Genetic & Genomic MedicineHuman Genetics and Genomics AdvancesPeer-reviewed
A clustering of missense variants in the crucial chromatin modifier WDR5 defines a new neurodevelopmental disorder
Lot Snijders Blok, Jolijn J. A. Verseput, Dmitrijs Rots…·Tjitske Kleefstra
The paper identifies six rare de novo missense variants in WDR5 associated with neurodevelopmental disorders and highlights their impact on COMPASS family protein interactions.