Judith St‐Onge

De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes

Jean-Baptiste Rivière, Ghayda Mirzaa, Brian J. O’Roak et al. · Nature Genetics · 2012 · 737 citations · Full text

Mendelian Disorder, Genetic Disorder, Medicine +11

PI3K/AKT pathway mutations cause a spectrum of brain malformations from megalencephaly to focal cortical dysplasia

Laura A. Jansen, Ghayda Mirzaa, Gisele E. Ishak et al. · Brain · 2015 · 359 citations · Full text

Novel de novo SHANK3 mutation in autistic patients

Julie Gauthier, Dan Spiegelman, Amélie Piton et al. · American Journal of Medical Genetics Part B Neuropsychiatric Genetics · 2008 · 320 citations

Diagnostic odyssey in severe neurodevelopmental disorders: toward clinical whole‐exome sequencing as a first‐line diagnostic test

Julien Thévenon, Yannis Duffourd, Alice Masurel‐Paulet et al. · Clinical Genetics · 2016 · 265 citations

SYN1 loss-of-function mutations in autism and partial epilepsy cause impaired synaptic function

Anna Fassio, Lysanne Patry, Sonia Congia et al. · Human Molecular Genetics · 2011 · 233 citations · Full text