Bhagyalaxmi Mohapatra

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

The paper identifies a rare OPA1 variant linked to dilated cardiomyopathy (DCM) through whole-exome sequencing and functional analysis, showing its impact on mitochondrial dynamics and cellular health.

The paper identifies a de novo MFN2 mutation linked to dilated cardiomyopathy through functional and structural analysis.

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 UNC45B variants in DCM patients and shows they cause structural and functional defects leading to cardiac dysfunction.

This study identifies and functionally characterizes LDB3 gene variants in Indian DCM patients, finding six novel missense variants that affect protein structure, expression, and Z-disc integrity.

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.

The paper identifies TITIN variants in DCM patients and uses molecular dynamics to show how these variants affect protein structure and function.

The paper identifies and functionally characterizes CSRP3 variants in Indian DCM patients, showing reduced protein levels and disrupted interactions, suggesting a role in DCM pathogenesis.