Peter C. Grayson

This study uses genomic ascertainment to determine the prevalence and clinical features of pathogenic UBA1 variants in a population-based cohort, finding higher prevalence and expressivity than previously reported.

MultiPLIER uses transfer learning from large public data to improve analysis of small rare disease datasets by capturing systemic biological features.

The paper identifies shared molecular pathways between ANCA-associated vasculitis and nephrotic syndrome, highlighting JAK-STAT signaling as a potential therapeutic target.