The retina provides exquisitely sensitive vision that relies on the integrity of a uniquely
vulnerable cell, the photoreceptor (PR). The genetic and mechanistic causes of retinal …

The difficulty of identifying susceptibility genes for common diseases has polarized
geneticists' views on what disease models are appropriate and how best to proceed once …

The association of more than 140 genes with human photoreceptor degenerations, together
with studies of animal models of these monogenic diseases, has provided great insight into …

Plasma concentrations of total cholesterol, low-density lipoprotein cholesterol, high-density
lipoprotein cholesterol and triglycerides are among the most important risk factors for …

Chronic kidney disease (CKD) is a significant public health problem, and recent genetic
studies have identified common CKD susceptibility variants. The CKDGen consortium …

Estimating individual genome-wide autozygosity is important both in the identification of
recessive disease variants via homozygosity mapping and in the investigation of the effects …

Background Age-related macular degeneration is the most common cause of blindness in
Western populations. Susceptibility is influenced by age and by genetic and environmental …

Uric acid is the end product of purine metabolism in humans and great apes, which have lost
hepatic uricase activity, leading to uniquely high serum uric acid concentrations (200–500 …

Smoking is a leading global cause of disease and mortality. We established the Oxford-
GlaxoSmithKline study (Ox-GSK) to perform a genome-wide meta-analysis of SNP …

Pulmonary function measures are heritable traits that predict morbidity and mortality and
define chronic obstructive pulmonary disease (COPD). We tested genome-wide association …