PubRank

Mark I McCarthy

Author PubWeight™ 929.03‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Finding the missing heritability of complex diseases. Nature 2009 67.95
2 A common variant in the FTO gene is associated with body mass index and predisposes to childhood and adult obesity. Science 2007 37.88
3 Meta-analysis of genome-wide association data and large-scale replication identifies additional susceptibility loci for type 2 diabetes. Nat Genet 2008 35.06
4 Replication of genome-wide association signals in UK samples reveals risk loci for type 2 diabetes. Science 2007 32.97
5 Biological, clinical and population relevance of 95 loci for blood lipids. Nature 2010 28.21
6 Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index. Nat Genet 2010 23.08
7 Six new loci associated with body mass index highlight a neuronal influence on body weight regulation. Nat Genet 2008 22.35
8 Hundreds of variants clustered in genomic loci and biological pathways affect human height. Nature 2010 20.01
9 New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk. Nat Genet 2010 17.89
10 Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis. Nat Genet 2010 16.96
11 Genome-wide association analysis identifies 20 loci that influence adult height. Nat Genet 2008 16.92
12 Common variants near MC4R are associated with fat mass, weight and risk of obesity. Nat Genet 2008 15.94
13 Five years of GWAS discovery. Am J Hum Genet 2012 12.97
14 Association scan of 14,500 nonsynonymous SNPs in four diseases identifies autoimmunity variants. Nat Genet 2007 12.62
15 Genome-wide association study identifies eight loci associated with blood pressure. Nat Genet 2009 12.44
16 Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts. Nat Genet 2008 12.32
17 Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls. Nature 2010 12.27
18 Genome-wide association analysis of metabolic traits in a birth cohort from a founder population. Nat Genet 2008 12.07
19 Large-scale association analysis provides insights into the genetic architecture and pathophysiology of type 2 diabetes. Nat Genet 2012 11.09
20 Variants in MTNR1B influence fasting glucose levels. Nat Genet 2008 10.85
21 Common genetic determinants of vitamin D insufficiency: a genome-wide association study. Lancet 2010 8.89
22 Transcriptome and genome sequencing uncovers functional variation in humans. Nature 2013 8.89
23 Large-scale association studies of variants in genes encoding the pancreatic beta-cell KATP channel subunits Kir6.2 (KCNJ11) and SUR1 (ABCC8) confirm that the KCNJ11 E23K variant is associated with type 2 diabetes. Diabetes 2003 8.19
24 Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution. Nat Genet 2010 7.94
25 A large-scale genome-wide association study of Asian populations uncovers genetic factors influencing eight quantitative traits. Nat Genet 2009 7.65
26 Large-scale association analysis identifies new risk loci for coronary artery disease. Nat Genet 2012 7.59
27 Genome-wide association analysis identifies 13 new risk loci for schizophrenia. Nat Genet 2013 7.44
28 Concept, design and implementation of a cardiovascular gene-centric 50 k SNP array for large-scale genomic association studies. PLoS One 2008 7.16
29 Mapping cis- and trans-regulatory effects across multiple tissues in twins. Nat Genet 2012 6.97
30 A common variant of HMGA2 is associated with adult and childhood height in the general population. Nat Genet 2007 6.87
31 Genetic variation in GIPR influences the glucose and insulin responses to an oral glucose challenge. Nat Genet 2010 6.66
32 Sequence variants at CHRNB3-CHRNA6 and CYP2A6 affect smoking behavior. Nat Genet 2010 6.49
33 Genome-wide association study for early-onset and morbid adult obesity identifies three new risk loci in European populations. Nat Genet 2009 6.39
34 The metabochip, a custom genotyping array for genetic studies of metabolic, cardiovascular, and anthropometric traits. PLoS Genet 2012 6.15
35 Age-related clonal hematopoiesis associated with adverse outcomes. N Engl J Med 2014 6.12
36 The architecture of gene regulatory variation across multiple human tissues: the MuTHER study. PLoS Genet 2011 5.95
37 Genome-wide association scan meta-analysis identifies three Loci influencing adiposity and fat distribution. PLoS Genet 2009 5.81
38 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
