Jyoti Maddhesiya

The paper identifies IRX4 variants associated with non-syndromic and Down syndrome-related congenital heart disease and shows their pathogenic effects through functional assays.

This study shows ethanol exposure activates BMP signaling and reprograms cardiomyocyte transcriptomes, identifying key genes involved in ethanol-induced congenital heart disease.

The paper identifies and functionally characterizes novel BMP7 variants in congenital heart disease using in vitro and in silico methods, showing gain-of-function effects.

The paper identifies and functionally characterizes BMP2 variants in congenital heart disease using in vitro and in silico methods, showing increased pathway activity.

The paper identifies four novel BMP4 variants associated with congenital heart disease and shows they enhance BMP signaling through increased SMAD phosphorylation and downstream gene expression.