Christopher J. R. Loewen

The paper develops a yeast growth assay to assess the functional impact of ALDH5A1 variants linked to autism spectrum disorder, showing they range from loss of function to normal activity.

The paper assesses nine MECP2 variants in ASD using yeast and Drosophila assays, finding four as loss of function and five as functional, highlighting non-methyl DNA-binding roles.

This study shows that PAN2-PAN3 deadenylase activity is required for mitotic robustness under microtubule stress in yeast and human cells.

The paper introduces a new software tool, MAPS, that uses deep learning to analyze cell phenotypes from high-content microscopy, enabling rapid functional assessment of genetic variants.

The paper introduces a method to assess the functional impact of human disease gene variants using yeast-based assays.

The paper evaluates 106 PTEN variants using 18 assays across 5 models to identify molecular mechanisms of dysfunction, finding that stability and domain-specific assays are critical for accurate impact assessment.