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American Journal of Human Genetics|April 17, 2025
Bi-allelic pathogenic variants in TRMT1 disrupt tRNA modification and induce a neurodevelopmental disorderStephanie Efthymiou, Cailyn P Leo, Chenghong Deng, et al.Brain : a Journal of Neurology|February 9, 2023
The clinical and genetic spectrum of autosomal-recessive TOR1A-related disordersAfshin Saffari, Tracy Lau, Homa Tajsharghi, et al.Annals of Neurology|October 7, 2025
Mutations in the Key Autophagy Tethering Factor EPG5 Link Neurodevelopmental and Neurodegenerative Disorders Including Early-Onset ParkinsonismHormos Salimi Dafsari, Celine Deneubourg, Kritarth Singh, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 14, 2024
Clinical and genetic delineation of autosomal recessive and dominant ACTL6B-related developmental brain disordersElisa Cali, Tania Quirin, Clarissa Rocca, et al.Pageof 7