Rare gain-of-function regulatory mutations explain the missing heritability of bicuspid aortic valve
Artemy Zhigulev, Andrey Buyan, Enikő Lázár, Nikita Gryzunov, Karin Lång, Raphaël Mauron, Vladimir Nozdrin, Rapolas Spalinskas, Sailendra Pradhananga, Madeleine Petersson Sjögren, Doreen Schwochow, Anders Franco‐Cereceda, Joakim Lundeberg, Ivan V. Kulakovskiy, Per Eriksson, , Pelin Sahlén
The paper identifies rare gain-of-function regulatory mutations as significant contributors to the missing heritability of bicuspid aortic valve.
Nature Communications · Apr 18, 2026Peer-reviewedGenetic & Genomic Medicine