Eric D. Smith

This paper introduces a framework to model haploinsufficiency-mediated human disorders by modulating gene dosage through splicing, demonstrating its application in creating accurate animal models for cardiomyopathies.

This study shows that FICD deficiency protects mice from heart failure by enhancing BiP-mediated UPRER and ER-phagy under stress.

This study shows that DSP haploinsufficiency causes cell-cell adhesion failure in cardiomyopathy and that increasing DSP expression rescues this defect.