Somatic DDX41 mutations confer neomorphic splicing activity in the pathogenesis of myelodysplastic neoplasms
Rasika Venkataraman, Noemi Puccio, Tun‐Yun Hsueh, Elizabeth A. Bonner, Fu-Yen Chang, Erica A. Arriaga-Gomez, Axia Song, Takero Miyagawa, Jahan A. Rahman, Oluwanifemi Akinwande, Sayantani Sinha, Ettaib El Marabti, Robert S. Welner, Rui Lu, Paul Brent Ferrell, , Stanley Chun-Wei Lee
This study identifies somatic DDX41 mutations as gain-of-function alleles that drive aberrant splicing, particularly of SEPTIN7, contributing to MDS/AML pathogenesis.
bioRxiv · Sep 24, 2026 · PreprintCancer Biology