Bi-allelic ATG4D variants are associated with a neurodevelopmental disorder characterized by speech and motor impairment.
De novo variants in MRTFB have gain-of-function activity in Drosophila and are associated with a novel neurodevelopmental phenotype with dysmorphic features.
Unraveling non-participation in genomic research: A complex interplay of barriers, facilitators, and sociocultural factors.
Biallelic variants in ribonuclease inhibitor (RNH1), an inflammasome modulator, are associated with a distinctive subtype of acute, necrotizing encephalopathy.
