Patient-specific functional genomics and disease modeling suggest a role for LRP2 in Hypoplastic Left Heart Syndrome
Jeanne L. Theis, Georg Vogler, Maria Azzurra Missinato, Xing Li, Almudena Martinez‐Fernandez, Tanja Nielsen, Stanley M. Walls, Anaïs Kervadec, Xin-Xin I. Zeng, James N. Kezos, Katja Birker, Jared M. Evans, Megan M. O’Byrne, Zachary C. Fogarty, André Terzic, , Rolf Bodmer
The paper identifies LRP2 as a novel genetic driver of hypoplastic left heart syndrome using whole genome sequencing and multi-model systems.
eLife · Oct 2, 2020Peer-reviewedGenetics