Kristýna Neffeová

The paper identifies de novo EHMT2 variants causing an autosomal dominant Kleefstra syndrome by impairing G9a methyltransferase activity, mimicking EHMT1 haploinsufficiency.

This study shows that Jag1 deficiency in mice causes heart malformations and electrical dysfunction, leading to Tetralogy of Fallot-like defects and mechanical dyssynchrony.

This study shows that loss of primary cilia in second heart field cells causes bicuspid aortic valve by disrupting Notch-Jag1 signaling and altering valve leaflet formation.