Laura Muiño Mosquera

This paper introduces a novel genetic mouse model of aortic dissection showing immune cell infiltration and altered ECM dynamics.

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.

The paper identifies rare genomic copy number variants (CNVs) in early-onset bicuspid aortic valve (EBAV) cases, implicating new candidate genes like GATA4 and DSCAM in BAV pathogenesis.

The paper uses whole exome sequencing to identify rare genetic variants associated with early onset complications of Bicuspid Aortic Valve in families.