Rachel L. Powell

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

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 develops iPSC-SGE to assess variant effects in diverse genetic and cell contexts, identifying pathogenic variants and essential disease genes.

The paper introduces MultiSTEP, a method to assess variant effects in secreted proteins, and applies it to coagulation factor IX, identifying functional variants and reclassifying uncertain ones.

The paper uses deep mutational scanning to show that protein degradation and toxicity are tightly correlated in ASPA variants linked to Canavans disease.