Published in Nat Genet on October 11, 2009
Mapping and analysis of chromatin state dynamics in nine human cell types. Nature (2011) 24.37
Systematic identification of trans eQTLs as putative drivers of known disease associations. Nat Genet (2013) 7.13
ITPA gene variants protect against anaemia in patients treated for chronic hepatitis C. Nature (2010) 4.64
Genome-wide association study of hematological and biochemical traits in a Japanese population. Nat Genet (2010) 4.36
Common variants at 10 genomic loci influence hemoglobin A₁(C) levels via glycemic and nonglycemic pathways. Diabetes (2010) 4.07
Natural selection on EPAS1 (HIF2alpha) associated with low hemoglobin concentration in Tibetan highlanders. Proc Natl Acad Sci U S A (2010) 3.78
Trans-eQTLs reveal that independent genetic variants associated with a complex phenotype converge on intermediate genes, with a major role for the HLA. PLoS Genet (2011) 3.65
Genomic research and wide data sharing: views of prospective participants. Genet Med (2010) 3.45
The Rotterdam Study: 2012 objectives and design update. Eur J Epidemiol (2011) 3.26
Seventy-five genetic loci influencing the human red blood cell. Nature (2012) 2.77
A genome-wide association study of red blood cell traits using the electronic medical record. PLoS One (2010) 2.59
The Rotterdam Study: 2014 objectives and design update. Eur J Epidemiol (2013) 2.56
Cohort Profile: TwinsUK and healthy ageing twin study. Int J Epidemiol (2012) 2.37
Down-regulation of Bmp/Smad signaling by Tmprss6 is required for maintenance of systemic iron homeostasis. Blood (2010) 2.20
Association of genome-wide variation with the risk of incident heart failure in adults of European and African ancestry: a prospective meta-analysis from the cohorts for heart and aging research in genomic epidemiology (CHARGE) consortium. Circ Cardiovasc Genet (2010) 1.83
The UK Adult Twin Registry (TwinsUK Resource). Twin Res Hum Genet (2012) 1.81
A genome-wide association study of upper aerodigestive tract cancers conducted within the INHANCE consortium. PLoS Genet (2011) 1.68
Multiple loci are associated with white blood cell phenotypes. PLoS Genet (2011) 1.65
The Rotterdam Study: 2016 objectives and design update. Eur J Epidemiol (2015) 1.61
Imputation of exome sequence variants into population- based samples and blood-cell-trait-associated loci in African Americans: NHLBI GO Exome Sequencing Project. Am J Hum Genet (2012) 1.60
SNPs associated with cerebrospinal fluid phospho-tau levels influence rate of decline in Alzheimer's disease. PLoS Genet (2010) 1.58
Four novel Loci (19q13, 6q24, 12q24, and 5q14) influence the microcirculation in vivo. PLoS Genet (2010) 1.57
Genetic association analysis highlights new loci that modulate hematological trait variation in Caucasians and African Americans. Hum Genet (2010) 1.54
Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers. PLoS Genet (2013) 1.52
Gene-centric meta-analysis in 87,736 individuals of European ancestry identifies multiple blood-pressure-related loci. Am J Hum Genet (2014) 1.47
A 3-bp deletion in the HBS1L-MYB intergenic region on chromosome 6q23 is associated with HbF expression. Blood (2011) 1.47
Identification of nine novel loci associated with white blood cell subtypes in a Japanese population. PLoS Genet (2011) 1.45
Dynamic long-range chromatin interactions control Myb proto-oncogene transcription during erythroid development. EMBO J (2011) 1.41
Integrating genome-wide genetic variations and monocyte expression data reveals trans-regulated gene modules in humans. PLoS Genet (2011) 1.40
PRIMe: a method for characterization and evaluation of pleiotropic regions from multiple genome-wide association studies. Bioinformatics (2011) 1.39
Behavior of QQ-plots and genomic control in studies of gene-environment interaction. PLoS One (2011) 1.36
Integration of GWAS SNPs and tissue specific expression profiling reveal discrete eQTLs for human traits in blood and brain. Neurobiol Dis (2012) 1.35
Genetic analysis of hematological parameters in incipient lines of the collaborative cross. G3 (Bethesda) (2012) 1.35
Severe anemia in the Nan mutant mouse caused by sequence-selective disruption of erythroid Kruppel-like factor. Proc Natl Acad Sci U S A (2010) 1.34
