Genetic & Genomic MedicinemedRxivPreprint
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…·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.
DOI 10.64898/2026.02.23.26346364