Sébastien Moutton

Autism and developmental disability caused by <i>KCNQ3</i> gain‐of‐function variants

Tristan T. Sands, Francesco Miceli, Gaëtan Lesca et al. · Annals of Neurology · 2019 · 120 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

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 · 111 citations · Full text

Life Sciences, Genetics, Neuroscience +17

Phenotype and genotype of 87 patients with Mowat–Wilson syndrome and recommendations for care

Ivan Ivanovski, Olivera Djurić, Stefano Giuseppe Caraffi et al. · Genetics in Medicine · 2018 · 109 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Mutations in NONO lead to syndromic intellectual disability and inhibitory synaptic defects

Dennis Mircsof, Maéva Langouët, Marlène Rio et al. · Nature Neuroscience · 2015 · 94 citations

Life Sciences, Genetics, Molecular Genetics +16

De novo loss-of-function KCNMA1 variants are associated with a new multiple malformation syndrome and a broad spectrum of developmental and neurological phenotypes

Lina Liang, Xia Li, Sébastien Moutton et al. · Human Molecular Genetics · 2019 · 91 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17