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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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DNA hypomethylation of Synapsin II CpG islands associates with increased gene expression in bipolar disorder and major depression

TL;DR: These findings contribute to previous work showing dysregulation of Synapsins, particularly SYN2, in mood disorders and improve the understanding of the regulatory mechanisms that precipitate these changes likely leading to the BD or MDD phenotype.
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Linkage to the CCM2 locus and genetic heterogeneity in familial cerebral cavernous malformation.

TL;DR: This study is the first one to replicate linkage at the CCM2 locus and provides a fifth family identified as such, and supports the concept of genetic heterogeneity in CCM, identifying four other families that showed no mutations in theCCM1 gene.
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Refined localization of the gene for Clouston syndrome (hidrotic ectodermal dysplasia) in a large French family

TL;DR: To define the critical region for HED, detailed haplotypes were constructed with new pericentromeric polymorphic markers and it was confirmed that the HED locus maps centromeric to D13S1832.1.
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Identification of a homozygous splice site mutation in the dynein axonemal light chain 4 gene on 22q13.1 in a large consanguineous family from Pakistan with congenital mirror movement disorder.

TL;DR: A large consanguineous Pakistani family with 11 cases of congenital MRMV disorder reported across five generations, with autosomal recessive inheritance likely is described, and it is suggested that DNAL4 plays a role in the cytoplasmic dynein complex for netrin-1-directed retrograde transport, and in commissural neurons of the corpus callosum in particular.