Sylvia Redon

Autosomal dominant polycystic kidney disease: Comprehensive mutation analysis of PKD1 and PKD2 in 700 unrelated patients

Marie‐Pierre Audrézet, Émilie Cornec-Le Gall, Jian‐Min Chen et al. · Human Mutation · 2012 · 175 citations

Adpkd Pathogenic Mutations, Urology, Renal Disease +14

Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior

Holly K. Harris, Tojo Nakayama, Jenny Lai et al. · Genetics in Medicine · 2021 · 79 citations · Full text

Neurodevelopmental Disorders, Syndromic Autism, Medicine +13

Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability

Benjamin Cogné, Sophie Ehresmann, Éliane Beauregard‐Lacroix et al. · The American Journal of Human Genetics · 2019 · 51 citations · Full text

Neurodevelopmental Disorders, Chromatin, Syndromic Autism +11

A small de novo 16q24.1 duplication in a woman with severe clinical features

Sylvia Redon, Caroline Bénech, Séverine Audebert‐Bellanger et al. · European Journal of Medical Genetics · 2013 · 42 citations · Full text

Genetic Disorder, Medicine, Genetics +6

Chromosomal microarray analysis in fetuses with an isolated congenital heart defect: A retrospective, nationwide, multicenter study in France

Marguerite Hureaux, Sarah Guterman, Bérénice Herve et al. · Prenatal Diagnosis · 2019 · 42 citations