Murray J. Cadzow

A population-specific missense variant rs1597000001 in CETP promotes a favorable lipid profile and reduces CETP activity.

The paper identifies a population-specific missense variant in CETP that lowers CETP activity and improves lipid profile, similar to loss-of-function mutations.

Pleiotropic effect of ABCG2 in gout: involvement in serum urate levels and progression from hyperuricemia to gout

This study investigates the role of ABCG2 variants in gout progression from hyperuricemia, finding a stronger association with gout than with urate levels.

Genomic dissection of 43 serum urate-associated loci provides multiple insights into molecular mechanisms of urate control.

This paper identifies 15 novel serum urate loci and links them to 44 genes, revealing new molecular mechanisms of urate control through genomic and eQTL analysis.

Copy number variants implicate cardiac function and development pathways in earthquake-induced stress cardiomyopathy

The paper identifies a high rate of rare copy number variants in women with earthquake-induced stress cardiomyopathy, suggesting potential genetic predisposition.