PubRank

Rhian Gwilliam

Author PubWeight™ 356.01‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 A second generation human haplotype map of over 3.1 million SNPs. Nature 2007 85.39
2 Integrating common and rare genetic variation in diverse human populations. Nature 2010 32.30
3 Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease. Nat Genet 2008 30.20
4 New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk. Nat Genet 2010 17.89
5 Genome-wide detection and characterization of positive selection in human populations. Nature 2007 17.27
6 Common variants near MC4R are associated with fat mass, weight and risk of obesity. Nat Genet 2008 15.94
7 Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer's disease. Nat Genet 2009 15.15
8 Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis. Nature 2011 13.23
9 Association scan of 14,500 nonsynonymous SNPs in four diseases identifies autoimmunity variants. Nat Genet 2007 12.62
10 Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls. Nature 2010 12.27
11 Common variants at ABCA7, MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP are associated with Alzheimer's disease. Nat Genet 2011 9.23
12 A genome-wide association study for celiac disease identifies risk variants in the region harboring IL2 and IL21. Nat Genet 2007 8.50
13 A genotype calling algorithm for the Illumina BeadArray platform. Bioinformatics 2007 8.03
14 Newly identified genetic risk variants for celiac disease related to the immune response. Nat Genet 2008 7.63
15 Genome-wide association analysis identifies 13 new risk loci for schizophrenia. Nat Genet 2013 7.44
16 The DNA sequence of the human X chromosome. Nature 2005 6.97
17 Multiple common variants for celiac disease influencing immune gene expression. Nat Genet 2010 6.90
18 A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium. Nat Genet 2009 6.31
19 Interaction between ERAP1 and HLA-B27 in ankylosing spondylitis implicates peptide handling in the mechanism for HLA-B27 in disease susceptibility. Nat Genet 2011 5.56
20 Genetic determinants of ulcerative colitis include the ECM1 locus and five loci implicated in Crohn's disease. Nat Genet 2008 4.96
21 Genome-wide association study of ulcerative colitis identifies three new susceptibility loci, including the HNF4A region. Nat Genet 2009 4.61
22 Genome-wide and fine-resolution association analysis of malaria in West Africa. Nat Genet 2009 4.30
23 Meta-analysis of genome-wide scans for human adult stature identifies novel Loci and associations with measures of skeletal frame size. PLoS Genet 2009 4.24
24 Novel loci for adiponectin levels and their influence on type 2 diabetes and metabolic traits: a multi-ethnic meta-analysis of 45,891 individuals. PLoS Genet 2012 3.21
25 IL23R variation determines susceptibility but not disease phenotype in inflammatory bowel disease. Gastroenterology 2007 2.97
26 Genetic evidence implicates the immune system and cholesterol metabolism in the aetiology of Alzheimer's disease. PLoS One 2010 2.57
27 Investigation of Crohn's disease risk loci in ulcerative colitis further defines their molecular relationship. Gastroenterology 2008 2.17
28 Transcript-specific, single-nucleotide polymorphism discovery and linkage analysis in hexaploid bread wheat (Triticum aestivum L.). Plant Biotechnol J 2011 2.13
29 A genome-wide association search for type 2 diabetes genes in African Americans. PLoS One 2012 1.72
30 Abdominal aortic aneurysm is associated with a variant in low-density lipoprotein receptor-related protein 1. Am J Hum Genet 2011 1.60
31 Common genetic variation near the phospholamban gene is associated with cardiac repolarisation: meta-analysis of three genome-wide association studies. PLoS One 2009 1.28
32 Novel mutations in the ZEB1 gene identified in Czech and British patients with posterior polymorphous corneal dystrophy. Hum Mutat 2007 1.23
33 Population genetic analysis of Plasmodium falciparum parasites using a customized Illumina GoldenGate genotyping assay. PLoS One 2011 1.13
34 Gamma-glutamyl carboxylase (GGCX) microsatellite and warfarin dosing. Blood 2005 1.07
35 Discovery and development of exome-based, co-dominant single nucleotide polymorphism markers in hexaploid wheat (Triticum aestivum L.). Plant Biotechnol J 2012 1.05
36 Immunohistochemical characterization of cytokeratins in the abnormal corneal endothelium of posterior polymorphous corneal dystrophy patients. Exp Eye Res 2006 1.05
37 The role of variation at AβPP, PSEN1, PSEN2, and MAPT in late onset Alzheimer's disease. J Alzheimers Dis 2012 1.02
38 A variant in LDLR is associated with abdominal aortic aneurysm. Circ Cardiovasc Genet 2013 1.00
39 Molecular analysis of the VSX1 gene in familial keratoconus. Mol Vis 2007 1.00
40 Powerful identification of cis-regulatory SNPs in human primary monocytes using allele-specific gene expression. PLoS One 2012 0.98
41 Genetic determinants of major blood lipids in Pakistanis compared with Europeans. Circ Cardiovasc Genet 2010 0.95
42 Linkage disequilibrium mapping of the replicated type 2 diabetes linkage signal on chromosome 1q. Diabetes 2009 0.95
43 Transferrin and HFE genes interact in Alzheimer's disease risk: the Epistasis Project. Neurobiol Aging 2010 0.93
44 High prevalence of posterior polymorphous corneal dystrophy in the Czech Republic; linkage disequilibrium mapping and dating an ancestral mutation. PLoS One 2012 0.90
45 Replication by the Epistasis Project of the interaction between the genes for IL-6 and IL-10 in the risk of Alzheimer's disease. J Neuroinflammation 2009 0.89
46 The dopamine β-hydroxylase -1021C/T polymorphism is associated with the risk of Alzheimer's disease in the Epistasis Project. BMC Med Genet 2010 0.88
47 Mosaic 22q13 deletions: evidence for concurrent mosaic segmental isodisomy and gene conversion. Eur J Hum Genet 2008 0.87
48 Observational study on variability between biobanks in the estimation of DNA concentration. BMC Res Notes 2009 0.78
49 The mei3 region of the Schizosaccharomyces pombe genome. Yeast 2002 0.75
50 Genomic organization of human CDS2 and evaluation as a candidate gene for corneal hereditary endothelial dystrophy 2 on chromosome 20p13. Exp Eye Res 2002 0.75