ENU-based dominant genetic screen identifies contractile and neuronal gene mutations in congenital heart disease.
Xiaoxi LuoLifeng LiuHaowei RongXiangyang LiuLing YangNan LiHongjun ShiPublished in: Genome medicine (2024)
Our findings suggest that gene mutations affecting early hemodynamic perturbations in the developing heart may play a significant role as a genetic risk factor for CHD. Further validation of the candidate gene set identified in this study could enhance our understanding of the complex genetics underlying CHD and potentially lead to the development of new diagnostic and therapeutic approaches.