David Salgado

CNVscore calculates pathogenicity scores for copy number variants together with uncertainty estimates accounting for learning biases in reference Mendelian disorder datasets.

CNVscore calculates pathogenicity scores for copy number variants with uncertainty estimates, improving the assessment of CNV pathogenicity in rare disease cohorts.

Hox-dependent coordination of cardiac progenitor cell patterning and differentiation

This study investigates the role of Hoxb1 in regulating cardiac progenitor cell patterning and differentiation, showing its negative regulation of posterior SHF differentiation and its impact on congenital heart defects.

Auto-inhibition of myoblast fusion by cyclic receptor signalling.

This study identifies TGFβ signaling as a regulatory brake on myoblast fusion, showing that its cyclic activation controls the rate of muscle fusion during embryonic development.

Piezo1 is required for outflow tract and aortic valve development.

This study shows that PIEZO1 is essential for outflow tract and aortic valve development in zebrafish and identifies PIEZO1 variants linked to bicuspid aortic valve in humans.

A human cell model of cardiac pathophysiological valvulogenesis

This paper develops a human pluripotent stem cell model to study valvulogenesis and disease, showing it can recapitulate valve development and disease traits like mitral valve prolapse.