Author

Samuel V. Douville

University of Toronto

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

Biology Disciplines

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Genetics· 2

Signature Assays, Organisms & Methods

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Approach:experimental assay· 2 Organism:human· 2 Research Focus:variant effect prediction· 2 Assay:proteomics· 1

Frequent Co-Authors

Anna AxakovaiD· 2 shared Atina G. CotéiD· 2 shared Frederick P. RothiD· 2 shared Jochen WeileiD· 2 shared M. Ding· 2 shared Marinella GebbiaiD· 2 shared Warren van LoggerenbergiD· 2 shared Adele A. Mitchell· 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 papersGenetics

Anna AxakovaORCID

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2 papers

Recent·Most cited

Systematic and proactive evaluation of AIRE missense variant effects

Anna Axakova, Amund Holte Berger, Warren van Loggerenberg, Nishka Kishore, Marinella Gebbia, M. Ding, Samuel V. Douville, Daniel R. Tabet, Atina G. Coté, Jochen Weile, Stefan Johansson, Eirik Bratland, Frederick P. Roth

This study proactively evaluates the functional effects of 9790 AIRE missense variants using a reporter assay, providing evidence for 70% of previously classified variants of uncertain significance.

The American Journal of Human Genetics · Aug 6, 2026Peer-reviewedGenetics

Landscapes of missense variant impact for human superoxide dismutase 1

Anna Axakova, M. Ding, Atina G. Coté, Radha Subramaniam, Vignesh Senguttuvan, Haotian Zhang, Jochen Weile, Samuel V. Douville, Marinella Gebbia, Ammar Al‐Chalabi, Alexander Wahl, Jason Reuter, Jessica A. Hurt, Adele A. Mitchell, Stephanie Fradette, , 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.

The American Journal of Human Genetics · Sep 16, 2025Peer-reviewedGenetics