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Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 17, 2017
Blepharocheilodontic syndrome is a CDH1 pathway-related disorder due to mutations in CDH1 and CTNND1Jamal Ghoumid, Morgane Stichelbout, Anne-Sophie Jourdain, et al.American Journal of Medical Genetics. Part A|July 9, 2025
AP2M1 Is a Candidate Gene for Microcephaly and Intellectual Disability in 3q27.1 DeletionsRussell Gear, Paul Kalitsis, Melissa Glass, et al.Journal of Human Genetics|August 14, 2020
The clinical-phenotype continuum in DYNC1H1-related disorders-genomic profiling and proposal for a novel classificationLena-Luise Becker, Hormos Salimi Dafsari, Jens Schallner, et al.Nature Communications|September 21, 2021
Identification of limb-specific Lmx1b auto-regulatory modules with Nail-patella syndrome pathogenicityEndika Haro, Florence Petit, Charmaine U Pira, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 13, 2024
RPL26 variants: A rare cause of Diamond-Blackfan anemia syndrome with multiple congenital anomalies at the forefrontClémence Vanlerberghe, Frédéric Frénois, Thomas Smol, et al.Stem Cell Reports|September 23, 2022
Age-related pathological impairments in directly reprogrammed dopaminergic neurons derived from patients with idiopathic Parkinson's diseaseJanelle Drouin-Ouellet, Emilie M Legault, Fredrik Nilsson, et al.Orphanet Journal of Rare Diseases|March 29, 2012
Spectrum of pontocerebellar hypoplasia in 13 girls and boys with CASK mutations: confirmation of a recognizable phenotype and first description of a male mosaic patientLydie Burglen, Sandra Chantot-Bastaraud, Catherine Garel, et al.Neuromuscular Disorders : NMD|January 2, 2019
Spinal muscular atrophy with respiratory distress type 1: A multicenter retrospective studyAgnès Viguier, Valérie Lauwers-Cances, Pascal Cintas, et al.EMBO Molecular Medicine|May 19, 2025
Somatic PIK3R1 mutations in the iSH2 domain are accessible to PI3Kα inhibitionGabriel Morin, Alexandre P Garneau, Nabiha Bouzakher, et al.Journal of Genetics and Genomics = Yi Chuan Xue Bao|October 5, 2024
RFC2 may contribute to the pathogenicity of Williams syndrome revealed in a zebrafish modelJi-Won Park, Tae-Ik Choi, Tae-Yoon Kim, et al.Pageof 15