39 Conditional and joint multiple-SNP analysis of GWAS summary statistics identifies additional variants influencing complex traits. Nat Genet 2012 5.55
40 eVOC: a controlled vocabulary for unifying gene expression data. Genome Res 2003 5.41
41 Genetic Loci associated with C-reactive protein levels and risk of coronary heart disease. JAMA 2009 5.32
42 Metabolic profiling reveals a contribution of gut microbiota to fatty liver phenotype in insulin-resistant mice. Proc Natl Acad Sci U S A 2006 5.19
43 Meta-analysis of 28,141 individuals identifies common variants within five new loci that influence uric acid concentrations. PLoS Genet 2009 4.97
44 Assessment of cumulative evidence on genetic associations: interim guidelines. Int J Epidemiol 2007 4.96
45 Genomic inflation factors under polygenic inheritance. Eur J Hum Genet 2011 4.89
46 A genome-wide association study identifies protein quantitative trait loci (pQTLs). PLoS Genet 2008 4.75
47 Large-scale association analyses identify new loci influencing glycemic traits and provide insight into the underlying biological pathways. Nat Genet 2012 4.73
48 Genome-wide association study of ulcerative colitis identifies three new susceptibility loci, including the HNF4A region. Nat Genet 2009 4.61
49 Assessing the combined impact of 18 common genetic variants of modest effect sizes on type 2 diabetes risk. Diabetes 2008 4.57
50 Meta-analysis of genome-wide association studies identifies eight new loci for type 2 diabetes in east Asians. Nat Genet 2011 4.50
51 Common variants near ATM are associated with glycemic response to metformin in type 2 diabetes. Nat Genet 2010 4.42
52 A genome-wide approach accounting for body mass index identifies genetic variants influencing fasting glycemic traits and insulin resistance. Nat Genet 2012 4.37
53 Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility. Nat Genet 2014 4.13
54 Genome-wide association study identifies multiple loci influencing human serum metabolite levels. Nat Genet 2012 4.08
55 Common variants at 10 genomic loci influence hemoglobin A₁(C) levels via glycemic and nonglycemic pathways. Diabetes 2010 4.07
56 Epigenome-wide scans identify differentially methylated regions for age and age-related phenotypes in a healthy ageing population. PLoS Genet 2012 4.05
57 Coding Variation in ANGPTL4, LPL, and SVEP1 and the Risk of Coronary Disease. N Engl J Med 2016 3.88
58 Identification of seven loci affecting mean telomere length and their association with disease. Nat Genet 2013 3.87
59 Evaluation of common variants in the six known maturity-onset diabetes of the young (MODY) genes for association with type 2 diabetes. Diabetes 2007 3.84
60 Association analysis of 6,736 U.K. subjects provides replication and confirms TCF7L2 as a type 2 diabetes susceptibility gene with a substantial effect on individual risk. Diabetes 2006 3.79
61 Common variation in the FTO gene alters diabetes-related metabolic traits to the extent expected given its effect on BMI. Diabetes 2008 3.76
62 Combining information from common type 2 diabetes risk polymorphisms improves disease prediction. PLoS Med 2006 3.75
63 Genetic loci influencing kidney function and chronic kidney disease. Nat Genet 2010 3.75
64 No evidence of association of ENPP1 variants with type 2 diabetes or obesity in a study of 8,089 U.K. Caucasians. Diabetes 2006 3.58
65 Common variants in WFS1 confer risk of type 2 diabetes. Nat Genet 2007 3.58
66 Significant linkage of BMI to chromosome 10p in the U.K. population and evaluation of GAD2 as a positional candidate. Diabetes 2006 3.51
67 Regulation of Fto/Ftm gene expression in mice and humans. Am J Physiol Regul Integr Comp Physiol 2008 3.49
68 Genome-wide association study in individuals of South Asian ancestry identifies six new type 2 diabetes susceptibility loci. Nat Genet 2011 3.46
69 What makes a good genetic association study? Lancet 2005 3.46
70 Type 2 diabetes: new genes, new understanding. Trends Genet 2008 3.35
71 Dissection of the genetics of Parkinson's disease identifies an additional association 5' of SNCA and multiple associated haplotypes at 17q21. Hum Mol Genet 2010 3.34
72 Bayesian refinement of association signals for 14 loci in 3 common diseases. Nat Genet 2012 3.31
73 Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture. Nat Genet 2013 3.25
74 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
