Assessing the contribution of rare variants to congenital heart disease through a large-scale case-control exome study
Enrique Audain, Anna Wilsdon, Gregor Dombrowsky, Alejandro Sifrim, Jeroen Breckpot, Yasset Pérez‐Riverol, Siobhan Loughna, Allan Daly, Pavlos Antoniou, P. Hofmann, Amilcar Pérez-Riverol, Anne‐Karin Kahlert, Ulrike M. M. Bauer, Thomas Pickardt, Sabine Klaassen, , Marc‐Phillip Hitz
This study identifies rare variants and digenic interactions associated with congenital heart disease using a large-scale exome case-control analysis.
npj Genomic Medicine · Jun 2, 2026Peer-reviewedGenetic & Genomic Medicine