Author

Smily Sharma

Sree Chitra Thirunal Institute for Medical Sciences and TechnologyORCID 0000-0003-3699-0272Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetics· 1

Signature Assays, Organisms & Methods

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Assay:DNA methylation· 1 Organism:human· 1 Approach:statistical model· 1 Research Focus:variant effect prediction· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Amoolya KandettuiD· 1 shared Arpan BhattacharyyaiD· 1 shared Benu Brata DasiD· 1 shared Budheswar DehuryiD· 1 shared Pranavi Hegde· 1 shared Rajalakshmi Poyuran· 1 shared Sanjiban ChakrabartyiD· 1 shared SK Nair· 1 shared

Activity by Year

2026-2026 · peak 1/yr

Co-Author Collaboration Network

9 top collaborators · 36 mutual co-author links

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1 shared paperGenetics

Amoolya KandettuORCID

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1 paper

Recent·Most cited

GeneticsbioRxivPreprintMay 20, 2026

Homozygous c.820G>A variant in MGME1 contributes to multi-systemic mitochondrial dysfunction in an Indian patient cohort

Pranavi Hegde, Amoolya Kandettu, Arpan Bhattacharyya…·Sanjiban Chakrabarty

This study identifies a homozygous MGME1 variant in an Indian cohort causing mitochondrial dysfunction through impaired mtDNA replication and repair.

DOI 10.64898/2026.05.18.725852

humanDNA methylation

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