Clinical, in vitro, and in vivo evidence of WAPL as a cohesinopathy-associated gene and phenotypic driver of 10q22.3q23.2 genomic disorder

Boone et al. describe a neurodevelopmental condition caused by haploinsufficiency of the cohesin release factor WAPL and provide phenotypic and functional genomic evidence of WAPL as a driver gene within the 10q22.3q23.2 genomic disorder region.