Patrick O’Brien

This paper investigates the protective effect of the LIG1 K845N variant in Huntington's disease by showing it increases ligase fidelity and suppresses somatic CAG repeat expansion.

This study shows that protamine PTMs create heterogeneous chromatin states in sperm, affecting fertility and chromatin integrity.

The paper identifies genetic and chemotherapeutic causes of germline hypermutation by analyzing genome-wide sequences of families with rare genetic diseases.