Area of research
Genetics · Molecular Biology
Research interest
Research interests include Muscle Physiology and Disorders, Genomics and Rare Diseases, Neurogenetic and Muscular Disorders Research, and Cardiomyopathy and Myosin Studies.
A single NGS‐based assay covering the entire genomic sequence of the <i>DMD</i> gene facilitates diagnostic and newborn screening confirmatory testing
Clinical and Genomic Evaluation of 207 Genetic Myopathies in the Indian Subcontinent
Clinical utility of RNA sequencing to resolve unusual GNE myopathy with a novel promoter deletion
Genetic landscape and novel disease mechanisms from a large <scp>LGMD</scp> cohort of 4656 patients
A comprehensive quantitative phosphoproteome analysis of rice in response to bacterial blight
Quantitative phosphoproteomic analysis of early seed development in rice (Oryza sativa L.)
Molecular Diagnosis of Duchenne Muscular Dystrophy
A novel dysferlin mutant pseudoexon bypassed with antisense oligonucleotides