Katherine A. Sitko

The paper introduces VIS-seq, an image-based method to assess variant effects on cellular phenotypes, revealing multidimensional variant impacts across different diseases.

The paper uses deep mutational scanning to analyze CYP2C19 variants, revealing a tradeoff between substrate specificity and protein abundance.

The paper characterizes CYP2C9 variant enzyme activity and abundance using Click-seq and VAMP-seq, finding that two-thirds of variants show decreased activity and abundance explains half the functional variation.

The paper measures the effects of VKOR variants on abundance and activity in human cells, revealing its topology, active site, and the impact of human variants.

The paper uses deep mutational scanning to analyze Aβ42 aggregation in yeast, identifying key residues and validating structural models.