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Clinical Genetics|July 11, 2023
Mutation profile of Bardet-Biedl syndrome patients from India: Implicative role of multiallelic rare variants and oligogenic inheritance patternHarshavardhini Gnanasekaran, Sathya Priya Chandrasekhar, Suganya Kandeeban, et al.
Indian Journal of Pediatrics|July 10, 2026
Organic Acidemias in India: Clinical and Molecular SpectrumSunita Bijarnia-Mahay, Deepti Gupta, Ratna D Puri, et al.
Neurology. Genetics|May 2, 2019
Novel PNKP mutations causing defective DNA strand break repair and PARP1 hyperactivity in MCSZIlona Kalasova, Hana Hanzlikova, Neerja Gupta, et al.
Pediatric Neurology|May 11, 2011
Molecular genetic studies in Indian patients with megalencephalic leukoencephalopathyPallavi Shukla, Neerja Gupta, Manju Ghosh, et al.
Indian Journal of Pediatrics|October 19, 2024
Isolated Lateralized Overgrowth - Phenotypic Spectrum and Molecular AlterationsSakshi Yadav, R C Madhumita, Neerja Gupta, et al.
Pediatric Neurology|March 30, 2017
Cardiovascular Autonomic Dysfunction in Children and Adolescents With Rett SyndromeAjay Kumar, Ashok Jaryal, Sheffali Gulati, et al.
Journal of Human Genetics|August 8, 2019
Identification of novel variants in a large cohort of children with Tay-Sachs disease: An initiative of a multicentric task force on lysosomal storage disorders by Government of IndiaMehul Mistri, Sanjeev Mehta, Dhaval Solanki, et al.
Indian Pediatrics|February 16, 2020
Management of Infants with Congenital Adrenal HyperplasiaAashima Dabas, Pallavi Vats, Rajni Sharma, et al.
American Journal of Medical Genetics. Part A|March 27, 2014
Mutation spectrum of COL1A1 and COL1A2 genes in Indian patients with osteogenesis imperfectaJoshi Stephen, Anju Shukla, Ashwin Dalal, et al.
Indian Pediatrics|March 6, 2018
Diagnosis and Management of Gaucher Disease in India - Consensus Guidelines of the Gaucher Disease Task Force of the Society for Indian Academy of Medical Genetics and the Indian Academy of PediatricsRatna Dua Puri, Seema Kapoor, Priya S Kishnani, et al.
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