Membrane-anchored serine proteases in vertebrate cell and developmental biology. Annu Rev Cell Dev Biol (2011) 1.26
Deletion of TMPRSS6 attenuates the phenotype in a mouse model of β-thalassemia. Blood (2012) 1.25
Imputation-based meta-analysis of severe malaria in three African populations. PLoS Genet (2013) 1.25
Cyclin D3 coordinates the cell cycle during differentiation to regulate erythrocyte size and number. Genes Dev (2012) 1.23
Genome-wide significant associations for variants with minor allele frequency of 5% or less--an overview: A HuGE review. Am J Epidemiol (2010) 1.21
Tmprss6 is a genetic modifier of the Hfe-hemochromatosis phenotype in mice. Blood (2011) 1.19
Regulation of TMPRSS6 by BMP6 and iron in human cells and mice. Blood (2011) 1.19
Genetic variation at MECOM, TERT, JAK2 and HBS1L-MYB predisposes to myeloproliferative neoplasms. Nat Commun (2015) 1.19
Novel association to the proprotein convertase PCSK7 gene locus revealed by analysing soluble transferrin receptor (sTfR) levels. Hum Mol Genet (2010) 1.18
GeMes, clusters of DNA methylation under genetic control, can inform genetic and epigenetic analysis of disease. Am J Hum Genet (2014) 1.15
HBS1L-MYB intergenic variants modulate fetal hemoglobin via long-range MYB enhancers. J Clin Invest (2014) 1.14
Iron refractory iron deficiency anemia. Haematologica (2013) 1.13
Genome-wide association analysis of soluble ICAM-1 concentration reveals novel associations at the NFKBIK, PNPLA3, RELA, and SH2B3 loci. PLoS Genet (2011) 1.10
GWAS of blood cell traits identifies novel associated loci and epistatic interactions in Caucasian and African-American children. Hum Mol Genet (2012) 1.09
Snx3 regulates recycling of the transferrin receptor and iron assimilation. Cell Metab (2013) 1.06
Genetic variation influences glutamate concentrations in brains of patients with multiple sclerosis. Brain (2010) 1.06
Genetic Loci implicated in erythroid differentiation and cell cycle regulation are associated with red blood cell traits. Mayo Clin Proc (2012) 1.05
Identification of a common variant in the TFR2 gene implicated in the physiological regulation of serum iron levels. Hum Mol Genet (2010) 1.03
Genetic modifiers of HbF and response to hydroxyurea in sickle cell disease. Pediatr Blood Cancer (2010) 1.03
Genome-wide association mapping of blood cell traits in mice. Mamm Genome (2013) 1.01
A systematic eQTL study of cis-trans epistasis in 210 HapMap individuals. Eur J Hum Genet (2011) 1.00
Genetic variants that confer resistance to malaria are associated with red blood cell traits in African-Americans: an electronic medical record-based genome-wide association study. G3 (Bethesda) (2013) 1.00
Developmental plasticity of red blood cell homeostasis. Am J Hematol (2014) 0.99
Race-ethnic differences in the association of genetic loci with HbA1c levels and mortality in U.S. adults: the third National Health and Nutrition Examination Survey (NHANES III). BMC Med Genet (2012) 0.99
Genome-wide association analysis of red blood cell traits in African Americans: the COGENT Network. Hum Mol Genet (2013) 0.97
Red blood cell size is inversely associated with leukocyte telomere length in a large multi-ethnic population. PLoS One (2012) 0.97
TMEM14C is required for erythroid mitochondrial heme metabolism. J Clin Invest (2014) 0.96
Silencing of RhoA nucleotide exchange factor, ARHGEF3, reveals its unexpected role in iron uptake. Blood (2011) 0.95
12q24 locus association with type 1 diabetes: SH2B3 or ATXN2? World J Diabetes (2014) 0.95
Genome-wide association studies of hematologic phenotypes: a window into human hematopoiesis. Curr Opin Genet Dev (2013) 0.94
A divergent Artiodactyl MYADM-like repeat is associated with erythrocyte traits and weight of lamb weaned in domestic sheep. PLoS One (2013) 0.94
Genetic associations with expression for genes implicated in GWAS studies for atherosclerotic cardiovascular disease and blood phenotypes. Hum Mol Genet (2013) 0.93
Promises and challenges of pharmacogenetics: an overview of study design, methodological and statistical issues. JRSM Cardiovasc Dis (2012) 0.93
Multiple nonglycemic genomic loci are newly associated with blood level of glycated hemoglobin in East Asians. Diabetes (2014) 0.93
Sequence variation at multiple loci influences red cell hemoglobin concentration. Blood (2010) 0.92
