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Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls
There is increasing evidence that genome-wide association (GWA) studies represent a powerful approach to the identification of genes involved in common human diseases. We describe a joint GWA studyExpand
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Association scan of 14,500 nonsynonymous SNPs in four diseases identifies autoimmunity variants
We have genotyped 14,436 nonsynonymous SNPs (nsSNPs) and 897 major histocompatibility complex (MHC) tag SNPs from 1,000 independent cases of ankylosing spondylitis (AS), autoimmune thyroid diseaseExpand
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Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls
Copy number variants (CNVs) account for a major proportion of human genetic polymorphism and have been predicted to have an important role in genetic susceptibility to common disease. To address thisExpand
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Sex-specific, male-line transgenerational responses in humans
Transgenerational effects of maternal nutrition or other environmental ‘exposures’ are well recognised, but the possibility of exposure in the male influencing development and health in the nextExpand
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Neural basis of an inherited speech and language disorder.
Investigation of the three-generation KE family, half of whose members are affected by a pronounced verbal dyspraxia, has led to identification of their core deficit as one involving sequentialExpand
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Localisation of a gene implicated in a severe speech and language disorder
TLDR
We have identified a region on chromosome 7 which co-segregates with the KE family, a large three-generation pedigree in which approximately half of the members are affected with a severe speech and language disorder which appears to be transmitted as an autosomal dominant monogenic trait. Expand
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A clinical and genetic study of campomelic dysplasia.
Campomelic dysplasia (CMD) is a rare skeletal disorder that is usually lethal. It is characterised by bowing of the lower limbs, severe respiratory distress, and many of the chromosomal (XY) malesExpand
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Localization of a type 1 diabetes locus in the IL2RA/CD25 region by use of tag single-nucleotide polymorphisms.
As part of an ongoing search for genes associated with type 1 diabetes (T1D), a common autoimmune disease, we tested the biological candidate gene IL2RA (CD25), which encodes a subunit (IL-2R alpha)Expand
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Associations with early-life socio-economic position in adult DNA methylation.
BACKGROUND Disadvantaged socio-economic position (SEP) in childhood is associated with increased adult mortality and morbidity. We aimed to establish whether childhood SEP was associated withExpand
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Association of the INS VNTR with size at birth
Size at birth is an important determinant of perinatal survival1 and has also been associated with the risk for cardiovascular disease and type 2 diabetes in adult life2. Common genetic variationExpand
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