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Human Mutation|August 8, 2018
LINE- and Alu-containing genomic instability hotspot at 16q24.1 associated with recurrent and nonrecurrent CNV deletions causative for ACDMPVPrzemyslaw Szafranski, Ewelina Kośmider, Qian Liu, 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.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.Cancer Research|June 25, 2017
Functionally Null RAD51D Missense Mutation Associates Strongly with Ovarian CarcinomaBarbara Rivera, Massimo Di Iorio, Jessica Frankum, 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.American Journal of Human Genetics|February 8, 2020
The Canadian Rare Diseases Models and Mechanisms (RDMM) Network: Connecting Understudied Genes to Model OrganismsKym M Boycott, Philippe M Campeau, Heather E Howley, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 17, 2019
Biallelic variants in the transcription factor PAX7 are a new genetic cause of myopathyRené G Feichtinger, Bettina E Mucha, Holger Hengel, et al.Journal De Gynecologie, Obstetrique Et Biologie De La Reproduction|January 22, 2015
[Does prenatal diagnosis modify neonatal management and early outcome of children with esophageal atresia type III?]C Garabedian, R Sfeir, C Langlois, et al.American Journal of Human Genetics|December 7, 2010
Hypomorphic temperature-sensitive alleles of NSDHL cause CK syndromeKeith W McLarren, Tesa M Severson, Christèle du Souich, et al.Pageof 50