0000-0001-8013-7426 Employment
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National Institute of Biomedical Genomics
Education
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Publications (16)
- Restoration of Cx43-ERp29 interactions rescues Amyloid-β induced gap junction deficits in human astrocytes Save
- Novel truncating Desmin mutation Arg150Stop disrupts structural integrity and cellular homeostasis by formation of persistent aggregate-like structure Save
- Novel truncating Desmin mutation Arg150Stop disrupts structural integrity and cellular homeostasis by formation of persistent aggregate-like structure Save
- Whole exome sequencing reveals novel and rare variants in non-syndromic hearing loss-related genes: A focus on GPSM2 compound heterozygosity Save
- A quantitative trait GWAS on lens thickness identifies novel risk loci on PTPRM in the narrow angle individuals susceptible to PACG Save
- A whole-exome analysis of non-syndromic hearing loss patients from India reveals a wide spectrum of known and novel mutations Save
- Identification of a shared, common haplotype cosegregating with an SGCB c.544A>C mutation in Indian patients affected with sarcoglycanopathy Save
- Haplotype-based genomic analysis reveals novel association of CNTNAP5 genic region with primary angle closure glaucoma Save
- Whole-exome analyses of congenital muscular dystrophy and congenital myopathy patients from India reveal a wide spectrum of known and novel mutations. Save
- Disease-Phenotype Deconvolution in Genetic Eye Diseases Using Online Mendelian Inheritance in Man. Save