Likely damaging de novo variants in congenital diaphragmatic hernia patients are associated with worse clinical outcomes
Congenital diaphragmatic hernia (CDH) is associated with significant mortality and long-term morbidity in some but not all individuals. We hypothesize monogenic factors that cause CDH are likely to have pleiotropic effects and be associated with worse clinical outcomes. We enrolled and prospectively followed 647 newborns with CDH and performed genomic sequencing on 462 trios to identify de novo…
