Enrique Lara‐Pezzi

This study identifies abnormal ventricular wall patterning as a driver of MYBPC3-related hypertrophic cardiomyopathy through disrupted cardiomyocyte proliferation and Prdm16 regulation.

This study shows that loss of CnAβ1 enhances brown adipocyte differentiation and metabolic activity through FoxO1 activation, leading to improved insulin sensitivity and reduced body weight on a high-fat diet.

This study shows that titin cleavage drives cardiomyocyte disengagement and fibrosis in heart disease, contributing to myocardial remodeling.

Paternal cardiac injury in mice improves offspring cardiac recovery and function through heritable changes.

The paper identifies non-coding variants upstream of MEF2C causing severe developmental disorder through three distinct loss-of-function mechanisms, showing their diagnostic importance in existing exome datasets.

The paper investigates alternative splicing (AS) in cardiac pathophysiology, identifying PTBP1 as a key regulator of AS changes that drive cardiac hypertrophy and diastolic dysfunction.

dSreg is a Bayesian model that integrates RNA-seq and regulatory data to identify alternative splicing changes and RNA binding protein activity, improving sensitivity and specificity.