The involvement of cation leaks in the storage lesion of red blood cells. Front Physiol (2014) 0.92
Genes determining blood cell traits. Nat Genet (2009) 0.92
The impact of HFE mutations on haemoglobin and iron status in individuals experiencing repeated iron loss through blood donation*. Br J Haematol (2011) 0.90
Integrated genome-wide analysis of expression quantitative trait loci aids interpretation of genomic association studies. Genome Biol (2017) 0.90
Genetic determinants of haemolysis in sickle cell anaemia. Br J Haematol (2013) 0.89
The erythroid function of transferrin receptor 2 revealed by Tmprss6 inactivation in different models of transferrin receptor 2 knockout mice. Haematologica (2014) 0.87
Polymorphisms in iron homeostasis genes and urinary cadmium concentrations among nonsmoking women in Argentina and Bangladesh. Environ Health Perspect (2013) 0.87
Four variants in transferrin and HFE genes as potential markers of iron deficiency anaemia risk: an association study in menstruating women. Nutr Metab (Lond) (2011) 0.87
Genome-wide associations for birth weight and correlations with adult disease. Nature (2016) 0.87
Macrocytic anemia and mitochondriopathy resulting from a defect in sideroflexin 4. Am J Hum Genet (2013) 0.86
The extrahepatic role of TFR2 in iron homeostasis. Front Pharmacol (2014) 0.86
Genetic determinants of variability in glycated hemoglobin (HbA(1c)) in humans: review of recent progress and prospects for use in diabetes care. Curr Diab Rep (2011) 0.86
Genome-wide association study reveals constant and specific loci for hematological traits at three time stages in a White Duroc × Erhualian F2 resource population. PLoS One (2013) 0.86
Gene-smoking interactions identify several novel blood pressure loci in the Framingham Heart Study. Am J Hypertens (2014) 0.86
The use of race, ethnicity and ancestry in human genetic research. Hugo J (2011) 0.86
Hemoglobin decline, function, and mortality in the elderly: the cardiovascular health study. Am J Hematol (2012) 0.85
Hereditary hemochromatosis and transferrin receptor 2. Biochim Biophys Acta (2011) 0.85
Physiology of iron metabolism. Transfus Med Hemother (2014) 0.84
Genome-wide association studies and large-scale collaborations in epidemiology. Eur J Epidemiol (2010) 0.84
Lessons and Implications from Genome-Wide Association Studies (GWAS) Findings of Blood Cell Phenotypes. Genes (Basel) (2014) 0.84
Genome-wide association study identified the human leukocyte antigen region as a novel locus for plasma beta-2 microglobulin. Hum Genet (2013) 0.84
Global genetic architecture of an erythroid quantitative trait locus, HMIP-2. Ann Hum Genet (2014) 0.83
Disruption of the Hbs1l-Myb locus causes hereditary persistence of fetal hemoglobin in a mouse model. Mol Cell Biol (2013) 0.83
An empirical comparison of meta-analysis and mega-analysis of individual participant data for identifying gene-environment interactions. Genet Epidemiol (2014) 0.82
Generalization of associations of kidney-related genetic loci to American Indians. Clin J Am Soc Nephrol (2013) 0.82
Contrasting the Genetic Architecture of 30 Complex Traits from Summary Association Data. Am J Hum Genet (2016) 0.82
Quantitative trait locus linkage analysis in a large Amish pedigree identifies novel candidate loci for erythrocyte traits. Mol Genet Genomic Med (2013) 0.81
Novel loci affecting iron homeostasis and their effects in individuals at risk for hemochromatosis. Nat Commun (2014) 0.81
Generation of N-ethyl-N-nitrosourea-induced mouse mutants with deviations in hematological parameters. Mamm Genome (2011) 0.81
QTLs for murine red blood cell parameters in LG/J and SM/J F(2) and advanced intercross lines. Mamm Genome (2012) 0.80
Association between the ABO locus and hematological traits in Korean. BMC Genet (2012) 0.80
Principal components analysis corrects for stratification in genome-wide association studies. Nat Genet (2006) 115.71
Genomic control for association studies. Biometrics (1999) 64.39
A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis. Nat Genet (1996) 26.06
Robust associations of four new chromosome regions from genome-wide analyses of type 1 diabetes. Nat Genet (2007) 19.04
lumi: a pipeline for processing Illumina microarray. Bioinformatics (2008) 17.19
Imputation-based analysis of association studies: candidate regions and quantitative traits. PLoS Genet (2007) 15.55
