Bone mineral density (BMD) is the most widely used predictor of fracture risk. We performed
the largest meta-analysis to date on lumbar spine and femoral neck BMD, including 17 …

The extent to which low‐frequency (minor allele frequency (MAF) between 1–5%) and rare (MAF
≤ 1%) variants contribute to complex traits and disease in the general population is …

We report a genome-wide association study for open-angle glaucoma (OAG) blindness
using a discovery cohort of 590 individuals with severe visual field loss (cases) and 3,956 …

We aimed to identify genetic variants associated with cortical bone thickness (CBT) and
bone mineral density (BMD) by performing two separate genome-wide association study (GWAS…

Ankylosing spondylitis (AS) is a common, highly heritable, inflammatory arthritis for which
HLA-B*27 is the major genetic risk factor, although its role in the aetiology of AS remains …

Osteoporotic fracture is a major cause of morbidity and mortality worldwide. Low bone mineral
density (BMD) is a major predisposing factor to fracture and is known to be highly heritable…

Background Congenital malformations can be manifested as combinations of phenotypes
that co-occur more often than expected by chance. In many such cases, it has proved difficult …

Intraflagellar transport (IFT) depends on two evolutionarily conserved modules,
subcomplexes A (IFT-A) and B (IFT-B), to drive ciliary assembly and maintenance. All six IFT-A …

Elevated intraocular pressure (IOP) is an important risk factor in developing glaucoma, and
variability in IOP might herald glaucomatous development or progression. We report the …

Mitochondrial dysfunction plays a central role in the selective vulnerability of dopaminergic
neurons in Parkinson's disease (PD) and is influenced by both environmental and genetic …