-disequilibrium analysis of tightly linked polymorphisms and by haplotype comparison, in 249 families from different countries.
Journal ArticleDOI
Deficiency of Asparagine Synthetase Causes Congenital Microcephaly and a Progressive Form of Encephalopathy
Elizabeth K. Ruzzo,Jose-Mario Capo-Chichi,Bruria Ben-Zeev,Bruria Ben-Zeev,David Chitayat,Hanqian Mao,Andrea L. Pappas,Yuki Hitomi,Yi-Fan Lu,Xiaodi Yao,Fadi F. Hamdan,Kimberly Pelak,Haike Reznik-Wolf,Haike Reznik-Wolf,Ifat Bar-Joseph,Ifat Bar-Joseph,Danit Oz-Levi,Dorit Lev,Dorit Lev,Tally Lerman-Sagie,Tally Lerman-Sagie,Esther Leshinsky-Silver,Esther Leshinsky-Silver,Yair Anikster,Yair Anikster,Edna Ben-Asher,Tsviya Olender,Laurence Colleaux,Jean-Claude Décarie,Susan Blaser,Brenda Banwell,Rasesh B. Joshi,Xiao-Ping He,Lysanne Patry,Rachel Silver,Sylvia Dobrzeniecka,Mohammad Safiqul Islam,Abul Hasnat,Mark E. Samuels,Dipendra K. Aryal,Ramona M. Rodriguiz,Yong-hui Jiang,William C. Wetsel,James O. McNamara,Guy A. Rouleau,Guy A. Rouleau,Debra L. Silver,Doron Lancet,Elon Pras,Grant A. Mitchell,Jacques L. Michaud,David Goldstein +51 more
TL;DR: It is shown that recessive mutations in the ASNS gene are responsible for this syndrome and that asparagine synthesis is essential for the development and function of the brain but not for that of other organs.
Journal ArticleDOI
Screening for germ-line mutations in the NF2 gene.
P. Merel,Khê Hoang-Xuan,Marc Sanson,E. K. Bijlsma,Guy A. Rouleau,Pierre Laurent-Puig,Stephan Pulst,Michael E. Baser,Gilbert M. Lenoir,Jean Marc Sterkers,Jacques Philippon,F. Resche,Victor F. Mautner,Georges Fischer,Theo J. M. Hulsebos,Alain Aurias,Olivier Delattre,Gilles Thomas +17 more
TL;DR: A screening method for the detection of point mutations in NF2 which takes advantage of denaturing gradient gel electrophoresis (DGGE) and efficiently screens 95% of the coding sequence and 90% of intron/exon junctions.
Journal ArticleDOI
Association of Polygenic Score for Schizophrenia and HLA Antigen and Inflammation Genes With Response to Lithium in Bipolar Affective Disorder: A Genome-Wide Association Study.
Azmeraw T. Amare,Klaus Oliver Schubert,Klaus Oliver Schubert,Liping Hou,Scott R. Clark,Sergi Papiol,Urs Heilbronner,Urs Heilbronner,Franziska Degenhardt,Fasil Tekola-Ayele,Yi-Hsiang Hsu,Yi-Hsiang Hsu,Tatyana Shekhtman,Mazda Adli,Nirmala Akula,Kazufumi Akiyama,Raffaella Ardau,Bárbara Arias,Jean-Michel Aubry,Lena Backlund,Abesh Kumar Bhattacharjee,Frank Bellivier,Antonio Benabarre,Susanne Bengesser,Joanna M. Biernacka,Armin Birner,Clara Brichant-Petitjean,Pablo Cervantes,Hsi-Chung Chen,Caterina Chillotti,Sven Cichon,Sven Cichon,Cristiana Cruceanu,Piotr M. Czerski,Nina Dalkner,Alexandre Dayer,Maria Del Zompo,J. Raymond DePaulo,Bruno Etain,Peter Falkai,Andreas J. Forstner,Andreas J. Forstner,Andreas J. Forstner,Louise Frisén,Mark A. Frye,Janice M. Fullerton,Janice M. Fullerton,Sébastien Gard,Julie Garnham,Fernando S. Goes,Maria Grigoroiu-Serbanescu,Paul Grof,Ryota Hashimoto,Joanna Hauser,Stefan Herms,Stefan Herms,Per Hoffmann,Per Hoffmann,Andrea Hofmann,Stéphane Jamain,Esther Jiménez,Jean-Pierre Kahn,Layla Kassem,Po-Hsiu Kuo,Tadafumi Kato,John R. Kelsoe,Sarah Kittel-Schneider,Sebastian Kliwicki,Barbara König,Ichiro Kusumi,Gonzalo Laje,Mikael Landén,Mikael Landén,Catharina Lavebratt,Marion Leboyer,Susan G. Leckband,Alfonso Tortorella,Mirko Manchia,Mirko Manchia,Lina Martinsson,Michael McCarthy,Michael McCarthy,Susan L. McElroy,Francesc Colom,Marina Mitjans,Marina Mitjans,Francis M. Mondimore,Palmiero Monteleone,Palmiero Monteleone,Caroline M. Nievergelt,Markus M. Nöthen,Tomas Novak,Claire O'Donovan,Norio Ozaki,Urban Ösby,Andrea Pfennig,James B. Potash,Andreas Reif,Eva Z. Reininghaus,Guy A. Rouleau,Janusz K. Rybakowski,Martin Schalling,Peter R. Schofield,Peter R. Schofield,Barbara W. Schweizer,Giovanni Severino,Paul D. Shilling,Katzutaka Shimoda,Christian Simhandl,Claire Slaney,Alessio Squassina,Thomas Stamm,Pavla Stopkova,Mario Maj,Gustavo Turecki,Eduard Vieta,Julia Volkert,Stephanie H. Witt,Adam Wright,Peter P. Zandi,Philip B. Mitchell,Michael Bauer,Martin Alda,Marcella Rietschel,Francis J. McMahon,Thomas G. Schulze,Bernhard T. Baune +126 more
TL;DR: Evidence is provided for a negative association between high genetic loading for SCZ and poor response to lithium in patients with BPAD, suggesting the potential for translational research aimed at personalized prescribing of lithium.