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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.Indian Journal of Pediatrics|June 8, 2012
Norrie disease: first mutation report and prenatal diagnosis in an Indian familyManju Ghosh, Shipra Sharma, Shivaram Shastri, et al.Journal of Pediatric Hematology/Oncology|February 26, 2021
A Novel Homozygous HAX1 Mutation in a Child With Cyclic Neutropenia: A Case Report and ReviewAnshula Tayal, Jagdish P Meena, Ravneet Kaur, et al.American Journal of Medical Genetics. Part A|April 2, 2022
Diverse clinical manifestations and intrafamilial variability due to an inherited recurrent MYRF variantNeerja Gupta, Mounika Endrakanti, Noopur Gupta, et al.Pageof 20