John P. Kemp

This study identifies 20 genetic loci associated with knee alignment and shows genetic correlation with knee osteoarthritis, suggesting osteoarthritis may causally influence alignment.

This study identifies 33 genetic variants associated with trabecular bone score (TBS) and finds a potential causal link between TBS and fracture risk independent of bone mineral density.

This study uses GWAS and Mendelian randomization to show that lower sclerostin levels increase risk of hypertension, type 2 diabetes, myocardial infarction, and atherogenic lipid profiles.

This study identifies genetic determinants of hip joint space width and finds they have opposing causal effects on hip osteoarthritis risk through distinct mechanisms.

The paper identifies genes involved in human bone disease by analyzing transcriptomic changes during zebrafish scale regeneration.

This study identifies 59 genome-wide significant loci for skull bone mineral density, including four novel loci, and links them to osteoporosis and craniofacial developmental defects.

The paper maps the osteocyte transcriptome in mice, identifies 1239 genes, and links them to skeletal disease susceptibility in humans.

This study identifies 48 genetic variants associated with handedness using a large GWAS, highlighting polygenic nature and genetic links to neuropsychiatric traits.

A rare SMAD9 mutation is linked to high bone mass, suggesting the BMP pathway as a potential osteoanabolic target.

This paper identifies 518 genetic loci associated with bone mineral density and fracture risk, validates causal genes in mice, and provides insights for osteoporosis drug development.

This paper uses machine learning to predict osteoporotic fracture risk from genotypes, finding that genomic predictions outperform clinical risk factors in identifying fracture risk.