75 Two new Loci for body-weight regulation identified in a joint analysis of genome-wide association studies for early-onset extreme obesity in French and german study groups. PLoS Genet 2010 3.21
76 Identification of an imprinted master trans regulator at the KLF14 locus related to multiple metabolic phenotypes. Nat Genet 2011 3.20
77 Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma. Nat Genet 2011 3.18
78 The fat mass- and obesity-associated locus and dietary intake in children. Am J Clin Nutr 2008 3.18
79 Research capacity. Enabling the genomic revolution in Africa. Science 2014 3.05
80 Common variants associated with plasma triglycerides and risk for coronary artery disease. Nat Genet 2013 2.92
81 Interrogating type 2 diabetes genome-wide association data using a biological pathway-based approach. Diabetes 2009 2.85
82 Sex-stratified genome-wide association studies including 270,000 individuals show sexual dimorphism in genetic loci for anthropometric traits. PLoS Genet 2013 2.83
83 FTO genotype is associated with phenotypic variability of body mass index. Nature 2012 2.77
84 Common variants of the novel type 2 diabetes genes CDKAL1 and HHEX/IDE are associated with decreased pancreatic beta-cell function. Diabetes 2007 2.73
85 Causal relationship between obesity and vitamin D status: bi-directional Mendelian randomization analysis of multiple cohorts. PLoS Med 2013 2.73
86 Mosaic PPM1D mutations are associated with predisposition to breast and ovarian cancer. Nature 2012 2.66
87 An evaluation of HapMap sample size and tagging SNP performance in large-scale empirical and simulated data sets. Nat Genet 2005 2.66
88 A genome-wide association meta-analysis identifies new childhood obesity loci. Nat Genet 2012 2.60
89 Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus. Nature 2011 2.59
90 Detailed physiologic characterization reveals diverse mechanisms for novel genetic Loci regulating glucose and insulin metabolism in humans. Diabetes 2010 2.44
91 Global analysis of DNA methylation variation in adipose tissue from twins reveals links to disease-associated variants in distal regulatory elements. Am J Hum Genet 2013 2.40
92 Stratifying type 2 diabetes cases by BMI identifies genetic risk variants in LAMA1 and enrichment for risk variants in lean compared to obese cases. PLoS Genet 2012 2.34
93 Variants in ADCY5 and near CCNL1 are associated with fetal growth and birth weight. Nat Genet 2010 2.30
94 Human β cell transcriptome analysis uncovers lncRNAs that are tissue-specific, dynamically regulated, and abnormally expressed in type 2 diabetes. Cell Metab 2012 2.22
95 Genome-wide association identifies nine common variants associated with fasting proinsulin levels and provides new insights into the pathophysiology of type 2 diabetes. Diabetes 2011 2.21
96 Genome-wide association study identifies variants in TMPRSS6 associated with hemoglobin levels. Nat Genet 2009 2.19
97 Casting a wider net for diabetes susceptibility genes. Nat Genet 2008 2.19
98 Exploring the developmental overnutrition hypothesis using parental-offspring associations and FTO as an instrumental variable. PLoS Med 2008 2.16
99 Rare MTNR1B variants impairing melatonin receptor 1B function contribute to type 2 diabetes. Nat Genet 2012 2.15
100 Early life factors and blood pressure at age 31 years in the 1966 northern Finland birth cohort. Hypertension 2004 2.14
101 A bivariate genome-wide approach to metabolic syndrome: STAMPEED consortium. Diabetes 2011 2.09
102 PASSIM--an open source software system for managing information in biomedical studies. BMC Bioinformatics 2007 2.04
103 Variation in TCF7L2 influences therapeutic response to sulfonylureas: a GoDARTs study. Diabetes 2007 2.03
104 Remapping the insulin gene/IDDM2 locus in type 1 diabetes. Diabetes 2004 2.02
105 Genome-wide association and genetic functional studies identify autism susceptibility candidate 2 gene (AUTS2) in the regulation of alcohol consumption. Proc Natl Acad Sci U S A 2011 2.01
106 Improved detection of common variants associated with schizophrenia by leveraging pleiotropy with cardiovascular-disease risk factors. Am J Hum Genet 2013 1.96
107 Systematic assessment of etiology in adults with a clinical diagnosis of young-onset type 2 diabetes is a successful strategy for identifying maturity-onset diabetes of the young. Diabetes Care 2012 1.95
