Ulrike Hüffmeier

This study identifies genetic risk factors associated with severe psoriasis and shows that polygenic risk scores can predict severe disease outcomes better than traditional risk factors.

This study identifies truncating RELA variants causing autoinflammation and autoimmunity by disrupting NF-κB feedback control and immune homeostasis.

This study performs a GWAS meta-analysis of psoriasis, identifying 109 susceptibility loci, including 45 new ones, and highlights potential therapeutic targets and disease mechanisms.

The paper identifies MPO mutations as genetic determinants of pustular skin disease and increased neutrophil counts through exome sequencing and UK Biobank analysis.

The paper identifies and characterizes TUBA1A variants in 166 individuals with tubulinopathy, highlighting common phenotypes and genotype-phenotype associations.