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 · 753 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

De novo mutations in the gene encoding the synaptic scaffolding protein <i>SHANK3</i> in patients ascertained for schizophrenia

Julie Gauthier, Nathalie Champagne, Ronald G. Lafrenière et al. · Proceedings of the National Academy of Sciences · 2010 · 380 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

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 · 365 citations · Full text

Medicine, Genetics, Molecular Genetics +17

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 · 322 citations

Life Sciences, Genetics, Molecular Genetics +15

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 · 269 citations

Life Sciences, Genetics, Molecular Genetics +17