Séverine Audebert‐Bellanger

Type 0 Spinal Muscular Atrophy: Further Delineation of Prenatal and Postnatal Features in 16 Patients

Sarah Grotto, Jean‐Marie Cuisset, Stéphane Marret et al. · Journal of Neuromuscular Diseases · 2016 · 90 citations

Mutations of the Imprinted<i>CDKN1C</i>Gene as a Cause of the Overgrowth Beckwith-Wiedemann Syndrome: Clinical Spectrum and Functional Characterization

Frédéric Brioude, Irène Netchine, Françoise Praz et al. · Human Mutation · 2015 · 81 citations

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

Familial breast cancer and DNA repair genes: Insights into known and novel susceptibility genes from the GENESIS study, and implications for multigene panel testing

Elodie Girard, Séverine Eon‐Marchais, Robert Olaso et al. · International Journal of Cancer · 2018 · 75 citations · Full text

Sex chromosome aneuploidies and copy-number variants: a further explanation for neurodevelopmental prognosis variability?

Jessica Le Gall, Mathilde Nizon, Olivier Pichon et al. · European Journal of Human Genetics · 2017 · 54 citations · Full text

Developmental Anomaly, Sex Chromosome Aneuploidies, Developmental Biology +12