Stephanie J. Loomis

The paper identifies CFHR5 variants that reduce AMD risk by lowering FHR-5 levels and altering complement pathway activity.

The paper demonstrates the feasibility of conducting clinical recall studies from the FinnGen biobank to collect customized clinical data from participants with Alzheimer's disease or mild cognitive disorder.

This study identifies six genes associated with hand grip strength using rare protein-coding variants in 340,319 individuals and shows additive effects with common variants.

This study shows that higher genetic risk burden for multiple sclerosis is associated with earlier disease onset.

This study identifies 388 genetic associations with regional brain sulcal morphology using UK Biobank data, highlighting gene expression and eQTL patterns and providing a 3D visualization resource.

The paper describes exome sequencing of 200,643 UK Biobank participants, providing a rich resource of coding variants for genetic and drug discovery research.