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 · 239 citations · Full text

Chromatin, Spectral Karyotyping, Optical Genome Mapping +5

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 · 135 citations · Full text

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

Physiology, Episodic Apnea, Congenital Myasthenic Syndrome +1

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

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 · 73 citations · Full text

Obesity, Metabolic Syndrome, Developmental Biology +7