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Human Mutation|August 6, 2016
Novel Genetic, Clinical, and Pathomechanistic Insights into TFG-Associated Hereditary Spastic ParaplegiaGaurav V Harlalka, Meriel E McEntagart, Neerja Gupta, et al.American Journal of Medical Genetics. Part A|June 25, 2016
Spectrum of SMPD1 mutations in Asian-Indian patients with acid sphingomyelinase (ASM)-deficient Niemann-Pick diseasePrajnya Ranganath, Divya Matta, Gandham SriLakshmi Bhavani, et al.Journal of Human Genetics|July 12, 2020
Identification and characterization of 30 novel pathogenic variations in 69 unrelated Indian patients with Mucolipidosis Type II and Type IIIDivya Pasumarthi, Neerja Gupta, Jayesh Sheth, et al.American Journal of Human Genetics|July 7, 2009
Noncoding mutations of HGF are associated with nonsyndromic hearing loss, DFNB39Julie M Schultz, Shaheen N Khan, Zubair M Ahmed, et al.Journal of Proteins and Proteomics|November 2, 2020
A rapid and sensitive method to detect SARS-CoV-2 virus using targeted-mass spectrometryPraveen Singh, Rahul Chakraborty, Robin Marwal, et al.American Journal of Human Genetics|December 24, 2013
Mutations in CSPP1 lead to classical Joubert syndromeNaiara Akizu, Jennifer L Silhavy, Rasim Ozgur Rosti, et al.Human Genetics|July 10, 2012
Further characterization of ATP6V0A2-related autosomal recessive cutis laxaBjörn Fischer, Aikaterini Dimopoulou, Johannes Egerer, et al.HGG Advances|December 20, 2021
Transethnic analysis of psoriasis susceptibility in South Asians and Europeans enhances fine-mapping in the MHC and genomewidePhilip E Stuart, Lam C Tsoi, Rajan P Nair, et al.Human Mutation|July 17, 2021
Functional characterization of novel variants in SMPD1 in Indian patients with acid sphingomyelinase deficiencyDipti Deshpande, Shailesh Kumar Gupta, Asodu Sandeep Sarma, et al.Plos One|May 16, 2015
Genotype-Phenotype Correlations in CYP1B1-Associated Primary Congenital Glaucoma Patients Representing Two Large Cohorts from India and BrazilMônica Barbosa de Melo, Anil K Mandal, Ivan M Tavares, et al.Pageof 153