Renee C. Geck

The paper classifies G6PD variants using functional assays to identify clinically relevant variants and those unlikely to contribute to G6PD deficiency.

The paper improves G6PD variant interpretation using All of Us data and a yeast assay, identifying new variants and classifying some as non-pathogenic.

This study uses experimental evolution of S. cerevisiae to identify genetic factors contributing to caffeine tolerance, revealing roles for multidrug resistance and TOR signaling pathways.

The paper systematically profiles protein dynamics in ale yeast during fermentation and repitching, identifying changes in ergosterol and isobutyraldehyde metabolism.

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

The paper describes an at-home yeast experimental evolution protocol that selects for caffeine-tolerant mutations in S. cerevisiae, revealing genetic changes related to caffeine and TOR signaling.

The paper catalogs and interprets 1,341 G6PD variants, providing clinical interpretations for 400 variants and highlighting challenges in classification systems.