108 Integrated genetic and epigenetic analysis identifies haplotype-specific methylation in the FTO type 2 diabetes and obesity susceptibility locus. PLoS One 2010 1.93
109 New loci associated with birth weight identify genetic links between intrauterine growth and adult height and metabolism. Nat Genet 2012 1.90
110 Genetic determinants of height growth assessed longitudinally from infancy to adulthood in the northern Finland birth cohort 1966. PLoS Genet 2009 1.89
111 The human pancreatic islet transcriptome: expression of candidate genes for type 1 diabetes and the impact of pro-inflammatory cytokines. PLoS Genet 2012 1.88
112 A genome-wide metabolic QTL analysis in Europeans implicates two loci shaped by recent positive selection. PLoS Genet 2011 1.83
113 Association between common variation at the FTO locus and changes in body mass index from infancy to late childhood: the complex nature of genetic association through growth and development. PLoS Genet 2011 1.82
114 A genome-wide association search for type 2 diabetes genes in African Americans. PLoS One 2012 1.72
115 Studying gene and gene-environment effects of uncommon and common variants on continuous traits: a marker-set approach using gene-trait similarity regression. Am J Hum Genet 2011 1.71
116 A coherent approach for analysis of the Illumina HumanMethylation450 BeadChip improves data quality and performance in epigenome-wide association studies. Genome Biol 2015 1.71
117 The role of adiposity in cardiometabolic traits: a Mendelian randomization analysis. PLoS Med 2013 1.70
118 Common genetic variation near melatonin receptor MTNR1B contributes to raised plasma glucose and increased risk of type 2 diabetes among Indian Asians and European Caucasians. Diabetes 2009 1.65
119 Adiposity-related heterogeneity in patterns of type 2 diabetes susceptibility observed in genome-wide association data. Diabetes 2008 1.64
120 Genetic evidence that raised sex hormone binding globulin (SHBG) levels reduce the risk of type 2 diabetes. Hum Mol Genet 2009 1.61
121 Reduced insulin exocytosis in human pancreatic β-cells with gene variants linked to type 2 diabetes. Diabetes 2012 1.61
122 A System for Information Management in BioMedical Studies--SIMBioMS. Bioinformatics 2009 1.60
123 Underlying genetic models of inheritance in established type 2 diabetes associations. Am J Epidemiol 2009 1.60
124 Human metabolic profiles are stably controlled by genetic and environmental variation. Mol Syst Biol 2011 1.60
125 Assessment of high-sensitivity C-reactive protein levels as diagnostic discriminator of maturity-onset diabetes of the young due to HNF1A mutations. Diabetes Care 2010 1.58
126 Type 2 diabetes risk alleles are associated with reduced size at birth. Diabetes 2009 1.58
127 Hnf1alpha (MODY3) controls tissue-specific transcriptional programs and exerts opposed effects on cell growth in pancreatic islets and liver. Mol Cell Biol 2009 1.58
128 Type 2 diabetes TCF7L2 risk genotypes alter birth weight: a study of 24,053 individuals. Am J Hum Genet 2007 1.52
129 Common variants at 6q22 and 17q21 are associated with intracranial volume. Nat Genet 2012 1.51
130 Association between the T-381C polymorphism of the brain natriuretic peptide gene and risk of type 2 diabetes in human populations. Hum Mol Genet 2007 1.40
131 Genome-wide association study reveals multiple loci associated with primary tooth development during infancy. PLoS Genet 2010 1.40
132 Genome-wide association study for type 2 diabetes in Indians identifies a new susceptibility locus at 2q21. Diabetes 2012 1.40
133 Association studies of genetic variation in the WFS1 gene and type 2 diabetes in U.K. populations. Diabetes 2002 1.37
134 Distinct variants at LIN28B influence growth in height from birth to adulthood. Am J Hum Genet 2010 1.37
135 Genome-wide association study identifies a novel locus contributing to type 2 diabetes susceptibility in Sikhs of Punjabi origin from India. Diabetes 2013 1.36
136 Reduced-function SLC22A1 polymorphisms encoding organic cation transporter 1 and glycemic response to metformin: a GoDARTS study. Diabetes 2009 1.34
137 Gene expression changes with age in skin, adipose tissue, blood and brain. Genome Biol 2013 1.34
138 Population-specific risk of type 2 diabetes conferred by HNF4A P2 promoter variants: a lesson for replication studies. Diabetes 2008 1.33
