Adam C. Gunning

The paper identifies clustering patterns of loss-of-function variants in monogenic disease genes, linking them to incomplete penetrance and suggesting localized constraint metrics for variant interpretation.

The paper identifies and functionally characterizes new ATAD3A variants in neurological disorders using exome sequencing and Drosophila models.

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.

This study uses in silico structural analysis to assess the impact of missense variants in MEN1, finding a stability threshold to predict pathogenicity.