Author

Amy C. Goldstein

Children's Hospital of PhiladelphiaORCID 0000-0001-6593-5905Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 2

Signature Assays, Organisms & Methods

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Organism:human· 2 Research Focus:benchmarking· 1 Research Focus:differential expression· 1 Assay:electronic health records· 1 Approach:experimental assay· 1 Assay:proteomics· 1 Approach:statistical model· 1

Frequent Co-Authors

Rebecca D. GanetzkyiD· 2 shared Aneal KhaniD· 1 shared April N. LehmaniD· 1 shared Arnaud Vincent VanlanderiD· 1 shared Austin A LarsoniD· 1 shared Bruce H. CoheniD· 1 shared Claudia Soler‐AlfonsoiD· 1 shared David M CassimaniD· 1 shared

Activity by Year

2025-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Rebecca D. GanetzkyORCID

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2 papers

Recent·Most cited

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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Genetic & Genomic MedicineGenetics in MedicinePeer-reviewedFeb 19, 2025

Recognizing the Evolution of Clinical Syndrome Spectrum Progression in Individuals with Single Large-Scale mitochondrial DNA deletion syndromes (SLSMDS)

Rebecca D. Ganetzky, Katelynn D. Stanley, Laura E. MacMullen…·Marni J. Falk

The paper characterizes the clinical progression of SLSMDS by analyzing electronic health records and identifies key genetic and clinical features associated with disease evolution.

10 citations

humanelectronic health records

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