Kristin A. Maloney

The paper evaluates penetrance and variable expressivity of monogenic metabolic conditions using exome data from 77,184 individuals, finding that monogenic variants have larger effect sizes than polygenic scores but low penetrance.

This study examines the association between pathogenic or likely pathogenic genetic variants in cardiomyopathy and arrhythmia genes and unexplained sudden cardiac death in adults with no gross pathological findings.