Elizabeth M. McNally

This paper introduces a mesoscale soft robotic interface to apply mechanical forces to human organoids and monitor their physiological responses, revealing distinct mechanical and electrophysiological behaviors in cortical and cardiac organoids.

This study examines how genetic testing results for cardiomyopathy and arrhythmia influence clinical management decisions, finding that positive results lead to more management changes.

The paper evaluates the clinical validity of heterozygous ALPK3 loss-of-function variants as a cause of hypertrophic cardiomyopathy, finding strong gene-disease association with reduced penetrance.

This study identifies genetic variants in epilepsy, cardiomyopathy, and arrhythmia genes in a sudden death in the young cohort, finding enrichment of damaging variants and a correlation with younger age at death.

The paper structures evidence on inheritance, allelic requirement, and variant classes for inherited cardiac conditions to improve variant filtering in genomic testing.

The paper shows that different forms of muscular dystrophy have distinct ECM compositions that affect myoblast motility, with annexin A6 playing a key role in enhancing movement.

The paper identifies pathogenic variants in arrhythmia genes in eMERGE-III participants and reclassifies variants of uncertain significance using functional studies.

The paper uses longitudinal biobank data to analyze genetic associations with cardiovascular phenotypes, identifying novel variants near WLS and MYO10 genes.

This study uses CAGE-seq to analyze promoter and enhancer usage in healthy and failed human hearts, identifying changes in gene regulation associated with heart failure.

The paper generates promoter interaction maps in human iPSCs and cardiomyocytes to link CVD-associated SNPs to target genes, showing most SNPs interact with non-nearest genes.