Matthew Hoare

The paper reports mutation rates and mutational signatures across 53 normal human cell types, revealing variation in mutation accumulation and identifying known and unknown mutational processes.

This study investigates how CIDEB loss-of-function mutations protect against fatty liver disease by enhancing β-oxidation through ATGL and PPARα activation.

The paper identifies convergent somatic escape variants in SERPINA1 in A1AT deficiency patients, showing adaptive mutations that counteract the disease-causing germline variant.