GeneticsbioRxivPreprint
Functionally significant, novel variants of BMP4 are associated with isolated congenital heart disease
Jyoti Maddhesiya, Ritu Dixit, Ashok Kumar, Bhagyalaxmi Mohapatra
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.
DOI 10.1101/2025.05.26.656099