List of works - Cynthia V Bourassa

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

scientific article published on 01 August 2015

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

article

C9orf72 repeat expansions in rapid eye movement sleep behaviour disorder

scientific article published on 4 November 2014

De novo variants in sporadic cases of childhood onset schizophrenia

scientific article published on 28 October 2015

Evolution of a Human-Specific Tandem Repeat Associated with ALS

scientific article published on 26 July 2020

Exome sequencing identifies FUS mutations as a cause of essential tremor

scientific article

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

article

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

scholarly article by Jiao Li et al published July 2018 in Movement Disorders

Genetic and epidemiological characterization of restless legs syndrome in Québec

scientific article published on 30 October 2019

Genetic architecture and adaptations of Nunavik Inuit

scientific article published on 22 July 2019

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

scientific article

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

scientific article published on 12 March 2018

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

scientific article published on 23 March 2020

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

scientific article published on 20 October 2016

Increased missense mutation burden of Fatty Acid metabolism related genes in nunavik inuit population

scientific article published on 26 May 2015

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

scientific article published on 22 November 2019

LINGO1 variants in the French-Canadian population

scientific article (publication date: 11 January 2011)

Mutation burden of rare variants in schizophrenia candidate genes

scientific article published on 3 June 2015

No rare deleterious variants from STK32B, PPARGC1A, and CTNNA3 are associated with essential tremor

scientific article published on 19 October 2017

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

scientific article

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

scientific article published on 30 September 2016

SYNE1 mutations in autosomal recessive cerebellar ataxia

scientific article

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

scientific article published on 3 February 2017

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

scientific article published on 06 April 2016

VAMP1 mutation causes dominant hereditary spastic ataxia in Newfoundland families

scientific article

List of works by Cynthia V Bourassa

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

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

C9orf72 repeat expansions in rapid eye movement sleep behaviour disorder

De novo variants in sporadic cases of childhood onset schizophrenia

Evolution of a Human-Specific Tandem Repeat Associated with ALS

Exome sequencing identifies FUS mutations as a cause of essential tremor

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

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

Genetic and epidemiological characterization of restless legs syndrome in Québec

Genetic architecture and adaptations of Nunavik Inuit

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

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

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

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

Increased missense mutation burden of Fatty Acid metabolism related genes in nunavik inuit population

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

LINGO1 variants in the French-Canadian population

Mutation burden of rare variants in schizophrenia candidate genes

No rare deleterious variants from STK32B, PPARGC1A, and CTNNA3 are associated with essential tremor

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

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

SYNE1 mutations in autosomal recessive cerebellar ataxia

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

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

VAMP1 mutation causes dominant hereditary spastic ataxia in Newfoundland families