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Gene|September 10, 2015
Chanarin Dorfman syndrome: a case report with novel nonsense mutationNeerja Gupta, Sunil Gothwal, Amit Kumar Satpathy, et al.Indian Pediatrics|April 1, 2016
ADRB2 Polymorphism and Salbutamol Responsiveness in Northern Indian Children with Mild to Moderate Exacerbation of AsthmaPuneet Kaur Sahi, Shivaram Shastri, Rakesh Lodha, et al.Journal of Child Neurology|May 2, 2009
Three novel variants in X-linked adrenoleukodystrophyPallavi Shukla, Neerja Gupta, Madhulika Kabra, et al.The National Medical Journal of India|May 13, 2011
Aetiology of global developmental delay in young children: experience from a tertiary care centre in IndiaAnurag Tikaria, Madhulika Kabra, Neerja Gupta, et al.European Journal of Medical Genetics|August 18, 2023
A report of 5 Indian families with multicentric carpotarsal osteolysis syndromeNeerja Gupta, Soumalya Chakraborty, Madhumita Roy Chowdhury, et al.BMC Pediatrics|April 6, 2018
A novel homozygous mutation in POLR3A gene causing 4H syndrome: a case reportVishal V Tewari, Ritu Mehta, C M Sreedhar, et al.The Indian Journal of Medical Research|September 2, 2017
Identification of a novel homozygous mutation in transmembrane channel like 1 (TMC1) gene, one of the second-tier hearing loss genes after GJB2 in IndiaPawan Kumar Singh, Manju Ghosh, Shipra Sharma, et al.American Journal of Medical Genetics. Part A|February 5, 2026
Phenotypic Spectrum of Neurofibromatosis Type 1 Patients in India and Low Prevalence of Microdeletions in NF1 GeneRavneet Kaur, Madhumita Roy Chowdhury, Sandeepa Chauhan, et al.Cytogenetic and Genome Research|September 10, 2015
Williams-Beuren Syndrome: Experience of 43 Patients and a Report of an Atypical Case from a Tertiary Care Center in IndiaPankaj Sharma, Neerja Gupta, Madhumita R Chowdhury, et al.Prenatal Diagnosis|July 24, 2021
Utility of fetal whole exome sequencing in the etiological evaluation and outcome of nonimmune hydrops fetalisAlec Reginald Errol Correa, Kamal Naini, Pallavi Mishra, et al.Pageof 20