139 Evidence for linkage of stature to chromosome 3p26 in a large U.K. Family data set ascertained for type 2 diabetes. Am J Hum Genet 2001 1.32
140 Coexpression network analysis in abdominal and gluteal adipose tissue reveals regulatory genetic loci for metabolic syndrome and related phenotypes. PLoS Genet 2012 1.31
141 Metabolic characteristics of women with polycystic ovaries and oligo-amenorrhoea but normal androgen levels: implications for the management of polycystic ovary syndrome. Clin Endocrinol (Oxf) 2007 1.31
142 Association of genetic Loci with glucose levels in childhood and adolescence: a meta-analysis of over 6,000 children. Diabetes 2011 1.31
143 Genome-wide association studies: past, present and future. Hum Mol Genet 2008 1.31
144 Metabolic cardiovascular disease risk factors in women with self-reported symptoms of oligomenorrhea and/or hirsutism: Northern Finland Birth Cohort 1966 Study. J Clin Endocrinol Metab 2004 1.30
145 Evaluating the results of genomewide linkage scans of complex traits by locus counting. Am J Hum Genet 2002 1.30
146 Mendelian randomization studies do not support a role for raised circulating triglyceride levels influencing type 2 diabetes, glucose levels, or insulin resistance. Diabetes 2011 1.29
147 Extent, causes, and consequences of small RNA expression variation in human adipose tissue. PLoS Genet 2012 1.28
148 Manifestations of metabolic syndrome after hypertensive pregnancy. Hypertension 2004 1.26
149 Association of FTO variants with BMI and fat mass in the self-contained population of Sorbs in Germany. Eur J Hum Genet 2010 1.26
150 Common variants of the hepatocyte nuclear factor-4alpha P2 promoter are associated with type 2 diabetes in the U.K. population. Diabetes 2004 1.25
151 Detailed investigation of the role of common and low-frequency WFS1 variants in type 2 diabetes risk. Diabetes 2009 1.25
152 The presence of methylation quantitative trait loci indicates a direct genetic influence on the level of DNA methylation in adipose tissue. PLoS One 2013 1.25
153 Mendelian randomization studies do not support a causal role for reduced circulating adiponectin levels in insulin resistance and type 2 diabetes. Diabetes 2013 1.25
154 The miRNA profile of human pancreatic islets and beta-cells and relationship to type 2 diabetes pathogenesis. PLoS One 2013 1.25
155 Meta-analysis and a large association study confirm a role for calpain-10 variation in type 2 diabetes susceptibility. Am J Hum Genet 2003 1.24
156 A genome-wide association meta-analysis of circulating sex hormone-binding globulin reveals multiple Loci implicated in sex steroid hormone regulation. PLoS Genet 2012 1.23
157 Variability of gene expression profiles in human blood and lymphoblastoid cell lines. BMC Genomics 2010 1.22
158 Genetic variations in the gene encoding TFAP2B are associated with type 2 diabetes mellitus. J Hum Genet 2005 1.21
159 Hormonal profile of women with self-reported symptoms of oligomenorrhea and/or hirsutism: Northern Finland birth cohort 1966 study. J Clin Endocrinol Metab 2003 1.21
160 Development of polycystic ovary syndrome: involvement of genetic and environmental factors. Int J Androl 2005 1.20
161 Genome-wide association and longitudinal analyses reveal genetic loci linking pubertal height growth, pubertal timing and childhood adiposity. Hum Mol Genet 2013 1.19
162 Genetics of type 2 diabetes. Curr Opin Genet Dev 2007 1.19
163 Evaluation of serum 1,5 anhydroglucitol levels as a clinical test to differentiate subtypes of diabetes. Diabetes Care 2009 1.18
164 Meta-analysis of the INSIG2 association with obesity including 74,345 individuals: does heterogeneity of estimates relate to study design? PLoS Genet 2009 1.18
165 A large-scale association analysis of common variation of the HNF1alpha gene with type 2 diabetes in the U.K. Caucasian population. Diabetes 2005 1.18
166 Evidence of inbreeding depression on human height. PLoS Genet 2012 1.16
167 A powerful approach to sub-phenotype analysis in population-based genetic association studies. Genet Epidemiol 2010 1.16
168 SAIL--a software system for sample and phenotype availability across biobanks and cohorts. Bioinformatics 2010 1.15
169 Data sharing in large research consortia: experiences and recommendations from ENGAGE. Eur J Hum Genet 2013 1.14
170 Total zinc intake may modify the glucose-raising effect of a zinc transporter (SLC30A8) variant: a 14-cohort meta-analysis. Diabetes 2011 1.13
