This study shows that SETD1A promotes PARPi sensitivity in HR-deficient tumor cells by regulating EME1 transcription, and its loss leads to resistance.

British Journal of Cancer · Feb 24, 2025Peer-reviewedCancer Biology

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

Characterization of SETD1A haploinsufficiency in humans and Drosophila defines a novel neurodevelopmental syndrome.

Joost Kummeling, Diante E. Stremmelaar, Nicholas Raun, Margot R.F. Reijnders, Marjolein H. Willemsen, Martina Ruiterkamp‐Versteeg, Marga T. Schepens, C Man, Christian Gilissen, Megan T. Cho, Kirsty M. McWalter, Margje Sinnema, James W. Wheless, Marleen Simon, Casie A. Genetti, , Tjitske Kleefstra

This study characterizes SETD1A haploinsufficiency in humans and Drosophila, identifying a novel neurodevelopmental syndrome with cognitive and developmental symptoms.

Molecular Psychiatry · Apr 28, 2020Peer-reviewedGenetics