Véronique Bolduc

Improving genetic diagnosis in Mendelian disease with transcriptome sequencing

Beryl B. Cummings, Jamie L. Marshall, Taru Tukiainen et al. · Science Translational Medicine · 2017 · 767 citations · Full text

Recessive Mutations in the Putative Calcium-Activated Chloride Channel Anoctamin 5 Cause Proximal LGMD2L and Distal MMD3 Muscular Dystrophies

Véronique Bolduc, Gareth Marlow, Kym M. Boycott et al. · The American Journal of Human Genetics · 2010 · 280 citations · Full text

Channelopathies, Molecular Physiology, Cause Proximal Lgmd2l +8

Improving genetic diagnosis in Mendelian disease with transcriptome sequencing

Beryl B. Cummings, Jamie L. Marshall, Taru Tukiainen et al. · 2016 · 150 citations · Full text

Genetics, Pathology, Disease Gene Identification +16

No evidence that skewing of X chromosome inactivation patterns is transmitted to offspring in humans

Véronique Bolduc, Pierre Chagnon, Sylvie Provost et al. · Journal of Clinical Investigation · 2007 · 118 citations · Full text

Cytogenetics, Genetics, Genetic Epidemiology +17

A recurrent COL6A1 pseudoexon insertion causes muscular dystrophy and is effectively targeted by splice-correction therapies

Véronique Bolduc, A. Reghan Foley, Herimela Solomon-Degefa et al. · JCI Insight · 2019 · 64 citations · Full text