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, Hanka Venselaar, Allan Micheil Innes, Connie T.R.M. Schrander-Stumpel, Katrin Õunap, Karit Reinson, Eleanor G. Seaby, Shane A McKee, Barbara K. Burton, Katherine K. Kim, Johanna M. van Hagen, Quinten Waisfisz, Pascal Joset, , 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.
Human Genetics and Genomics Advances · Nov 1, 2022Peer-reviewedGenetic & Genomic Medicine