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Transcriptome and genome sequencing uncovers functional variation in humans
TLDR
Se sequencing and deep analysis of messenger RNA and microRNA from lymphoblastoid cell lines of 462 individuals from the 1000 Genomes Project—the first uniformly processed high-throughput RNA-sequencing data from multiple human populations with high-quality genome sequences discover extremely widespread genetic variation affecting the regulation of most genes. Expand
Genetic studies of body mass index yield new insights for obesity biology
TLDR
A genome-wide association study and Metabochip meta-analysis of body mass index (BMI), a measure commonly used to define obesity and assess adiposity, in up to 339,224 individuals provide strong support for a role of the central nervous system in obesity susceptibility. Expand
New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk
TLDR
It is demonstrated that genetic studies of glycemic traits can identify type 2 diabetes risk loci, as well as loci containing gene variants that are associated with a modest elevation in glucose levels but are not associated with overt diabetes. Expand
Large-scale association analysis provides insights into the genetic architecture and pathophysiology of type 2 diabetes
TLDR
A meta-analysis of genetic variants on the Metabochip, including 34,840 cases and 114,981 controls, finds a long tail of additional common variant loci explaining much of the variation in susceptibility to type 2 diabetes. Expand
Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis
TLDR
Moderate powered genome-wide association studies (GWAS) have enabled more than 20 additional risk loci to be identified and have shown that multiple variants exerting modest individual effects have a key role in disease susceptibility. Expand
Defining the role of common variation in the genomic and biological architecture of adult human height
TLDR
The results indicate a genetic architecture for human height that is characterized by a very large but finite number of causal variants, including mTOR, osteoglycin and binding of hyaluronic acid. Expand
Large-scale association analysis identifies new risk loci for coronary artery disease
TLDR
An association analysis in CAD cases and controls identifies 15 loci reaching genome-wide significance, taking the number of susceptibility loci for CAD to 46, and a further 104 independent variants strongly associated with CAD at a 5% false discovery rate (FDR). Expand
Association of systemic lupus erythematosus with C8orf13-BLK and ITGAM-ITGAX.
TLDR
The authors identified and then confirmed through replication two new genetic loci for SLE: a promoter-region allele associated with reduced expression of BLK and increased expression of C8orf13 and variants in the ITGAM-ITGAX region. Expand
Genome-wide association study identifies eight loci associated with blood pressure
Elevated blood pressure is a common, heritable cause of cardiovascular disease worldwide. To date, identification of common genetic variants influencing blood pressure has proven challenging. WeExpand
New genetic loci link adipose and insulin biology to body fat distribution
TLDR
A genome-wide association meta-analyses of traits related to waist and hip circumferences in up to 224,459 individuals implicated adipogenesis, angiogenesis, transcriptional regulation and insulin resistance as processes affecting fat distribution, providing insight into potential pathophysiological mechanisms. Expand
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