Dharmendra Jain

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 de novo MFN2 mutation linked to dilated cardiomyopathy through functional and structural analysis.

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.