Benoît Mazel

Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction

Joery den Hoed, Elke de Boer, Norine Voisin et al. · The American Journal of Human Genetics · 2021 · 54 citations · Full text

Neurodevelopmental Disorders, Different Neurodevelopmental Disorders, Neurodegenerative Diseases +15

Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants

Sayaka Kayumi, Luis A. Pérez‐Jurado, María Palomares‐Bralo et al. · Genetics in Medicine · 2022 · 48 citations · Full text

ADGRL1 haploinsufficiency causes a variable spectrum of neurodevelopmental disorders in humans and alters synaptic activity and behavior in a mouse model

Antonio Vitobello, Benoît Mazel, Vera G. Lelianova et al. · The American Journal of Human Genetics · 2022 · 40 citations · Full text

Neurodevelopmental Disorders, Knockout Mouse, Synaptic Plasticity +12

<i>CAPRIN1</i> haploinsufficiency causes a neurodevelopmental disorder with language impairment, ADHD and ASD

Lisa Pavinato, Andrea Delle Vedove, Diana Carli et al. · Brain · 2022 · 37 citations · Full text

CDK13-related disorder: Report of a series of 18 previously unpublished individuals and description of an epigenetic signature

Flavien Rouxel, Raissa Relator, Jennifer Kerkhof et al. · Genetics in Medicine · 2022 · 24 citations · Full text

Chromatin, Genetic Disorder, Cdk13-related Disorder +12