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Koumudi Godbole | Researchclopedia

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Koumudi Godbole

Deenanath Mangeshkar Hospital and Research Center

40

Works

968

Citations

15

h-index

19

i10-index

Research Topics

Prenatal Screening and Diagnostics Lysosomal Storage Disorders Research Genomic variations and chromosomal abnormalities

Affiliations

University of Toronto2005–2005

Centre for Cellular and Molecular Biology2008–2008

B. J. Medical College & Sassoon Hospital1997–1999

University of Washington2015–2015

Hospital for Sick Children2004–2005

Top Works

Recessive mutations in the <i>INS</i> gene result in neonatal diabetes through reduced insulin biosynthesis

Intza Garin,Emma L. Edghill,et al.

2010208 citations

Folate and B Vitamins Research

RNA modifications and cancer

An in-frame deletion at the polymerase active site of POLD1 causes a multisystem disorder with lipodystrophy

Michael N. Weedon,Sian Ellard,et al.

2013183 citations

A Novel Syndrome of Mandibular Hypoplasia, Deafness, and Progeroid Features Associated with Lipodystrophy, Undescended Testes, and Male Hypogonadism

Savitha Shastry,Vinaya Simha,et al.

201070 citations

Burden of Lysosomal Storage Disorders in India: Experience of 387 Affected Children from a Single Diagnostic Facility

Jayesh Sheth,Mehul Mistri,et al.

201360 citations

Maternal one‐carbon metabolism, <i>MTHFR</i> and <i>TCN2</i> genotypes and neural tube defects in India

Koumudi Godbole,Panjalingam Gayathri,et al.

201159 citations

Mutations in the Human<i>UBR1</i>Gene and the Associated Phenotypic Spectrum

Maja Sukalo,Ariane Fiedler,et al.

201456 citations

<i>WDR73</i>Mutations Cause Infantile Neurodegeneration and Variable Glomerular Kidney Disease

Julia Vodopiutz,Rainer Seidl,et al.

201554 citations

Nutrigenetic determinants of neural tube defects in India.

Koumudi Godbole,Urmila Deshmukh,et al.

200941 citations

Lysosomal Storage Disorders in Nonimmune Hydrops Fetalis (NIHF): An Indian Experience

Jayesh Sheth,Mehul Mistri,et al.

201623 citations