Author
Manipal Academy of Higher EducationORCID 0000-0001-9521-7031Unclaimed ORCID profile · follow to get notified of new preprints
Mutual co-authors in cluster
3 papers
Recent·Most cited
Ankur Chaurasia, Anju Shukla, Shruti Pande…·Katta M. Girisha
The paper systematically analyzes homozygous autosomal copy number losses in exomes to improve diagnostic yield and identify ultra-rare recessive disorders.
Michael Robert Murphy, Mythily Ganapathi, Esther R. Rotlevi…·Xuebing Wu
The paper identifies a pathogenetic mechanism for RPL3L-linked dilated cardiomyopathy, showing that gain-of-toxicity variants in muscle-specific ribosomes cause severe neonatal heart failure.
Jessica X. Chong, Jared Coffin Talbot, Emily M. Teets…·Michael J. Bamshad
The paper identifies mutations in MYLPF causing segmental amyoplasia with distal arthrogryposis, showing both dominant and recessive inheritance patterns and linking MYLPF impairment to muscle degeneration.