Author

Emily Shelkowitz

University of WashingtonORCID 0000-0003-1911-1846Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Approach:experimental assay· 2 Organism:human· 2 Assay:clinical cohort / trial· 1 Research Focus:differential expression· 1 Research Focus:host-pathogen & immune response· 1 Assay:proteomics· 1

Frequent Co-Authors

Austin A LarsoniD· 2 shared Johan L.K. Van HoveiD· 2 shared Rebecca D. GanetzkyiD· 2 shared A. Micheil Innes· 1 shared Aaina Kochhar· 1 shared Amy C. GoldsteiniD· 1 shared Andrea Cortes Fernandez· 1 shared Aneal KhaniD· 1 shared

Activity by Year

2026-2026 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 33 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Austin A LarsonORCID

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2 papers

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintNov 5, 2026

A multi-center retrospective chart analysis identifying clinical, biochemical, and radiographic signatures of short-chain enoyl-CoA hydratase (ECHS1) deficiency

Christine Kong, Cesar Alves, George-Friedrich Vogel…·Rebecca D Ganetzky

This study identifies clinical, biochemical, and radiographic features of ECHS1 deficiency through a multi-center retrospective analysis of 113 patients, highlighting differences in onset and outcomes across age groups.

DOI 10.64898/2026.11.05.26366953

humanclinical cohort / trial

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Genetic & Genomic MedicinemedRxivPreprintJun 15, 2026

The clinical utility of functional testing in fibroblasts to diagnose primary mitochondrial disease

Johan L.K. Van Hove, Marisa W. Friederich, Roxanne A. Van Hove…·Jennifer H. Yang

Four mitochondrial functional tests in fibroblasts show good sensitivity and excellent specificity for diagnosing primary mitochondrial disease.

1 citation

humanproteomics

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