Ashok Kumar

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 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.

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.