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Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 23, 2024
Narrowing the diagnostic gap: Genomes, episignatures, long-read sequencing, and health economic analyses in an exome-negative intellectual disability cohortKerith-Rae Dias, Rupendra Shrestha, Deborah Schofield, 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.Pageof 2