scispace - formally typeset
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.

Papers
More filters
Journal Article

Monogenic epilepsies in humans: molecular mechanisms and relevance for the study of intractable epilepsy.

Patrick Cossette, +1 more
- 01 Jan 2006 - 
Book ChapterDOI

The Mutational Spectrum of Neurodevelopmental Disorders

Nancy D. Merner, +4 more
Journal ArticleDOI

CYP7B1 mutations in French-Canadian hereditary spastic paraplegia subjects.

Anne Noreau, +8 more
- 01 Jan 2012 - 
TL;DR: The main goal of this study was to determine if CYP7B1 mutations could explain disease in some of the HSP patients, and whether mutations in this gene are also known to cause liver failure in children.
Posted ContentDOI

Regional collapsing of rare variation implicates specific genic regions in ALS

Sahar Gelfman, +18 more
- 24 Jul 2018 - 
TL;DR: Two collapsing strategies are developed, one focuses rare variation collapsing on homology-based protein domains as the unit for collapsing and another gene-level approach that leverages existing evidence of purifying selection against missense variation on said domains.
Journal ArticleDOI

Whole-Exome Sequencing in Congenital Hypothyroidism Due to Thyroid Dysgenesis

Stéphanie Larrivée-Vanier, +9 more
- 10 Mar 2022 - 
TL;DR: No new predisposing genes were identified following an unbiased analysis of WES data in a well-characterized NS-CHTD cohort, confirming the complex etiology of this disease.