Matthew W. Snyder

The paper uses saturation genome editing to assess the functional impact of RAD51D and XRCC2 variants, showing high accuracy in distinguishing pathogenic from benign variants.

The paper recalibrates BAP1 MAVE data for different disease phenotypes to enable accurate variant classification across related disorders.

The paper develops a scalable workflow to reclassify variants of uncertain significance using experimental and predictive evidence, resolving 75% of VUS in 40 genes.

This paper maps 6,888 RAD51D variants to identify biochemical functions critical for homologous recombination and olaparib response, revealing key regions and mechanisms of variant impact.

The paper uses saturation genome editing to evaluate BARD1 variants, resolving most variants of uncertain significance and confirming their role in tumor suppression.

This study uses quantitative proteomics to analyze human and mouse gastruloids at four stages, revealing protein dynamics, discordance with transcriptomes, and gene networks linked to developmental defects.