Claire Redin

A Mitochondrial Pyruvate Carrier Required for Pyruvate Uptake in Yeast, <i>Drosophila</i> , and Humans

Daniel K. Bricker, Eric B. Taylor, John C. Schell et al. · Science · 2012 · 863 citations · Full text

Genetics, Molecular Genetics, Mitochondrial Biology +17

The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies

Claire Redin, Harrison Brand, Ryan L. Collins et al. · Nature Genetics · 2016 · 346 citations · Full text

Human Congenital Anomalies, Developmental Anomaly, Developmental Biology +8

Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing

Claire Redin, Bénédicte Gérard, Julia Lauer et al. · Journal of Medical Genetics · 2014 · 270 citations · Full text

XLID-Causing Mutations and Associated Genes Challenged in Light of Data From Large-Scale Human Exome Sequencing

Amélie Piton, Claire Redin, Jean‐Louis Mandel · The American Journal of Human Genetics · 2013 · 251 citations · Full text

Engineering, Medicine, Genetics +9

A Global Effort to Define the Human Genetics of Protective Immunity to SARS-CoV-2 Infection

Jean‐Laurent Casanova, Helen C. Su, Laurent Abel et al. · Cell · 2020 · 231 citations · Full text