Genome-wide association study identifies eight loci associated with blood pressure. Nat Genet (2009) 12.44
Genome-wide association study of blood pressure and hypertension. Nat Genet (2009) 11.54
The genetic association database. Nat Genet (2004) 11.29
Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium: Design of prospective meta-analyses of genome-wide association studies from 5 cohorts. Circ Cardiovasc Genet (2009) 8.42
Shared and distinct genetic variants in type 1 diabetes and celiac disease. N Engl J Med (2008) 7.66
Newly identified genetic risk variants for celiac disease related to the immune response. Nat Genet (2008) 7.63
Sequence variants affecting eosinophil numbers associate with asthma and myocardial infarction. Nat Genet (2009) 6.83
Human fetal hemoglobin expression is regulated by the developmental stage-specific repressor BCL11A. Science (2008) 6.66
The definition of anemia: what is the lower limit of normal of the blood hemoglobin concentration? Blood (2005) 5.58
Genome-wide association study shows BCL11A associated with persistent fetal hemoglobin and amelioration of the phenotype of beta-thalassemia. Proc Natl Acad Sci U S A (2008) 5.27
Somatic mutations in PTPN11 in juvenile myelomonocytic leukemia, myelodysplastic syndromes and acute myeloid leukemia. Nat Genet (2003) 5.16
A QTL influencing F cell production maps to a gene encoding a zinc-finger protein on chromosome 2p15. Nat Genet (2007) 4.61
Identification of a gene responsible for familial Wolff-Parkinson-White syndrome. N Engl J Med (2001) 4.46
Mutations in TMPRSS6 cause iron-refractory iron deficiency anemia (IRIDA). Nat Genet (2008) 4.02
A HaemAtlas: characterizing gene expression in differentiated human blood cells. Blood (2009) 3.63
Abnormal mesoderm patterning in mouse embryos mutant for the SH2 tyrosine phosphatase Shp-2. EMBO J (1997) 3.27
Cytokine signaling and hematopoietic homeostasis are disrupted in Lnk-deficient mice. J Exp Med (2002) 3.24
The hemochromatosis gene product complexes with the transferrin receptor and lowers its affinity for ligand binding. Proc Natl Acad Sci U S A (1998) 3.23
A prospective study of anemia status, hemoglobin concentration, and mortality in an elderly cohort: the Cardiovascular Health Study. Arch Intern Med (2005) 3.14
Diffuse large B-cell lymphoma subgroups have distinct genetic profiles that influence tumor biology and improve gene-expression-based survival prediction. Blood (2005) 3.12
Progression through key stages of haemopoiesis is dependent on distinct threshold levels of c-Myb. EMBO J (2003) 2.61
Genetic and environmental causes of variation in basal levels of blood cells. Twin Res (1999) 2.36
c-Myb and p300 regulate hematopoietic stem cell proliferation and differentiation. Dev Cell (2005) 2.30
Increased risk of acute myocardial infarction in carriers of the hemochromatosis gene Cys282Tyr mutation : a prospective cohort study in men in eastern Finland. Circulation (1999) 2.29
Anemia as a risk factor for cardiovascular disease in The Atherosclerosis Risk in Communities (ARIC) study. J Am Coll Cardiol (2002) 2.25
Novel PRKAG2 mutation responsible for the genetic syndrome of ventricular preexcitation and conduction system disease with childhood onset and absence of cardiac hypertrophy. Circulation (2001) 2.25
ER stress controls iron metabolism through induction of hepcidin. Science (2009) 2.18
Hepcidin antimicrobial peptide transgenic mice exhibit features of the anemia of inflammation. Blood (2007) 1.97
Partial deficiency of erythrocyte spectrin in hereditary spherocytosis. Nature (1985) 1.81
The HBS1L-MYB intergenic region on chromosome 6q23.3 influences erythrocyte, platelet, and monocyte counts in humans. Blood (2007) 1.73
Promoter polymorphism of the erythropoietin gene in severe diabetic eye and kidney complications. Proc Natl Acad Sci U S A (2008) 1.70
P-selectin glycoprotein ligand-1 is expressed on endothelial cells and mediates monocyte adhesion to activated endothelium. Arterioscler Thromb Vasc Biol (2007) 1.63
Heterozygosity for a hereditary hemochromatosis gene is associated with cardiovascular death in women. Circulation (1999) 1.54
Genome-wide association and linkage analyses of hemostatic factors and hematological phenotypes in the Framingham Heart Study. BMC Med Genet (2007) 1.44
