Koumudi Godbole
Deenanath Mangeshkar Hospital and Research Center(IN)
Publications by Year
Research Areas
Prenatal Screening and Diagnostics, Lysosomal Storage Disorders Research, Genomic variations and chromosomal abnormalities, Folate and B Vitamins Research, RNA modifications and cancer
Most-Cited Works
- → Recessive mutations in the INS gene result in neonatal diabetes through reduced insulin biosynthesis(2010)208 cited
- → An in-frame deletion at the polymerase active site of POLD1 causes a multisystem disorder with lipodystrophy(2013)183 cited
- → A Novel Syndrome of Mandibular Hypoplasia, Deafness, and Progeroid Features Associated with Lipodystrophy, Undescended Testes, and Male Hypogonadism(2010)70 cited
- → Burden of Lysosomal Storage Disorders in India: Experience of 387 Affected Children from a Single Diagnostic Facility(2013)60 cited
- → Maternal one‐carbon metabolism, MTHFR and TCN2 genotypes and neural tube defects in India(2011)59 cited
- → Mutations in the HumanUBR1Gene and the Associated Phenotypic Spectrum(2014)56 cited
- → WDR73Mutations Cause Infantile Neurodegeneration and Variable Glomerular Kidney Disease(2015)54 cited
- Nutrigenetic determinants of neural tube defects in India.(2009)
- → Lysosomal Storage Disorders in Nonimmune Hydrops Fetalis (NIHF): An Indian Experience(2016)23 cited
- → Burden of rare genetic disorders in India: twenty-two years’ experience of a tertiary centre(2024)19 cited