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Journal of Human Genetics|December 8, 2017
Homozygosity for a nonsense variant in AIMP2 is associated with a progressive neurodevelopmental disorder with microcephaly, seizures, and spastic quadriparesisAnju Shukla, Aneek Das Bhowmik, Malavika Hebbar, et al.
Indian Journal of Pediatrics|December 18, 2015
Smith-Magenis Syndrome: Face SpeaksRekha Gupta, Neerja Gupta, Sheela Nampoothiri, et al.
American Journal of Medical Genetics. Part A|March 18, 2025
Correlation Between Neuronal Apoptosis Inhibitory Protein (NAIP), SMN2, and SMA Phenotypes: A Tertiary Care Centre Experience From IndiaSoumalya Chakraborty, Amita Singh, Shama Perveen, et al.
Gene|September 10, 2015
Chanarin Dorfman syndrome: a case report with novel nonsense mutationNeerja Gupta, Sunil Gothwal, Amit Kumar Satpathy, 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.
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