Cynthia V. Bourassa

发表

Exome sequencing identifies FUS mutations as a cause of essential tremor.

G. Rouleau, J. Rivière, M. Panisset, 2012, American journal of human genetics.

Exome sequencing of sporadic childhood‐onset schizophrenia suggests the contribution of X‐linked genes in males

J. Rapoport, R. Joober, G. Rouleau, 2018, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

Genome-wide association study in essential tremor identifies three new loci

Dietrich Haubenberger, Mark Hallett, Günther Deuschl, 2016, Brain : a journal of neurology.

RNF213 Is Associated with Intracranial Aneurysms in the French-Canadian Population.

G. Rouleau, A. Dionne‐Laporte, D. Spiegelman, 2016, American journal of human genetics.

VAMP1 mutation causes dominant hereditary spastic ataxia in Newfoundland families.

M. Jog, W. Pryse-Phillips, G. Rouleau, 2012, American journal of human genetics.

LINGO1 Variants in the French-Canadian Population

G. Rouleau, J. Rivière, M. Panisset, 2011, PloS one.

Full sequencing and haplotype analysis of MAPT in Parkinson's disease and rapid eye movement sleep behavior disorder

A. Desautels, B. Boeve, T. Ferman, 2018, Movement disorders : official journal of the Movement Disorder Society.

Genetic and epidemiological characterization of restless legs syndrome in Québec.

G. Rouleau, Z. Gan-Or, P. Dion, 2020, Sleep.

SYNE1 mutations in autosomal recessive cerebellar ataxia.

A. Durr, J. Bouchard, S. Forlani, 2013, JAMA neurology.

C9orf72 Repeat Expansions in Rapid Eye Movement Sleep Behaviour Disorder

A. Desautels, R. Postuma, J. Montplaisir, 2014, Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques.

Paternal Age Explains a Major Portion of De Novo Germline Mutation Rate Variability in Healthy Individuals

R. Tremblay, M. Dubé, G. Rouleau, 2016, PloS one.

De novo variants in sporadic cases of childhood onset schizophrenia

J. Rapoport, K. Ahn, R. Joober, 2015, European Journal of Human Genetics.

Regulatory domain or CpG site variation in SLC12A5, encoding the chloride transporter KCC2, in human autism and schizophrenia

G. Rouleau, K. Kahle, P. Dion, 2015, Front. Cell. Neurosci..

Mutation Burden of Rare Variants in Schizophrenia Candidate Genes

M. Krebs, M. Dubé, R. Joober, 2015, PloS one.

Genetic architecture and adaptations of Nunavik Inuit

G. Rouleau, A. Dionne‐Laporte, D. Spiegelman, 2019, Proceedings of the National Academy of Sciences.

Increased Missense Mutation Burden of Fatty Acid Metabolism Related Genes in Nunavik Inuit Population

G. Rouleau, A. Dionne‐Laporte, D. Spiegelman, 2015, PloS one.

Transcriptome-wide association study reveals increased neuronal FLT3 expression is associated with Tourette’s syndrome

G. Rouleau, P. Dion, H. Catoire, 2022, Communications Biology.

Evolution of a Human-Specific Tandem Repeat Associated with ALS.

E. Eichler, M. Kay, A. Gitler, 2020, American journal of human genetics.

Genome-wide association analysis identifies new candidate risk loci for familial intracranial aneurysm in the French-Canadian population

T. Foroud, G. Rouleau, A. Dionne‐Laporte, 2018, Scientific Reports.

A New ELOVL4 Mutation in a Case of Spinocerebellar Ataxia With Erythrokeratodermia.

G. Rouleau, S. Raskin, P. Dion, 2015, JAMA neurology.

The role of the melanoma gene MC1R in Parkinson disease and REM sleep behavior disorder

A. Desautels, R. Postuma, J. Montplaisir, 2016, Neurobiology of Aging.

Absence of Mutation Enrichment for Genes Phylogenetically Conserved in the Olivocerebellar Motor Circuitry in a Cohort of Canadian Essential Tremor Cases

A. Rajput, G. Rouleau, M. Panisset, 2018, Molecular Neurobiology.

Teneurin transmembrane protein 4 is not a cause for essential tremor in a Canadian population

A. Rajput, G. Rouleau, M. Panisset, 2017, Movement disorders : official journal of the Movement Disorder Society.

Increased expression of genetically-regulated FLT3 implicated in Tourette’s Syndrome

G. Rouleau, P. Dion, H. Catoire, 2019, bioRxiv.

Genome-wide association analysis identifies new candidate risk loci for familial intracranial aneurysm in the French-Canadian population

T. Foroud, G. Rouleau, A. Dionne‐Laporte, 2018, Scientific Reports.

Genetically encoded impairment of neuronal KCC2 cotransporter function in human idiopathic generalized epilepsy

P. Awadalla, S. Moss, G. Rouleau, 2014, EMBO reports.

Do variants in the coding regions of FOXP2, a gene implicated in speech disorder, confer a risk for congenital amusia?

Michael W. Weiss, I. Peretz, M. Dubé, 2022, Annals of the New York Academy of Sciences.

Genome-wide association study identifies genetic factors that modify age at onset in Machado-Joseph disease

Í. Lopes-Cendes, G. Rouleau, O. Riess, 2019, bioRxiv.

Investigation of the RFC1 Repeat Expansion in a Canadian and a Brazilian Ataxia Cohort: Identification of Novel Conformations

B. Brais, G. Rouleau, J. Pedroso, 2019, Front. Genet..