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
Association of NPAS3 exonic variation with schizophrenia.
TL;DR: The identification of potentially defective NPAS3 variants supports recent studies that implicate perturbations inNPAS3 pathways in impaired neurogenesis and psychosis.
Journal ArticleDOI
Global characterization of copy number variants in epilepsy patients from whole genome sequencing.
Jean Monlong,Simon Girard,Simon Girard,Simon Girard,Caroline Meloche,Maxime Cadieux-Dion,Maxime Cadieux-Dion,Danielle M. Andrade,Ron G. Lafreniere,Micheline Gravel,Dan Spiegelman,Alexandre Dionne-Laporte,Cyrus Boelman,Fadi F. Hamdan,Jacques L. Michaud,Guy A. Rouleau,Berge A. Minassian,Guillaume Bourque,Patrick Cossette +18 more
TL;DR: This genome-wide survey of copy number variants of epilepsy patients revealed an enrichment of rare exonic events in epilepsy patients, especially in genes with predicted loss-of-function intolerance, suggesting that comprehensive sequence-based profiling of CNVs could help explain a larger fraction of epilepsy cases.
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Detection of pathogenic copy number variants in children with idiopathic intellectual disability using 500 K SNP array genomic hybridization.
Jan M. Friedman,Jan M. Friedman,Shelin Adam,Laura Arbour,Linlea Armstrong,Agnes Baross,Patricia Birch,Cornelius F. Boerkoel,Cornelius F. Boerkoel,Susanna Chan,David Chai,Allen Delaney,Stephane Flibotte,William T. Gibson,William T. Gibson,Sylvie Langlois,Emmanuelle Lemyre,H. Irene Li,Patrick MacLeod,Joan Mathers,Jacques L. Michaud,Barbara McGillivray,Millan S. Patel,Hong Qian,Guy A. Rouleau,Margot I. Van Allen,Siu Li Yong,Farah R. Zahir,Patrice Eydoux,Marco A. Marra,Marco A. Marra +30 more
TL;DR: 500 K Affymetrix GeneChip®, 500 K array genomic hybridization detected pathogenic genomic imbalance in 10 of 10 patients with idiopathic developmental disability in whom 100 K GeneChip® array genomic hybrids had found genomic imbalance, and 16 of 100 patients who had not previously been tested.
Journal ArticleDOI
PABPN1 polyalanine tract deletion and long expansions modify its aggregation pattern and expression.
Arnaud F. Klein,Mitsuru Ebihara,Christine Alexander,Marie-Josée Dicaire,A. Marie-Josée Sasseville,Yves Langelier,Guy A. Rouleau,Bernard Brais +7 more
TL;DR: First experimental evidence that there may be a relative loss of function in OPMD by decreasing the availability of PABPN1 through an INI-independent mechanism is presented.
Journal ArticleDOI
PABP2 polyalanine tract expansion causes intranuclear inclusions in oculopharyngeal muscular dystrophy.
Vijayalakshmi Shanmugam,Patrick A. Dion,Daniel Rochefort,Janet Laganière,Bernard Brais,Guy A. Rouleau +5 more
TL;DR: It is found that expression of mutated PABP2 protein is sufficient for its accumulation as intranuclear inclusions in muscle fibers.