Author

Ibrahim Elsharkawi

Icahn School of Medicine at Mount SinaiORCID 0000-0002-3930-7160Unclaimed ORCID profile · follow to get notified of new preprints

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Ibrahim Elsharkawi1 paper · Icahn School of Medicine

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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 Janhawi Kelkar· 1 shared Jaya GaneshiD· 1 shared Mohammad Ghouse SyediD· 1 shared Neil Jacob· 1 shared Rory James TinkeriD· 1 shared

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2026-2026 · peak 1/yr

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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

Genetic & Genomic MedicineJIMD ReportsPeer-reviewedJan 1, 2026

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

Rory James Tinker, Neil Jacob, Mohammad Ghouse Syed…·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.

DOI 10.1002/jmd2.70068

humanelectronic health records

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