Judith St‐Onge
McGill University Health Centre(CA)
Publications by Year
Research Areas
Genetics and Neurodevelopmental Disorders, Genomics and Rare Diseases, Genetic and rare skin diseases., Autism Spectrum Disorder Research, Hedgehog Signaling Pathway Studies
Most-Cited Works
- → De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes(2012)745 cited
- → De novo mutations in the gene encoding the synaptic scaffolding protein SHANK3 in patients ascertained for schizophrenia(2010)379 cited
- → PI3K/AKT pathway mutations cause a spectrum of brain malformations from megalencephaly to focal cortical dysplasia(2015)362 cited
- → Novel de novo SHANK3 mutation in autistic patients(2008)321 cited
- → Diagnostic odyssey in severe neurodevelopmental disorders: toward clinical whole‐exome sequencing as a first‐line diagnostic test(2016)267 cited
- → SYN1 loss-of-function mutations in autism and partial epilepsy cause impaired synaptic function(2011)235 cited
- → PIK3R1 Mutations Cause Syndromic Insulin Resistance with Lipoatrophy(2013)202 cited
- → Clinical whole-exome sequencing for the diagnosis of rare disorders with congenital anomalies and/or intellectual disability: substantial interest of prospective annual reanalysis(2017)197 cited
- → De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome(2014)149 cited
- → The oral-facial-digital syndrome gene C2CD3 encodes a positive regulator of centriole elongation(2014)145 cited