Sandra Chantot‐Bastaraud

Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders

Markus Wolff, Katrine M. Johannesen, Ulrike B. S. Hedrich et al. · Brain · 2017 · 575 citations · Full text

Medicine, Genetics, Neurology +17

A prospective study validating a clinical scoring system and demonstrating phenotypical-genotypical correlations in Silver-Russell syndrome

Salah Azzi, Jennifer Ben Salem, Nathalie Thibaud et al. · Journal of Medical Genetics · 2015 · 218 citations · Full text

Life Sciences, Genetics, Pediatrics +17

Mutations in DNAH17, Encoding a Sperm-Specific Axonemal Outer Dynein Arm Heavy Chain, Cause Isolated Male Infertility Due to Asthenozoospermia

Marjorie Whitfield, Lucie Thomas, Émilie Béquignon et al. · The American Journal of Human Genetics · 2019 · 195 citations · Full text

Medicine, Genetics, Molecular Genetics +10

Screening for Genomic Rearrangements and Methylation Abnormalities of the 15q11-q13 Region in Autism Spectrum Disorders

Christel Depienne, Daniel Moreno‐De‐Luca, Delphine Héron et al. · Biological Psychiatry · 2009 · 161 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3

Chiara Olcese, Mitali Patel, Amelia Shoemark et al. · Nature Communications · 2017 · 151 citations · Full text

Life Sciences, Genetics, Molecular Biology +16