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Journal of Medical Genetics|July 5, 2022
Bi-allelic variants in WNT7B disrupt the development of multiple organs in humansSamir Bouasker, Nisha Patel, Rebecca Greenlees, et al.
Proceedings of the National Academy of Sciences of the United States of America|April 14, 2010
De novo mutations in the gene encoding the synaptic scaffolding protein SHANK3 in patients ascertained for schizophreniaJulie Gauthier, Nathalie Champagne, Ronald G Lafrenière, et al.
American Journal of Human Genetics|March 8, 2011
Excess of de novo deleterious mutations in genes associated with glutamatergic systems in nonsyndromic intellectual disabilityFadi F Hamdan, Julie Gauthier, Yoichi Araki, et al.
American Journal of Human Genetics|April 17, 2012
SHANK1 Deletions in Males with Autism Spectrum DisorderDaisuke Sato, Anath C Lionel, Claire S Leblond, et al.
American Journal of Human Genetics|October 20, 2015
Joubert Syndrome in French Canadians and Identification of Mutations in CEP104Myriam Srour, Fadi F Hamdan, Dianalee McKnight, et al.
Nature Genetics|September 24, 2013
Mutations in genes encoding the cadherin receptor-ligand pair DCHS1 and FAT4 disrupt cerebral cortical developmentSilvia Cappello, Mary J Gray, Caroline Badouel, et al.
Cancer Research|June 25, 2017
Functionally Null RAD51D Missense Mutation Associates Strongly with Ovarian CarcinomaBarbara Rivera, Massimo Di Iorio, Jessica Frankum, et al.
American Journal of Human Genetics|August 28, 2010
Direct measure of the de novo mutation rate in autism and schizophrenia cohortsPhilip Awadalla, Julie Gauthier, Rachel A Myers, et al.
Pediatric Neurology|August 24, 2024
Cohort Expansion and Genotype-Phenotype Analysis of RAB11A-Associated Neurodevelopmental DisorderMaria Carla Borroto, Heena Patel, Siddharth Srivastava, et al.
Human Mutation|September 30, 2014
De novo mutations in the motor domain of KIF1A cause cognitive impairment, spastic paraparesis, axonal neuropathy, and cerebellar atrophyJae-Ran Lee, Myriam Srour, Doyoun Kim, et al.
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