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
Intrafamilial correlation of clinical manifestations in neurofibromatosis 2 (NF2)
Yinshan Zhao,R.A. Kumar,Michael E. Baser,D G R Evans,Andrew J Wallace,L. Kluwe,Victor-F. Mautner,Dilys M. Parry,Guy A. Rouleau,Harry Joe,Jan M. Friedman +10 more
TL;DR: Survival techniques are incorporated into a random effects model so that it can be used to estimate intrafamilial correlations in continuous variables with right censoring, such as age at onset, and a negative‐binomial gamma mixture model is described to determine intrafam familial correlations of discrete data.
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Parent-child exome sequencing identifies a de novo truncating mutation in TCF4 in non-syndromic intellectual disability.
Fadi F. Hamdan,Hussein Daoud,Lysanne Patry,Alexandre Dionne-Laporte,Dan Spiegelman,Sylvia Dobrzeniecka,Guy A. Rouleau,Jacques L. Michaud +7 more
TL;DR: A de novo nonsense mutation in TCF4 is reported in a patient with mild-to-moderate non-syndromic ID (NSID) without the typical features of PTHS.
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Molecular characterization of germline NF2 gene rearrangements.
Patricia Legoix,Hera Der Sarkissian,Lucien Cazes,Sophie Giraud,Frederic Sor,Guy A. Rouleau,Gilbert M. Lenoir,Gilles Thomas,Jessica Zucman-Rossi +8 more
TL;DR: The variability in position of the deletions and the observation of a new chromosomal rearrangement in the NF2 gene underscore the importance of FISH analysis in the molecular diagnosis of NF2.
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Sequencing of the GBA coactivator, Saposin C, in Parkinson disease.
Bouchra Ouled Amar Bencheikh,Bouchra Ouled Amar Bencheikh,Etienne Leveille,Jennifer A. Ruskey,Jennifer A. Ruskey,Dan Spiegelman,Christopher Liong,Edward A. Fon,Edward A. Fon,Guy A. Rouleau,Guy A. Rouleau,Yves Dauvilliers,Nicolas Dupré,Roy N. Alcalay,Ziv Gan-Or +14 more
TL;DR: No statistically significant association after correction for multiple comparisons was found between SapC mutations in PD patients and controls, and larger studies are necessary to examine the role of very rare SapC variants in PD.
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Cloning of six new genes with zinc finger motifs mapping to short and long arms of human acrocentric chromosome 22 (p and q11.2)
Muriel Aubry,Claude Marineau,Fang Rong Zhang,Laila Zahed,Denise A. Figlewicz,Olivier Delattre,Gilles Thomas,Pieter J. de Jong,Jean-Pierre Julien,Jean-Pierre Julien,Guy A. Rouleau +10 more
TL;DR: Four zinc finger genes that map to 22q11.2 are within the cat eye and DiGeorge syndrome regions and thus provide us with potential candidate genes for these developmental malformations.