Nicole Lehmann

The paper evaluates the performance of in silico tools in classifying PKD1 missense variants as pathogenic or benign, finding most are classified as VUS and tools lack reliability.

The paper identifies rare RELA variants in autoimmune diseases and shows they affect NF-κB and IFNβ transcriptional activity and immune cell subsets.

The paper quantifies how functionally constrained human proteins are less affected by stability-disrupting missense mutations and shows their depletion of extreme stability-changing variants in disease-free populations.