Helen M. Phillips

This study shows that SLC5A6 deficiency causes dilated cardiomyopathy in mice, which can be prevented by vitamin supplementation, mirroring clinical outcomes in patients.

The paper shows that arterial endoglin (ENG) is not necessary to prevent arteriovenous malformations (AVMs), as specific loss of ENG in venous and capillary endothelium resulted in AVM frequency similar to pan-endothelial loss.

The paper shows Pax9 is essential for cardiovascular development and interacts with Tbx1 in the pharyngeal endoderm to regulate 4th pharyngeal arch artery formation.