Aberrant recursive splicing in a human disease locus
Philip M. Boone, Ricardo Harripaul, Rachita Yadav, Michael N. Grzybowski, Mahmoud K. Hanafy, Amanda C. Lee, Esther Y. Choi, Ryan L. Collins, Oksana Polesskaya, Nina R. Makhortova, Matthew O. Larson, Hakan Kayır, Yizhi Wang, Rodolfo A. Avila, Jude A. Frie, , Michael E. Talkowski
The paper investigates the functional role of recursive splicing in CADM2, showing that its deletion leads to altered gene expression and behavioral changes in neurodevelopmental disorders.
bioRxiv · Aug 14, 2025 · PreprintGenomics