Martin R. Pollak

This study shows that a gain-of-function INF2 mutation causes FSGS in mice, linking INF2's cellular roles to disease progression and explaining its autosomal dominant inheritance.

The paper detects and classifies copy number variants in exome data from 6,633 families, identifying causal CNVs in 173 families and improving classification standards.

The paper shows the APOL1 p.N264K variant reduces the risk of FSGS and kidney disease in individuals with G2 APOL1 risk alleles.