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Ophthalmic Genetics|October 29, 2024
An unusual presentation of glaucoma in a neonate with Rubinstein-Taybi syndromeBrajesh Lahri, Renu Singh, Shikha Gupta, et al.Indian Journal of Pediatrics|September 12, 2023
Faces of Fibrodysplasia Ossificans Progressiva: Lessons from a Clinical MasqueraderAmbika Gupta, Puneeta Mishra, Madhumita Roy Chowdhury, et al.Indian Journal of Pediatrics|August 19, 2021
Physical Growth and Its Determinants in Indian Children with Down Syndrome, from 3 Months to 5 Years of AgeMandula Phani Priya, Neerja Gupta, Aditya Nagori, et al.Reproductive Biomedicine Online|May 19, 2015
Live births in women with recurrent hydatidiform mole and two NLRP7 mutationsElie Akoury, Neerja Gupta, Rashmi Bagga, et al.Journal of Pediatric Genetics|May 8, 2019
Report of Another Mutation Proven Case of Carbonic Anhydrase II DeficiencyAmit Kumar Satapathy, Swati Pandey, Madhumita Roy Chaudhary, et al.Prenatal Diagnosis|December 28, 2006
Prenatal diagnosis for a novel homozygous mutation in PKLR gene in an Indian familyNeerja Gupta, Paola Bianchi, Elisa Fermo, et al.Indian Journal of Pediatrics|May 4, 2024
The Great Masquerade: Varying Manifestations of Lysinuric Protein IntoleranceSoumalya Chakraborty, Ravneet Kaur, Bijoy Patra, et al.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.Pageof 20