Aimée M. Deaton

The paper identifies rare variants in CFHR5 associated with reduced risk of AMD and increased retinal thickness, suggesting CFHR5 as a therapeutic target.

The paper maps genetic associations with plasma proteins in 54,306 UK Biobank participants, identifying 10,248 new protein quantitative trait loci (pQTLs) and expanding the genetic architecture of the plasma proteome.

This study identifies a rare variant in SLC30A10 associated with elevated ALT/AST and hypermanganesemia symptoms, suggesting broader health impacts beyond diagnosed cases.

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

This study identifies a significant association between the V122I TTR variant and polyneuropathy in Black individuals, highlighting increased risk of hATTR amyloidosis manifestations.

The paper identifies GIGYF1 loss of function variants as associated with increased risk of type 2 diabetes and higher glucose/HbA1c levels in a large exome sequencing study.

The paper shows that genetic evidence linking drug targets to organ system phenotypes predicts clinical trial side effects in those systems.