Author

Cynthia V. Bourassa

Montreal Neurological Institute and Hospital

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

Biology Disciplines

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Genetics· 3

Signature Assays, Organisms & Methods

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Organism:human· 3 Approach:statistical model· 3 Research Focus:GWAS / association mapping· 2 Assay:bulk RNA-seq· 1 Research Focus:differential expression· 1 Research Focus:fine-mapping· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Calwing LiaoiD· 3 shared Fulya AkçimeniD· 3 shared Guy Armand RouleauiD· 3 shared Patrick A. DioniD· 3 shared Hélène Catoire· 2 shared Jay P. RossiD· 2 shared Bernard BraisiD· 1 shared Daniel L. RochefortiD· 1 shared

Activity by Year

2019-2020 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 37 mutual co-author links

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3 shared papersGenetics

Calwing LiaoORCID

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3 papers

Recent·Most cited

GeneticsAgingPeer-reviewedMar 23, 2020

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

Fulya Akçimen, Sandra Martins, Calwing Liao…·Guy Armand Rouleau

This study identifies nine genetic loci associated with age at onset in Machado-Joseph disease, suggesting roles for DNA repair and synaptic pathways in disease progression.

28 citations

humanwhole-exome sequencing

𝕏 PostBluesky

GeneticsFrontiers in GeneticsPeer-reviewedNov 22, 2019

Investigation of the pathogenic RFC1 repeat expansion in a Canadian and a Brazilian ataxia cohort: identification of novel conformations

Fulya Akçimen, Jay P. Ross, Cynthia V. Bourassa…·Guy Armand Rouleau

The paper investigates RFC1 repeat expansions in ataxia cohorts, identifying novel repeat conformations and their potential pathogenicity.

74 citationstop 3%

humanstatistical model

𝕏 PostBluesky

GeneticsbioRxivPreprintOct 21, 2019

Increased expression of genetically-regulated FLT3 implicated in Tourette Syndrome

Calwing Liao, Veikko Vuokila, Hélène Catoire…·Guy Armand Rouleau

The paper identifies increased FLT3 expression in the dorsolateral prefrontal cortex as associated with Tourette Syndrome through transcriptome-wide association study.

2 citations

humanbulk RNA-seq

𝕏 PostBluesky