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The Indian Journal of Medical Research|November 28, 2009
Genetic predisposition of E-selectin gene (S128R) polymorphism in patients with coronary artery disease (CAD)Rajneesh Tripathi, Prabhat Kumar Singh, Satyendra Tewari, et al.
Indian Journal of Human Genetics|February 6, 2014
Mutation analysis of mitogen activated protein kinase 1 gene in Indian cases of 46,XY disorder of sex developmentDhanjit Kumar Das, Subodh G Rahate, Bhakti P Mehta, et al.
Prenatal Diagnosis|December 19, 2008
Prevention of homozygous beta thalassemia by premarital screening and prenatal diagnosis in IndiaParag M Tamhankar, Sarita Agarwal, Vandana Arya, et al.
Cureus|April 4, 2025
The First Known Case Report of a Novel Homozygous Nonsense Variant in the OSBPL9 Gene Associated With Fetal Cerebral Ventriculomegaly, Cerebellar Hypoplasia, and Arthrogryposis MultiplexParag M Tamhankar, Tushar Kachhadiya, Vasundhara Tamhankar, et al.
Cureus|November 27, 2024
A Chromosomal Microarray Detects Microdeletion at Chromosome Locus 11p14.3-p12 Leading to Wilms Tumor, Aniridia, Genitourinary Anomalies, and Mental Retardation (WAGR) SyndromeRenuka A Majjigudda, Pramila Menon, Supriya Gupte, et al.
Journal of Clinical Research in Pediatric Endocrinology|June 11, 2013
Identification of novel mutations in STAR gene in patients with lipoid congenital adrenal hyperplasia: a first report from IndiaLakshmi Vasudevan, Rajesh Joshi, Dhanjit Kumar Das, et al.
Human Mutation|October 18, 2014
Clinical applications and implications of common and founder mutations in Indian subpopulationsArunkanth Ankala, Parag M Tamhankar, C Alexander Valencia, et al.
Cureus|June 1, 2026
Resistant Epilepsy and Developmental Delay in a Syndromic Infant: A Case of Congenital Disorder of Glycosylation Type Ik From IndiaShambhavi Trivedi, Jyoti C Suvarna, Durga Patel, et al.
Plos One|June 23, 2012
Identification of novel mutations in HEXA gene in children affected with Tay Sachs disease from IndiaMehul Mistri, Parag M Tamhankar, Frenny Sheth, et al.
Cureus|December 19, 2025
Homozygous Nonsense Variant in the GJA4 Gene Associated With Increased Fetal Nuchal Fold Thickness and Abnormal Fetal Ductus Venosus Termination: A Case ReportBinodini Chauhan, Nilamben A Prajapati, Sneha Sagarkar, et al.
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