Koumudi Godbole

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

Intza Garin, Emma L. Edghill, İldem Akerman et al. · Proceedings of the National Academy of Sciences · 2010 · 205 citations · Full text

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

Michael N. Weedon, Sian Ellard, Marc J. Prindle et al. · Nature Genetics · 2013 · 180 citations · Full text

Polymerase Active Site, Molecular Biology, Pathology +3

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

Savitha Shastry, Vinaya Simha, Koumudi Godbole et al. · The Journal of Clinical Endocrinology & Metabolism · 2010 · 68 citations · Full text

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

Jayesh Sheth, Mehul Mistri, Frenny Sheth et al. · JIMD Reports · 2013 · 60 citations · Full text

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

Koumudi Godbole, Panjalingam Gayathri, Smita Ghule et al. · Birth Defects Research Part A Clinical and Molecular Teratology · 2011 · 59 citations