Patrick Yves Sips

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 study evaluates a COL1A2 variant of uncertain significance using zebrafish knock-in models, showing that pathogenic variants cause skeletal abnormalities while VUS and benign variants do not.

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

This study develops a zebrafish model of thoracic aortic dissection and rupture by knocking out SMAD3 and SMAD6 genes, revealing novel pathways and potential therapeutic targets.

This study shows that loss of atp6v1e1b in zebrafish causes multisystemic defects linked to reduced organelle acidification, revealing new biological impacts of v-ATPase dysfunction.

This study shows zebrafish mutants with type I collagen mutations closely mimic human collagenopathies, revealing phenotypic variability linked to disease severity and potential for identifying genetic modifiers.