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Koumudi Godbole
Observed names:
Godbole, Koumudi,
K Godbole,
K. G. Godbole,
K. Godbole,
K.G. Godbole,
Komudi Godbole,
Koumudi G. Godbole
show all 7
Institution:
Deenanath Mangeshkar Hospital and Research Center
Observed institutions:
University of Toronto,
B. J. Medical College & Sassoon Hospital,
Hospital for Sick Children,
Deenanath Mangeshkar Hospital and Research Center,
King Edward Memorial Hospital Research Centre
OpenAlex ID:
A5113614101
Recessive mutations in the INS gene result in neonatal diabetes through reduced insulin biosynthesis
2010
·
Intza Garin
, Emma L. Edghill
, et al.
·
Proceedings of the National Academy of Sciences
·
213
An in-frame deletion at the polymerase active site of POLD1 causes a multisystem disorder with lipodystrophy
2013
·
Michael N Weedon
, Sian Ellard
, et al.
·
Nature Genetics
·
186
Phenotypic features of carbohydrate sulfotransferase 3 (CHST3) deficiency in 24 patients: Congenital dislocations and vertebral changes as principal diagnostic features
2010
·
Sheila Unger
, Ekkehart Lausch
, et al.
·
American Journal of Medical Genetics Part A
·
81
A Novel Syndrome of Mandibular Hypoplasia, Deafness, and Progeroid Features Associated with Lipodystrophy, Undescended Testes, and Male Hypogonadism
2010
·
Savitha Shastry
, Vinaya Simha
, et al.
·
The Journal of Clinical Endocrinology & Metabolism
·
71
PDF
Burden of Lysosomal Storage Disorders in India: Experience of 387 Affected Children from a Single Diagnostic Facility
2013
·
Jayesh Sheth
, Mehul Mistri
, et al.
·
JIMD Reports
·
58
Maternal one‐carbon metabolism, MTHFR and TCN2 genotypes and neural tube defects in India
2011
·
Koumudi Godbole
, Panjalingam Gayathri
, et al.
·
Birth Defects Research Part A Clinical and Molecular Teratology
·
58
WDR73Mutations Cause Infantile Neurodegeneration and Variable Glomerular Kidney Disease
2015
·
Julia Vodopiutz
, Rainer Seidl
, et al.
·
Human Mutation
·
55
PDF
Mutations in the HumanUBR1Gene and the Associated Phenotypic Spectrum
2014
·
Maja Sukalo
, Ariane Fiedler
, et al.
·
Human Mutation
·
55
PDF
Nutrigenetic determinants of neural tube defects in India.
2009
·
Koumudi Godbole
, Urmila Deshmukh
, et al.
·
PubMed
·
40
Burden of rare genetic disorders in India: twenty-two years’ experience of a tertiary centre
2024
·
Jayesh Sheth
, Aadhira Nair
, et al.
·
Orphanet Journal of Rare Diseases
·
27
PDF
Lysosomal Storage Disorders in Nonimmune Hydrops Fetalis (NIHF): An Indian Experience
2016
·
Jayesh Sheth
, Mehul Mistri
, et al.
·
JIMD Reports
·
24
PDF
FERMT1 promoter mutations in patients with Kindler syndrome
2014
·
C. Has
, N. Chmel
, et al.
·
Clinical Genetics
·
20
H syndrome-Four new patients from India
2014
·
Abraham Zlotogorski
, Nutan Kamath
, et al.
·
Indian Journal of Dermatology Venereology and Leprology
·
17
Early predictors of neurodevelopmental outcome in high risk infants.
1997
·
K Godbole
, S Barve
, et al.
·
PubMed
·
17
Fetal Programming of Type 2 Diabetes
2007
·
Chittaranjan S. Yajnik
, Koumudi Godbole
, et al.
·
Diabetes Care
·
16
PDF
Role of fetal autopsy as a complementary tool to prenatal ultrasound
2013
·
Koumudi Godbole
, Vijayshri Bhide
, et al.
·
The Journal of Maternal-Fetal & Neonatal Medicine
·
15
Low prevalence of GJB2 mutations in non-syndromic hearing loss in Western India
2010
·
Koumudi Godbole
, J. Hemavathi
, et al.
·
Indian Journal of Otolaryngology and Head & Neck Surgery
·
14
PDF
Many faces of Hirschsprung's disease.
2004
·
Koumudi Godbole
·
PubMed
·
14
Functional disomy of Xp: Prenatal findings and postnatal outcome
2005
·
E. Kolomietz
, K. Godbole
, et al.
·
American Journal of Medical Genetics Part A
·
13
Alazami syndrome: Report of three Indian patients with phenotypic spectrum from adolescence to adulthood
2021
·
Sweta Das
, Koumudi Godbole
, et al.
·
American Journal of Medical Genetics Part A
·
11
Development, validation and application of single molecule molecular inversion probe based novel integrated genetic screening method for 29 common lysosomal storage disorders in India
2024
·
Harsh Sheth
, Aadhira Nair
, et al.
·
Human Genomics
·
9
Maternal Serum Aneuploidy Screen and Adverse Pregnancy Outcomes
2016
·
Koumudi Godbole
, Aparna Kulkarni
, et al.
·
The Journal of Obstetrics and Gynecology of India
·
9
PDF
Prenatal Diagnosis of Lysosomal Storage Disorders by Enzymes Study Using Chorionic Villus and Amniotic Fluid
2014
·
Jayesh Sheth
, Mehul Mistri
, et al.
·
Journal of Fetal Medicine
·
9
PDF
Is germline transmission of MAD2 gene deletion associated with human fetal loss?
2012
·
S. Nath
, M. Moghe
, et al.
·
Molecular Human Reproduction
·
8
Johanson-blizzard syndrome.
2013
·
Koumudi Godbole
, Sukalo Maja
, et al.
·
PubMed
·
6
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Works count:
61
Citation count:
1,067
H-index:
15
I10-index:
20
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