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Prenatal Diagnosis|May 28, 2025
Clinical Utility and Yield of Carrier Exome Sequencing in High-Risk Indian CouplesMounika Endrakanti, Sarath R S, Neerja Gupta, et al.
Annals of Human Genetics|March 3, 2021
Hydrops fetalis in PKD1L1-related heterotaxy: Report of two foetuses and expanding the phenotypic and molecular spectrumAlec Reginald Errol Correa, Mounika Endrakanti, Kamal Naini, et al.
Indian Journal of Pediatrics|July 7, 2023
Clinical and Molecular Spectrum of Patients with Methylmalonic AcidemiaNeerja Gupta, Mounika Endrakanti, Meenakshi Bhat, et al.
Practical Neurology|July 8, 2022
Late-onset cobalamin C disease: rare but treatableAminu Aliyar, Mounika Endrakanti, Rajesh K Singh, 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.
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.
Case Reports in Pediatrics|February 7, 2018
Right Internal Jugular Vein Phlebectasia: A Rare Cause of Neck SwellingDeepanjan Bhattacharya, Mounika Endrakanti, Rakesh Kumar
Indian Journal of Pediatrics|June 15, 2026
Position Statement of the Indian Academy of Medical Genetics on Next Generation Sequencing-Based Testing for Rare Genetic DisordersAnju Shukla, Sameer Bhatia, Mounika Endrakanti, et al.
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