Select Publications

In an especially young cohort of sudden death in young humans, we found excess nonsynonymous variation in both cardiomyopathy and epilepsy-related genes

We identified a linkage disequilibrium block in MTCH2 associated with cardiomyopathy and obesity, with opposite direction of effect in the two conditions, backed up by extensive in vivo validation in Drosophila

In this paper, we used human genetics, mouse, and zebrafish modeling to identify pathogenic variants in PCM1 that disrupt ciliary integrity and associate with treatment-resistant psychosis

We found that the small molecule, MCB-613, reduced post myocardial infarction injury by reducing inflammatory damage

We found again that expressing YAP5SA in post-mitotic cells is sufficient to promote renewal

Here, we identified the likely causal variants underlying a suspected recessive ciliopathy in the affected individuals, which we validated using zebrafish and cell culture assays

We found that cardiomyocyte-specific expression of a version of YAP that cannot be inhibited by canonical Hippo signaling caused dramatic cell-cylce re-entry and re-expression of an embryonic cardiomyocyte gene program.