Rare variants in the genetic background modulate the expressivity of neurodevelopmental disorders
Lucilla Pizzo, Matthew Jensen, Andrew Polyak, Jill Anne Rosenfeld, Katrin Männik, Arjun Krishnan, Elizabeth McCready, Olivier Pichon, Cédric Le Caignec, Anke Van Dijck, Kate Pope, Els Voorhoeve, Jieun Yoon, Paweł Stankiewicz, Sau Wai Cheung, , Santhosh Girirajan
The paper shows that rare secondary mutations in functionally intolerant genes affect the expressivity of neurodevelopmental disorders in individuals with primary mutations.
Genetics in Medicine · Sep 5, 2018Peer-reviewedGenomics