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Human Mutation|August 6, 2013
The TREAT-NMD Duchenne muscular dystrophy registries: conception, design, and utilization by industry and academiaCatherine L Bladen, Karen Rafferty, Volker Straub, et al.Journal of Neuromuscular Diseases|November 11, 2017
Clinical Outcomes in Duchenne Muscular Dystrophy: A Study of 5345 Patients from the TREAT-NMD DMD Global DatabaseZaïda Koeks, Catherine L Bladen, David Salgado, et al.Nature Communications|July 1, 2026
De novo EHMT2 variants cause an autosomal dominant EHMT2-related Kleefstra syndrome via loss of G9a methyltransferase activityAleš Hnízda, Beatriz Martinez-Delgado, Diana Sanchez-Ponce, et al.Nature Medicine|January 17, 2025
Genomic reanalysis of a pan-European rare-disease resource yields new diagnosesSteven Laurie, Wouter Steyaert, Elke de Boer, et al.Pageof 14