Investigating the Interplay Between Prematurity and Genetic Variation in the Context of Rare Developmental Disorders
Olivia Wootton, Patrick Campbell, Sarah Richardson, Sarah Lindsay, Qin Qin Huang, Erwan Delage, Sana Amanat, Hilary S. Wong, Helen V. Firth, Matthew E. Hurles, Michael A. Simpson, Elizabeth J. Radford, Hilary C. Martin
The paper examines how prematurity interacts with genetic variation in rare developmental disorders, finding independent and additive effects on phenotypic severity and identifying genetic contributions to preterm birth risk.
Genome Medicine · Oct 30, 2025Peer-reviewedGenetic & Genomic Medicine