Paul Phelan

Rare hereditary COL4A3/COL4A4 variants may be mistaken for familial focal segmental glomerulosclerosis

Kidney International · 2014 · 173 citations

Monoallelic IFT140 pathogenic variants are an important cause of the autosomal dominant polycystic kidney-spectrum phenotype

The American Journal of Human Genetics · 2022 · 152 citations