Clinical, in vitro, and in vivo evidence of WAPL as a novel cohesinopathy gene and phenotypic driver of 10q22.3q23.2 genomic disorder
Philip M. Boone, Serkan Erdin, Abucar Mohamed, Sadegheh Haghshenas, Kamli N. W. Faour, Emeline M. Kao, Jack M. Fu, Chiara Auwerx, Ricardo Harripaul, Bimal Jana, Danielle Springer, Grey F. Hallström, Celine E. de Esch, Erica Rose Denhoff, Lauren Holmes, , Ilaria Parenti
The paper identifies WAPL as a novel cohesinopathy gene and driver of a genomic disorder, showing its role in developmental delay and other anomalies through clinical, in vitro, and in vivo analyses.
medRxiv · Feb 28, 2026 · PreprintGenetic & Genomic Medicine