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Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 29, 2026
Loss of function of retinol dehydrogenase 11 causes a recessive syndrome characterized by myopathy, retinal dystrophy, juvenile cataracts, and microcephalyFrancesca Clementina Radio, Giorgio Tasca, Sandra Coppens, et al.Journal of Medical Genetics|May 17, 2023
Expanding the phenotypic spectrum of TRAPPC11-related muscular dystrophy: 25 Roma individuals carrying a founder variantMaria Justel, Cristina Jou, Andrea Sariego-Jamardo, et al.Acta Neuropathologica|February 17, 2023
Variants in DTNA cause a mild, dominantly inherited muscular dystrophyAndres Nascimento, Christine C Bruels, Sandra Donkervoort, et al.Journal of Neuromuscular Diseases|July 29, 2025
Real-world data on spinal muscular atrophy in Spain: Insights from over 500 individuals in the CuidAME projectCristina Puig-Ram, Sonia Segovia, Rocio Garcia-Uzquiano, et al.Brain : a Journal of Neurology|May 15, 2023
The emerging spectrum of fetal acetylcholine receptor antibody-related disorders (FARAD)Nicholas M Allen, Mark O'Rahelly, Bruno Eymard, et al.Brain : a Journal of Neurology|June 10, 2025
Loss of DOT1L disrupts neuronal transcription and leads to a neurodevelopmental disorderMarissa J Maroni, Melissa Barton, Katherine Lynch, et al.Medrxiv : the Preprint Server for Health Sciences|November 22, 2024
Loss of DOT1L disrupts neuronal transcription, behavior, and leads to a neurodevelopmental disorderMarissa J Maroni, Melissa Barton, Katherine Lynch, et al.Nature Genetics|September 9, 2025
The Solve-RD Solvathons as a pan-European interdisciplinary collaboration to diagnose patients with rare diseaseVicente A Yépez, German Demidov, Kornelia Ellwanger, et al.Medrxiv : the Preprint Server for Health Sciences|April 8, 2024
The recurrent deep intronic pseudoexon-inducing variant COL6A1 c.930+189C>T results in a consistently severe phenotype of COL6-related dystrophy: Towards clinical trial readiness for splice-modulating therapyA Reghan Foley, Véronique Bolduc, Fady Guirguis, et al.Brain : a Journal of Neurology|April 3, 2025
Characterization of severe COL6-related dystrophy due to the recurrent variant COL6A1 c.930+189C>TA Reghan Foley, Véronique Bolduc, Fady Guirguis, et al.Pageof 7