Julie F A De Backer

This study uses a zebrafish model of Marfan syndrome to identify potential therapies through a high-throughput drug screen and luminescence-based phenotyping.

This paper creates a zebrafish model of Marfan syndrome by disrupting fibrillin genes, finding that fbn2b-/- zebrafish exhibit cardiovascular phenotypes similar to human disease.

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

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.