Steven G. Kernie

This study finds that many critically ill children receive medications with established pharmacogenomic guidelines, but exome sequencing identifies actionable PGx variants that could improve treatment.

The paper investigates how traumatic brain injury (TBI) increases mitochondria-associated ER membranes (MAMs) and C99 levels, linking these changes to Alzheimer's disease (AD) through lipid metabolism alterations.

This study finds that children with critical illness and non-diagnostic whole exome sequencing may still carry risk variants in genes not previously associated with disease.