Concepedia

Véronique Bolduc

VB

Statistics

Publications

22

Citations

2K

H-Index

18

Active since

2005

Affiliations

National Institute of Neurological Disorders and Stroke(Current)

National Institutes of Health

University College London

Broad Institute

Inserm

Véronique Bolduc is an author at National Institute of Neurological Disorders and Stroke specializing in genetics, molecular genetics, and life sciences.

ORCID

Publications per year

2005–2024

22

Publications

22

Improving genetic diagnosis in Mendelian disease with transcriptome sequencing

Beryl B. Cummings, Jamie L. Marshall, Taru Tukiainen et al. · Science Translational Medicine · 2017 · 806 citations · Full text

, , +17

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 · 282 citations · Full text

, , +16

Improving genetic diagnosis in Mendelian disease with transcriptome sequencing

Beryl B. Cummings, Jamie L. Marshall, Taru Tukiainen et al. · bioRxiv (Cold Spring Harbor Laboratory) · 2016 · 150 citations · Full text

, , +17

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 · 120 citations · Full text

, , +10

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 · 66 citations · Full text

, , +17

1–5 of 22