Andrew H. Crosby

The paper investigates KPTN-related disorder using mouse and human stem cell models, identifying mTOR pathway dysregulation as a key mechanism underlying cognitive and overgrowth phenotypes.

The paper evaluates pathogenicity predictors using two clinically-relevant variant datasets, finding that newer meta-predictors outperform older tools but still have limited accuracy in clinical data.

The paper identifies epigenetic aging abnormalities in growth disorders caused by mutations in epigenetic regulatory molecules.