Author

Kristen M. Wigby

University of California San DiegoORCID 0000-0001-8952-3534Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 3

Signature Assays, Organisms & Methods

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Research Focus:differential expression· 3 Organism:human· 3 Approach:experimental assay· 2 Assay:proteomics· 2 Approach:statistical model· 2 Research Focus:cell-cell communication· 1 Research Focus:gene regulatory network inference· 1

Frequent Co-Authors

Saskia Brigitte WortmanniD· 2 shared Alba Sanchis‐JuaniD· 1 shared Alexandrea F. Wadley· 1 shared Alice LepelleyiD· 1 shared Alyssa Gates· 1 shared Amy C. GoldsteiniD· 1 shared Amy McTagueiD· 1 shared Aneal KhaniD· 1 shared

Activity by Year

2020-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 24 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Saskia Brigitte WortmannORCID

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3 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 MedicinemedRxivPreprintApr 28, 2023

ARF1 prevents aberrant type I IFN induction by regulating STING activation and recycling

Maximilian Hirschenberger, Alice Lepelley, Ulrich Rupp…·Konstantin M. J. Sparrer

This study identifies ARF1 as a negative regulator of cGAS-STING signaling, showing it prevents type I IFN induction by regulating STING activation and recycling.

DOI 10.1101/2023.04.28.23289152

humanproteomics

𝕏 PostBluesky

Genetic & Genomic MedicineGenetics in MedicinePeer-reviewedDec 9, 2020

De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy

Chiara Klöckner, Heinrich Sticht, Pia Zacher…·Konrad Platzer

This study describes 20 individuals with de novo SNAP25 variants, identifying intellectual disability and early-onset epilepsy as core symptoms of SNAP25-DEE, with overlaps with other SNARE complex genes.

47 citations

humanstatistical model

𝕏 PostBluesky