KDM5A mutations identified in autism spectrum disorder using forward geneticsLauretta El Hayek, Maria H. Chahrour, İslam Oğuz Tuncay et al.|eLife|2020Cited by 63
A common flanking variant is associated with enhanced stability of the FGF14-SCA27B repeat locusDavid Pellerin, Sarah Fazal, Isaac Xu et al.|Nature Genetics|2024Cited by 34
Pushing the boundaries of rare disease diagnostics with the help of the first Undiagnosed HackathonA M Delgado-Vega, Mariya Lysenkova Wiklander, Helene Cederroth et al.|Nature Genetics|2024Cited by 7