Peter J. Conlon

The paper identifies recurrent mtDNA variants, particularly in the LSP2 promoter, as a cause of tubulointerstitial kidney disease in families with maternal inheritance.

This study uses long-read sequencing to characterize MUC1 VNTR variation in ADTKD-MUC1, identifying frameshift mutations and their association with disease progression.

This study finds that individuals with ADTKD-MUC1 have an eight-fold higher risk of COVID-19 mortality compared to ADTKD-UMOD individuals, possibly due to reduced mucin-1 production.

The paper identifies 88 novel rare disease-gene associations using a burden analysis framework on whole genome sequencing data from the 100,000 Genomes Project, with potential clinical impact for undiagnosed cases.

The paper identifies an intermediate-effect variant in UMOD associated with chronic kidney disease risk and shows it has reduced disease severity compared to canonical ADTKD mutations.