Audrey Putoux

KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes

Audrey Putoux, Sophie Thomas, Karlien L. M. Coene et al. · Nature Genetics · 2011 · 239 citations · Full text

Developmental Anomaly, Mendelian Disorder, Kif7 Mutations +5

Novel comprehensive diagnostic strategy in Pitt-Hopkins syndrome: Clinical score and further delineation of the TCF4 mutational spectrum

Sandra Whalen, Delphine Héron, Thierry Gaillon et al. · Human Mutation · 2011 · 128 citations

Missense Mutations, Clinical Diagnosis Score, Genetics +19

Opposite Modulation of RAC1 by Mutations in TRIO Is Associated with Distinct, Domain-Specific Neurodevelopmental Disorders

Sónia Barbosa, Stephanie Greville‐Heygate, Maxime Bonnet et al. · The American Journal of Human Genetics · 2020 · 105 citations · Full text

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

A new intellectual disability syndrome caused by <i>CTNNB1</i> haploinsufficiency

Estelle Dubruc, Audrey Putoux, Audrey Labalme et al. · American Journal of Medical Genetics Part A · 2014 · 64 citations