The contribution of de novo coding mutations to meningomyelocele
Yoo-Jin Jiny Ha, Ashna Nisal, Isaac Tang, Chanjae Lee, Ishani Jhamb, Cassidy Wallace, Robyn E. Howarth, Sarah Schroeder, Keng Ioi Vong, Naomi Meave Ojeda, Fiza Jiwani, Chelsea Barrows, Sangmoon Lee, Nan Jiang, Arzoo M. Patel, , Joseph G. Gleeson
The paper identifies de novo mutations contributing to meningomyelocele risk by analyzing trios and finding damaging mutations in 22.3% of cases.
Nature · Mar 26, 2025Peer-reviewedGenetic & Genomic Medicine