Author

Russell P. Saneto

Seattle Children's HospitalORCID 0000-0002-7250-2347Unclaimed 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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Approach:experimental assay· 2 Organism:human· 2 Research Focus:differential expression· 1 Assay:DNA methylation· 1 Assay:proteomics· 1 Research Focus:variant calling· 1

Frequent Co-Authors

Amy C. GoldsteiniD· 1 shared Andrew E. TimmsiD· 1 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 Christina M. LockwoodiD· 1 shared

Activity by Year

2021-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 24 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Amy C. GoldsteinORCID

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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

𝕏 PostBluesky

Genetic & Genomic MedicineBrainPeer-reviewedOct 6, 2021

Analysis of common PI3K-AKT-MTOR mutations in pediatric surgical epilepsy by droplet digital PCR reveals novel clinical and molecular insights

Filomena Pirozzi, Matthew Berkseth, Rylee Shear…·Ghayda Mirzaa

The paper uses ddPCR to analyze PI3K-AKT-MTOR mutations in pediatric epilepsy cases, finding associations between specific mutations and clinical phenotypes.

54 citationstop 1%

humanDNA methylation

𝕏 PostBluesky