171 MicroRNA expression in abdominal and gluteal adipose tissue is associated with mRNA expression levels and partly genetically driven. PLoS One 2011 1.11
172 A meta-analysis of four European genome screens (GIFT Consortium) shows evidence for a novel region on chromosome 17p11.2-q22 linked to type 2 diabetes. Hum Mol Genet 2003 1.11
173 Comprehensive human adipose tissue mRNA and microRNA endogenous control selection for quantitative real-time-PCR normalization. Obesity (Silver Spring) 2010 1.11
174 Comparison of metabolic and inflammatory outcomes in women who used oral contraceptives and the levonorgestrel-releasing intrauterine device in a general population. Am J Obstet Gynecol 2008 1.10
175 Meta-analysis and functional effects of the SLC30A8 rs13266634 polymorphism on isolated human pancreatic islets. Mol Genet Metab 2010 1.10
176 Optimization of human plasma 1H NMR spectroscopic data processing for high-throughput metabolic phenotyping studies and detection of insulin resistance related to type 2 diabetes. Anal Chem 2008 1.10
177 MicroRNA-125a is over-expressed in insulin target tissues in a spontaneous rat model of Type 2 Diabetes. BMC Med Genomics 2009 1.10
178 Association studies of insulin receptor substrate 1 gene (IRS1) variants in type 2 diabetes samples enriched for family history and early age of onset. Diabetes 2004 1.07
179 Nonfasting glucose, ischemic heart disease, and myocardial infarction: a Mendelian randomization study. J Am Coll Cardiol 2012 1.06
180 Evaluation of association of HNF1B variants with diverse cancers: collaborative analysis of data from 19 genome-wide association studies. PLoS One 2010 1.05
181 Sex-biased genetic effects on gene regulation in humans. Genome Res 2012 1.05
182 Type 2 diabetes and obesity: genomics and the clinic. Hum Genet 2011 1.04
183 Variation within the gene encoding the upstream stimulatory factor 1 does not influence susceptibility to type 2 diabetes in samples from populations with replicated evidence of linkage to chromosome 1q. Diabetes 2006 1.04
184 Meta-analysis investigating associations between healthy diet and fasting glucose and insulin levels and modification by loci associated with glucose homeostasis in data from 15 cohorts. Am J Epidemiol 2012 1.03
185 Young-onset type 2 diabetes families are the major contributors to genetic loci in the Diabetes UK Warren 2 genome scan and identify putative novel loci on chromosomes 8q21, 21q22, and 22q11. Diabetes 2003 1.03
186 Correlation of rare coding variants in the gene encoding human glucokinase regulatory protein with phenotypic, cellular, and kinetic outcomes. J Clin Invest 2011 1.03
187 Insights into the molecular mechanism for type 2 diabetes susceptibility at the KCNQ1 locus from temporal changes in imprinting status in human islets. Diabetes 2012 1.02
188 Life-course analysis of a fat mass and obesity-associated (FTO) gene variant and body mass index in the Northern Finland Birth Cohort 1966 using structural equation modeling. Am J Epidemiol 2010 1.02
189 Global adiposity rather than abnormal regional fat distribution characterizes women with polycystic ovary syndrome. J Clin Endocrinol Metab 2007 1.02
190 Amerind ancestry, socioeconomic status and the genetics of type 2 diabetes in a Colombian population. PLoS One 2012 1.02
191 Large-scale analysis of the relationship between CYP11A promoter variation, polycystic ovarian syndrome, and serum testosterone. J Clin Endocrinol Metab 2004 1.01
192 Contribution of 32 GWAS-identified common variants to severe obesity in European adults referred for bariatric surgery. PLoS One 2013 1.01
193 Estimation and testing of parent-of-origin effects for quantitative traits. Am J Hum Genet 2003 0.99
194 Association of the CpG methylation pattern of the proximal insulin gene promoter with type 1 diabetes. PLoS One 2012 0.99
195 Sequencing of candidate genes selected by beta cell experts in monogenic diabetes of unknown aetiology. JOP 2010 0.98
196 Glycosylation of immunoglobulin g: role of genetic and epigenetic influences. PLoS One 2013 0.98
197 A genome-wide screen for interactions reveals a new locus on 4p15 modifying the effect of waist-to-hip ratio on total cholesterol. PLoS Genet 2011 0.97
198 Variants implicated in cortisone reductase deficiency do not contribute to susceptibility to common forms of polycystic ovary syndrome. Clin Endocrinol (Oxf) 2006 0.96
