Author

Mathieu Desmeules

Université de Sherbrooke

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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Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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Research Focus:differential expression· 1 Organism:human· 1 Approach:statistical model· 1 Research Focus:variant calling· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Claudia MoreauiD· 1 shared Cynthia GagnoniD· 1 shared Élisa Michel· 1 shared J.-C. TardifiD· 1 shared Jean MathieuiD· 1 shared Jean‐Denis BrissoniD· 1 shared Josianne Leblanc· 1 shared Laurence GagnoniD· 1 shared

Activity by Year

2025-2025 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Claudia MoreauORCID

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1 paper

Recent·Most cited

Rare diseases load through the study of a regional population

Élisa Michel, Claudia Moreau, Laurence Gagnon, Mylène Gagnon, Josianne Leblanc, J.-C. Tardif, Lysanne Girard, Jean Mathieu, Cynthia Gagnon, Mathieu Desmeules, Jean‐Denis Brisson, Luigi Bouchard, Simon Girard

This study identifies rare genetic variants in a Quebec population with a founder effect, validates known variants, discovers new ones, and highlights their clinical relevance.

PLoS Genetics · Oct 16, 2025Peer-reviewedGenetic & Genomic Medicine