L. Mestroni

Genotype and arrhythmic risk in dilated cardiomyopathy.

Pathway-Guided and Patient-Centered Therapeutic Strategies in Atherosclerotic Cardiovascular Disease.

Atherosclerotic cardiovascular disease (ASCVD), encompassing coronary artery disease (CAD), cerebrovascular disease (ischemic stroke, IS; and transient ischemic attack, TIA), and peripheral artery disease (PAD) of atherosclerotic origin, remains a leading cause of morbidity and mortality worldwide despite major advance...

Atrial Fibrillation in Genotyped Dilated Cardiomyopathy: Epidemiology, Risk Factors, and Outcomes: Insights From the SHaRe Registry.

BACKGROUND Atrial fibrillation (AF) is the most common arrhythmia in dilated cardiomyopathy (DCM) and is associated with adverse outcomes. However, the genetic determinants of AF risk and its prognostic significance across genotyped DCM subtypes remain unknown. METHODS In this observational cohort study, we analyzed...

Cross-cohort analysis of expression and splicing quantitative trait loci in TOPMed.

This work fine-mapped UK Biobank-derived genome-wide association study (GWAS) signals from 164 traits and identified e/sQTL colocalizations for 10,611 GWAS signals, including 7096 that colocalize with secondary e/sQTLs.

Damaging RBM20 E-rich domain variants are not rescued by gene replacement

The data indicate that pathogenic E-rich domain variants reduce RBM20 protein abundance, but that their mechanism is unlikely to be explained by haploinsufficiency alone.