Author
University of TorontoORCID 0009-0007-5844-4367Unclaimed ORCID profile · follow to get notified of new preprints
3 papers
Recent·Most cited
Anna Axakova, Amund Holte Berger, Warren van Loggerenberg…·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.
Warren van Loggerenberg, Haotian Zhang, Vignesh Senguttuvan…·Frederick P. Roth
The paper systematically assesses the functional impact of CPOX variants under different environmental conditions, revealing mercury-dependent variant effects and improving variant classification.
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.