Author

Stephanie Fradette

Biogen (United States)ORCID 0009-0005-1807-1602Unclaimed 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· 1 Organism:human· 1 Assay:proteomics· 1 Research Focus:variant effect prediction· 1

Frequent Co-Authors

Adele A. Mitchell· 1 shared Alexander Wahl· 1 shared Ammar Al‐ChalabiiD· 1 shared Anna AxakovaiD· 1 shared Atina G. CotéiD· 1 shared Frederick P. RothiD· 1 shared Haotian ZhangiD· 1 shared Jason ReuteriD· 1 shared

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2025-2025 · peak 1/yr

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10 top collaborators · 45 mutual co-author links

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1 shared paperGenetics

Adele A. Mitchell

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1 paper

Recent·Most cited

GeneticsThe American Journal of Human GeneticsPeer-reviewedSep 16, 2025

Landscapes of missense variant impact for human superoxide dismutase 1

Anna Axakova, M. Ding, Atina G. Coté…·Frederick P. Roth

The paper measures the functional impact of over two thousand SOD1 missense variants using saturation mutagenesis and cell-based assays, reclassifying 41% of previously uncertain variants as pathogenic.

5 citations

humanproteomics

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