Systems genetics analysis identifies calcium-signaling defects as novel cause of congenital heart disease.

Jose M G IzarzugazaSabrina G EllesøeCanan DoganliNatasja Spring EhlersMarlene D DalgaardEnrique AudainGregor DombrowskyKarina BanasikAlejandro SifrimAnna WilsdonBernard ThienpontJeroen BreckpotMarc Gewillignull nullJ David BrookMarc-Phillip HitzLars Allan LarsenSøren Brunak

Published in: Genome medicine (2020)

The study identifies abnormal calcium signaling as a novel pathophysiological mechanism in human CHD and confirms the complex genetic architecture underlying CHD.

Keyphrases

congenital heart disease
genome wide
endothelial cells
induced pluripotent stem cells
gene expression
pluripotent stem cells