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Birth Defects Research|December 13, 2023
Minimally invasive autopsy in the evaluation of fetal malformations and stillbirths: A feasibility studyNeerja Gupta, Nitika Langeh, Aparna Sharma, et al.JIMD Reports|January 18, 2015
Molecular Diagnosis of Hereditary Fructose Intolerance: Founder Mutation in a Community from IndiaSunita Bijarnia-Mahay, Sireesha Movva, Neerja Gupta, et al.Bone|May 21, 2013
Severe neuronopathic autosomal recessive osteopetrosis due to homozygous deletions affecting OSTM1Claus-Eric Ott, Björn Fischer, Phillipe Schröter, et al.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.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.Pageof 21