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The Indian Journal of Radiology & Imaging|May 1, 2023
Impact of Structured Reporting of Skeletal Survey in Skeletal Dysplasia: A Single Institution ExperienceAmit Gupta, Neerja Gupta, Madhulika Kabra, et al.
Indian Pediatrics|February 12, 2018
Molecular Testing of MECP2 Gene in Rett Syndrome Phenotypes in Indian GirlsMeenakshi Lallar, Archana Rai, Priyanka Srivastava, et al.
Gene|June 14, 2016
Application of chromosomal microarrays in the evaluation of intellectual disability/global developmental delay patients - A study from a tertiary care genetic centre in IndiaPankaj Sharma, Neerja Gupta, Madhumita Roy Chowdhury, et al.
Journal of Perinatal Medicine|December 12, 2024
Exploring the safety and diagnostic utility of amniocentesis after 24 weeks of gestation: a retrospective analysisTanisha Gupta, Vatsla Dadhwal, Anubhuti Rana, et al.
Birth Defects Research|November 23, 2016
Prevalence of neural tube defects in a rural area of north india from 2001 to 2014: A population-based surveyShashi Kant, Sumit Malhotra, Arvind Kumar Singh, et al.
Indian Journal of Pediatrics|October 9, 2024
Clinico-Radiological and Genotypic Spectrum of Nuclear MitochondriopathiesNeerja Gupta, Bhawana Aggarwal, Anushree Mishra, et al.
Clinical Genetics|January 12, 2023
Mosaic variegated aneuploidy syndrome 2 with biallelic novel CEP57 splice site variation in Indian siblings: Expanding the clinical and molecular spectrumNitika Langeh, Sumedha Saluja, Abdul Samath Ethayathulla, et al.
American Journal of Medical Genetics. Part A|April 3, 2024
ECEL1 related distal arthrogryposis 5D in an Indian cohort-Report of recognizable musculoskeletal phenotype and a possible founder variantMounika Endrakanti, Jyoti Sharma, Abdul S Ethayathulla, et al.
Prenatal Diagnosis|September 11, 2025
Genomic Exploration of Severe Mendelian Developmental Anomalies: Insights From Exome Sequencing Analyses in a Large Indian CohortNeerja Gupta, Mounika Endrakanti, Rohit Sadanand, et al.
European Journal of Medical Genetics|June 13, 2021
A patient with POLA1 splice variant expands the yet evolving phenotype of Van Esch O'Driscoll syndromeMounika Endrakanti, Sumedha Saluja, Abdul S Ethayathulla, et al.
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