Author
University of TorontoORCID 0009-0009-9332-0831Unclaimed ORCID profile · follow to get notified of new preprints
3 papers
Recent·Most cited
Malvika Tejura, Y P Chen, Abbye E. McEwen…·Lea M. Starita
The paper develops a scalable workflow to reclassify variants of uncertain significance using experimental and predictive evidence, resolving 75% of VUS in 40 genes.
Daniel Zimmerman, Atina G. Coté, Warren van Loggerenberg…·Frederick P. Roth
This study functionally tests STK11 missense variants in mammalian cells, identifying pathogenic variants and providing insights for clinical interpretation.
Jessica Lacoste, Marzieh Haghighi, Shahan Haider…·Mikko Taipale
The paper develops a high-throughput imaging platform to assess the functional impact of missense variants on protein localization, finding that mislocalization is common in pathogenic variants.