Shelby L. Hemker

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.

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 maps the functional effects of MUTYH variants using deep mutational scanning and DNA repair reporters, resolving variants of uncertain significance and identifying risk-associated mutations.

The paper measures germline mutation rates in a family with MUTYH pathogenic variants, finding elevated C>A mutations in children of affected mothers but not fathers, suggesting maternal-specific mutator effects.