Author

Janhawi Kelkar

Icahn School of Medicine at Mount Sinai

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

Biology Disciplines

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Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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Research Focus:benchmarking· 1 Assay:electronic health records· 1 Organism:human· 1 Approach:statistical model· 1

Frequent Co-Authors

Bruce D. GelbiD· 1 shared Colleen M. DonnellyiD· 1 shared Éva MoravaiD· 1 shared Ibrahim ElsharkawiiD· 1 shared Jaya GaneshiD· 1 shared Mohammad Ghouse SyediD· 1 shared Neil Jacob· 1 shared Rory James TinkeriD· 1 shared

Activity by Year

2026-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Bruce D. GelbORCID

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1 paper

Recent·Most cited

Drivers of Diagnostic Delay in Mitochondrial Disease: Missed Recognition of Canonical Features

Rory James Tinker, Neil Jacob, Mohammad Ghouse Syed, Janhawi Kelkar, Colleen M. Donnelly, Ibrahim Elsharkawi, Jaya Ganesh, Bruce D. Gelb, Vikas Rao Pejaver, Tamás Kozicz, Éva Morava

This study identifies diagnostic delay in mitochondrial disease as primarily due to missed recognition of canonical features, not testing limitations, and suggests AI/NLP tools for earlier detection.

JIMD Reports · Jan 1, 2026Peer-reviewedGenetic & Genomic Medicine