Céline Pebrel‐Richard

Optical genome mapping enables constitutional chromosomal aberration detection

Tuomo Mantere, Kornelia Neveling, Céline Pebrel‐Richard et al. · The American Journal of Human Genetics · 2021 · 253 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

ACTB Loss-of-Function Mutations Result in a Pleiotropic Developmental Disorder

Sara Cuvertino, Helen M. Stuart, Kate Chandler et al. · The American Journal of Human Genetics · 2017 · 141 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Impaired Presynaptic High-Affinity Choline Transporter Causes a Congenital Myasthenic Syndrome with Episodic Apnea

Stéphanie Bauché, S O’Regan, Yoshiteru Azuma et al. · The American Journal of Human Genetics · 2016 · 91 citations · Full text

Life Sciences, Neuroscience, Physiology +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 · 82 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Small 6q16.1 Deletions Encompassing POU3F2 Cause Susceptibility to Obesity and Variable Developmental Delay with Intellectual Disability

Paul R. Kasher, Katherine E. Schertz, Megan Thomas et al. · The American Journal of Human Genetics · 2016 · 74 citations · Full text

Life Sciences, Genetics, Molecular Genetics +12