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Journal of Genetic Counseling|March 20, 2025
Understanding and issues related to next-generation sequencing among educated laypersons in IndiaArya Shambhavi, Amita Moirangthem, Prabhaker Mishra, et al.
Indian Journal of Pediatrics|June 19, 2023
Complex Hereditary Spastic Paraparesis Caused by de novo p.Arg480Ser in FAR1Arya Shambhavi, Amita Moirangthem, Manmohan Pandey, et al.
American Journal of Medical Genetics. Part A|December 22, 2025
A Case Report of PLXNA1-Related Dworschak-Punetha Neurodevelopmental Disorder With Pachygyria and PolymicrogyriaNiladri Das, Rajesh Kumar Maurya, Shubha R Phadke, et al.
Journal of Clinical and Experimental Hepatology|June 30, 2026
Corrigendum to "Nuances in ATP7B Genetic Testing and Interpretation in India" [J Clin Exp Hepatol 16 (1) (2026) 103205]Amresh K Mishra, Moinak Sen Sarma, Amita Moirangthem, et al.
Journal of Clinical and Experimental Hepatology|November 19, 2025
Nuances in ATP7B Genetic Testing and Interpretation in IndiaAmresh K Mishra, Moinak Sen Sarma, Amita Moirangthem, et al.
American Journal of Medical Genetics. Part A|August 5, 2025
Secondary Findings in a Research Cohort: Spectrum and the Indian PerspectivePooja Motwani, Rajesh K Maurya, Dhwoni, et al.
American Journal of Medical Genetics. Part A|October 14, 2020
Carrier frequency of SMN1-related spinal muscular atrophy in north Indian population: The need for population based screening programMayank Nilay, Amita Moirangthem, Deepti Saxena, et al.
European Journal of Medical Genetics|October 1, 2021
Novel pathogenic variants in an Indian cohort with epidermolysis bullosa: Expanding the genotypic spectrumMayank Nilay, Deepti Saxena, Kausik Mandal, et al.
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.
Clinical Genetics|April 30, 2025
Spectrum of Inherited Childhood-Onset Dystonia: Case Series of 19 Families With Genotype and Phenotype Characterization Highlighting the Treatable CausesNaik Adarsha, Arya Shambhavi, Haseena Sait, et al.
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