Jolijn J. A. Verseput

The paper investigates sex-specific penetrance in PILBOS, showing male overrepresentation and androgen-mediated sexual dimorphism through genetic and mouse model studies.

This study functionally characterizes SATB2 missense variants to identify distinct effects on chromatin binding and transcriptional activity, revealing partial loss-of-function and some variants with increased function.

The paper identifies six rare de novo missense variants in WDR5 associated with neurodevelopmental disorders and highlights their impact on COMPASS family protein interactions.