Sara Cioffi

The paper investigates the role of Vegfr3 and Tbx1 in cardiac outflow tract development, finding that Tbx1 modulates Vegfr3's requirement for normal OFT development.

This study identifies Vegfr3 as a regulator of brain vessel branching and filopodia formation in a Tbx1 mutant mouse model of 22q11.2 deletion syndrome.

This study identifies two drugs that rescue the brain cortex phenotype in Tbx1 mutant mice, suggesting potential therapeutic strategies for 22q11.2 deletion syndrome.

This study shows that Tbx1 and Vegfr3 interact genetically to regulate cardiac lymphangiogenesis, with dosage balance required for proper vessel development.

The paper evaluates left pulmonary artery dimensions in 22q11.2DS patients without cardiac defects and finds reduced LPA/RPA ratios, supported by Tbx1 mutant mouse studies showing similar anomalies.