199 Analysis of multiple data sets reveals no association between the insulin gene variable number tandem repeat element and polycystic ovary syndrome or related traits. J Clin Endocrinol Metab 2005 0.96
200 Increased 5 alpha-reductase activity and adrenocortical drive in women with polycystic ovary syndrome. J Clin Endocrinol Metab 2009 0.96
201 The variable number of tandem repeats upstream of the insulin gene is a susceptibility locus for latent autoimmune diabetes in adults. Diabetes 2006 0.96
202 Variation across the allele frequency spectrum. Nat Genet 2010 0.95
203 Linkage disequilibrium mapping of the replicated type 2 diabetes linkage signal on chromosome 1q. Diabetes 2009 0.95
204 Polymorphisms in the glucokinase-associated, dual-specificity phosphatase 12 (DUSP12) gene under chromosome 1q21 linkage peak are associated with type 2 diabetes. Diabetes 2006 0.95
205 Evidence from a large U.K. family collection that genes influencing age of onset of type 2 diabetes map to chromosome 12p and to the MODY3/NIDDM2 locus on 12q24. Diabetes 2004 0.94
206 Genetic variation in the small heterodimer partner gene and young-onset type 2 diabetes, obesity, and birth weight in U.K. subjects. Diabetes 2003 0.93
207 Activating transcription factor 6 (ATF6) sequence polymorphisms in type 2 diabetes and pre-diabetic traits. Diabetes 2007 0.93
208 Genome-wide association scan allowing for epistasis in type 2 diabetes. Ann Hum Genet 2010 0.93
209 Variation at the insulin gene VNTR (variable number tandem repeat) polymorphism and early growth: studies in a large Finnish birth cohort. Diabetes 2004 0.91
210 Metabolic syndrome in polycystic ovary syndrome. Endokrynol Pol 2007 0.91
211 High-density haplotype structure and association testing of the insulin-degrading enzyme (IDE) gene with type 2 diabetes in 4,206 people. Diabetes 2006 0.91
212 Association and haplotype analysis of the insulin-degrading enzyme (IDE) gene, a strong positional and biological candidate for type 2 diabetes susceptibility. Diabetes 2003 0.91
213 European lactase persistence genotype shows evidence of association with increase in body mass index. Hum Mol Genet 2009 0.91
214 Epigenetic silencing of HNF1A associates with changes in the composition of the human plasma N-glycome. Epigenetics 2012 0.90
215 Large-scale association analysis of TNF/LTA gene region polymorphisms in type 2 diabetes. BMC Med Genet 2010 0.90
216 Genetics of type 2 diabetes mellitus and obesity--a review. Ann Med 2008 0.89
217 Prevalence of polycystic ovaries in women with androgenic alopecia. Eur J Endocrinol 2003 0.89
218 The functional "KL-VS" variant of KLOTHO is not associated with type 2 diabetes in 5028 UK Caucasians. BMC Med Genet 2006 0.89
219 Serum levels of retinol-binding protein 4 and adiponectin in women with polycystic ovary syndrome: associations with visceral fat but no evidence for fat mass-independent effects on pathogenesis in this condition. J Clin Endocrinol Metab 2008 0.88
220 Higher magnesium intake is associated with lower fasting glucose and insulin, with no evidence of interaction with select genetic loci, in a meta-analysis of 15 CHARGE Consortium Studies. J Nutr 2013 0.88
221 Variation within the type 2 diabetes susceptibility gene calpain-10 and polycystic ovary syndrome. J Clin Endocrinol Metab 2002 0.87
222 Mutations in HNF1A result in marked alterations of plasma glycan profile. Diabetes 2012 0.87
223 Mechanisms of disease: genetic insights into the etiology of type 2 diabetes and obesity. Nat Clin Pract Endocrinol Metab 2008 0.87
224 How useful is the fine-scale mapping of complex trait linkage peaks? Evaluating the impact of additional microsatellite genotyping on the posterior probability of linkage. Genet Epidemiol 2005 0.86
225 Ovarian morphology is a marker of heritable biochemical traits in sisters with polycystic ovaries. J Clin Endocrinol Metab 2008 0.86
226 Insulin resistance and beta-cell dysfunction in normoglycaemic European women with a history of gestational diabetes. Clin Endocrinol (Oxf) 2003 0.85
227 Metabolic profiling in Maturity-onset diabetes of the young (MODY) and young onset type 2 diabetes fails to detect robust urinary biomarkers. PLoS One 2012 0.85
228 Will the real disease gene please stand up? BMC Genet 2005 0.84
