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Journal of Clinical Research in Pediatric Endocrinology|June 17, 2014
Identification of novel ROR2 gene mutations in Indian children with Robinow syndromeParag M Tamhankar, Lakshmi Vasudevan, Shweta Kondurkar, et al.Journal of Genetics|February 1, 2023
Exome sequencing and microarray identified a novel large exonic deletion in SYT2 gene in an ultra-rare case with recessive CMS type 7C P Ravi Kumar, Parag M Tamhankar, Radhika Manohar, et al.Cureus|December 9, 2024
The First Case Report of a Homozygous Consensus Acceptor Splice Variant in the NUP214 Gene Associated With Fetal Hydrops and Arthrogryposis MultiplexVasundhara Tamhankar, Smit J Patel, Tushar Kachhadiya, et al.American Journal of Medical Genetics. Part A|June 18, 2026
Report of a Homozygous Nonsense Variant in the WDR91 Gene Associated With Severe Communicating Hydrocephalus, Dandy Walker Malformation, and Cerebellar HypoplasiaRhea Shriyan, Tushar Kachhadiya, Rishi Sharma, et al.European Journal of Medical Genetics|June 29, 2015
Lenz-Majewski syndrome: Report of a case with novel mutation in PTDSS1 geneParag M Tamhankar, Lakshmi Vasudevan, Vandana Bansal, et al.Indian Journal of Dermatology, Venereology and Leprology|January 9, 2015
Clinical profile and mutation analysis of xeroderma pigmentosum in Indian patientsParag M Tamhankar, Shruti V Iyer, Shyla Ravindran, et al.Cureus|February 16, 2026
Transient Neonatal Diabetes Mellitus Potentially Associated With a Novel Homozygous MS4A6A Gene Variant: A Case ReportSohrab Shakeel, Sandeep Kadam, Sameer Pawar, et al.Journal of Pediatric Genetics|September 10, 2021
Clinical Characteristics, Molecular Profile, and Outcomes in Indian Patients with Glutaric Aciduria Type 1Parag M Tamhankar, Lakshmi Vasudevan, Pratima Kondurkar, et al.Human Mutation|December 3, 2009
Molecular and clinical heterogeneity in CLCN7-dependent osteopetrosis: report of 20 novel mutationsAlessandra Pangrazio, Michael Pusch, Elena Caldana, et al.American Journal of Medical Genetics. Part A|September 25, 2014
GALNS mutations in Indian patients with mucopolysaccharidosis IVAAbdul Mueed Bidchol, Ashwin Dalal, Hitesh Shah, et al.Pageof 3