Fabienne Prieur

A Genome-Scale DNA Repair RNAi Screen Identifies SPG48 as a Novel Gene Associated with Hereditary Spastic Paraplegia

Mikołaj Słabicki, Mirko Theis, Dragomir B. Krastev et al. · PLoS Biology · 2010 · 194 citations · Full text

Genetics, Genomic Mechanism, Molecular Biology +19

Prevalence and spectrum of mutations in a cohort of 192 unrelated patients with hypertrophic cardiomyopathy

Gilles Millat, Patrice Bouvagnet, Philippe Chevalier et al. · European Journal of Medical Genetics · 2010 · 160 citations

Cardiomyopathy, Unrelated Patients, Cardiovascular Disease +9

A Restricted Repertoire of De Novo Mutations in ITPR1 Cause Gillespie Syndrome with Evidence for Dominant-Negative Effect

Meriel McEntagart, Kathleen A. Williamson, Jacqueline K. Rainger et al. · The American Journal of Human Genetics · 2016 · 101 citations · Full text

Genetic Analysis of ‘PAX6-Negative’ Individuals with Aniridia or Gillespie Syndrome

Morad Ansari, Jacqueline K. Rainger, Isabel M. Hanson et al. · PLoS ONE · 2016 · 83 citations · Full text

Biology, Genetic Analysis, Intragenic Pax6 Mutations +15

Whole genome paired-end sequencing elucidates functional and phenotypic consequences of balanced chromosomal rearrangement in patients with developmental disorders

Caroline Schluth‐Bolard, Flavie Diguet, Nicolas Chatron et al. · Journal of Medical Genetics · 2019 · 79 citations · Full text