229 Common variation in the LMNA gene (encoding lamin A/C) and type 2 diabetes: association analyses in 9,518 subjects. Diabetes 2007 0.84
230 Detailed analysis of variation at and around mitochondrial position 16189 in a large Finnish cohort reveals no significant associations with early growth or metabolic phenotypes at age 31 years. J Clin Endocrinol Metab 2007 0.83
231 Low frequency variants in the exons only encoding isoform A of HNF1A do not contribute to susceptibility to type 2 diabetes. PLoS One 2009 0.83
232 Expression of phosphofructokinase in skeletal muscle is influenced by genetic variation and associated with insulin sensitivity. Diabetes 2013 0.83
233 Rapid testing of gene-gene interactions in genome-wide association studies of binary and quantitative phenotypes. Genet Epidemiol 2011 0.83
234 Early metabolic defects following gestational diabetes in three ethnic groups of anti-GAD antibodies negative women with normal fasting glucose. Hormones (Athens) 2007 0.82
235 Elevation of soluble E-selectin levels following gestational diabetes is restricted to women with persistent abnormalities of glucose regulation. Clin Endocrinol (Oxf) 2002 0.82
236 Patterns of ovarian morphology in polycystic ovary syndrome: a study utilising magnetic resonance imaging. Eur Radiol 2009 0.82
237 Relationship between E23K (an established type II diabetes-susceptibility variant within KCNJ11), polycystic ovary syndrome and androgen levels. Eur J Hum Genet 2007 0.81
238 Ghrelin levels are suppressed and show a blunted response to oral glucose in women with polycystic ovary syndrome. Eur J Endocrinol 2008 0.81
239 Functional variation in VEGF is not associated with type 2 diabetes in a United Kingdom Caucasian population. JOP 2006 0.80
240 Assessment of the role of common genetic variation in the transient neonatal diabetes mellitus (TNDM) region in type 2 diabetes: a comparative genomic and tagging single nucleotide polymorphism approach. Diabetes 2006 0.79
241 Sustained endogenous glucose production, diminished lipolysis and non-esterified fatty acid appearance and oxidation in non-obese women at high risk of type 2 diabetes. Eur J Endocrinol 2006 0.79
242 Identifying susceptibility variants for type 2 diabetes. Methods Mol Biol 2007 0.79
243 Assessing association between protein truncating variants and quantitative traits. Bioinformatics 2013 0.78
244 Silencing of Atp2b1 increases blood pressure through vasoconstriction. J Hypertens 2013 0.78
245 Family-based analysis of tumor necrosis factor and lymphotoxin-alpha tag polymorphisms with type 1 diabetes in the population of South Croatia. Hum Immunol 2009 0.78
246 Ethnic variation in the activity of lipid desaturases and their relationships with cardiovascular risk factors in control women and an at-risk group with previous gestational diabetes mellitus: a cross-sectional study. Lipids Health Dis 2013 0.77
247 Human islet function following 20 years of cryogenic biobanking. Diabetologia 2015 0.77
248 Determinants of dyslipidaemia in probands with polycystic ovary syndrome and their sisters. Clin Endocrinol (Oxf) 2011 0.76
249 Correction: The Influence of Age and Sex on Genetic Associations with Adult Body Size and Shape: A Large-Scale Genome-Wide Interaction Study. PLoS Genet 2016 0.75
250 New Blood Pressure-Associated Loci Identified in Meta-Analyses of 475 000 Individuals. Circ Cardiovasc Genet 2017 0.75
251 Delayed metabolic and thermogenic response to a mixed meal in normoglycemic European women with previous gestational diabetes. J Clin Endocrinol Metab 2002 0.75
252 Corrigendum: Integrative genomic analysis implicates limited peripheral adipose storage capacity in the pathogenesis of human insulin resistance. Nat Genet 2017 0.75
253 Metabolic and reproductive characteristics of first-degree relatives of women with self-reported oligo-amenorrhoea and hirsutism. Gynecol Endocrinol 2010 0.75
254 Examining the candidacy of ghrelin as a gene responsible for variation in adult stature in a United Kingdom population with type 2 diabetes. J Clin Endocrinol Metab 2007 0.75
255 Erratum: Characterization of functional methylomes by next-generation capture sequencing identifies novel disease-associated variants. Nat Commun 2015 0.75
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258 Variation at the IRF2 gene and susceptibility to psoriasis in chromosome 4q-linked families. J Invest Dermatol 2004 0.75