Hematocrit and the risk of cardiovascular disease--the Framingham study: a 34-year follow-up. Am Heart J (1994) 1.42
Influence of flow properties of blood upon viscosity-hematocrit relationships. J Clin Invest (1962) 1.33
Stat5 regulates cellular iron uptake of erythroid cells via IRP-2 and TfR-1. Blood (2008) 1.31
Elevated blood viscosity in patients with borderline essential hypertension. Hypertension (1983) 1.24
Mutant forms of spectrin alpha-subunits in hereditary elliptocytosis. J Clin Invest (1987) 1.22
Genotypic and phenotypic characterization of Noonan syndrome: new data and review of the literature. Am J Med Genet A (2005) 1.19
Association of blood pressure with blood viscosity in american indians: the Strong Heart Study. Hypertension (2005) 1.17
Etiology of differences in hematocrit between males and females: sequence-based polymorphisms in erythropoietin and its receptor. J Gend Specif Med (2001) 1.16
Correlates of blood pressure in community-dwelling older adults. The Cardiovascular Health Study. Cardiovascular Health Study (CHS) Collaborative Research Group. Hypertension (1994) 1.12
Evidence for linkage of red blood cell size and count: genome-wide scans in the Framingham Heart Study. Am J Hematol (2007) 1.12
Genetic and environmental influences on the size and number of cells in the blood. Genet Epidemiol (1985) 1.10
Hepcidin: a new tool in the management of anaemia in patients with chronic kidney disease? Nephrol Dial Transplant (2008) 1.07
Evidence for additional blood pressure correlates in adults 20-56 years old. Circulation (1980) 1.06
Genetic complexity in sickle cell disease. Proc Natl Acad Sci U S A (2008) 1.04
Mean red cell volume as a correlate of blood pressure. Circulation (1996) 1.03
Mortality and anaemia in women. Lancet (1974) 1.01
Evidence for a gene influencing haematocrit on chromosome 6q23-24: genomewide scan in the Framingham Heart Study. J Med Genet (2005) 0.95
Determinants and characteristics of mean corpuscular volume and hemoglobin concentration in white HFE C282Y homozygotes in the hemochromatosis and iron overload screening study. Am J Hematol (2007) 0.94
Hemochromatosis due to mutations in transferrin receptor 2. Blood Cells Mol Dis (2003) 0.92
Genetic heterogeneity in LEOPARD syndrome: two families with no mutations in PTPN11. J Hum Genet (2004) 0.91
High blood viscosity syndrome in cerebral infarction. Stroke (1974) 0.90
Haematocrit: relationships with blood lipids, blood pressure and other cardiovascular risk factors. Thromb Haemost (1994) 0.87
Sequence-based polymorphisms in members of the apoptosis Bcl-2 gene family and their association with hematocrit level. J Gend Specif Med (2003) 0.83
Genomewide scans of red cell indices suggest linkage on chromosome 6q23. J Med Genet (2006) 0.82
A second generation human haplotype map of over 3.1 million SNPs. Nature (2007) 85.39
A new equation to estimate glomerular filtration rate. Ann Intern Med (2009) 71.41
Finding the missing heritability of complex diseases. Nature (2009) 67.95
A common variant in the FTO gene is associated with body mass index and predisposes to childhood and adult obesity. Science (2007) 37.88
Meta-analysis of genome-wide association data and large-scale replication identifies additional susceptibility loci for type 2 diabetes. Nat Genet (2008) 35.06
Using standardized serum creatinine values in the modification of diet in renal disease study equation for estimating glomerular filtration rate. Ann Intern Med (2006) 32.81
Integrating common and rare genetic variation in diverse human populations. Nature (2010) 32.30
Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease. Nat Genet (2008) 30.20
Biological, clinical and population relevance of 95 loci for blood lipids. Nature (2010) 28.21
A genome-wide association study identifies IL23R as an inflammatory bowel disease gene. Science (2006) 27.49
Population genomics of human gene expression. Nat Genet (2007) 24.49
Genomewide association analysis of coronary artery disease. N Engl J Med (2007) 24.38
Sequence variations in PCSK9, low LDL, and protection against coronary heart disease. N Engl J Med (2006) 23.83
National Kidney Foundation practice guidelines for chronic kidney disease: evaluation, classification, and stratification. Ann Intern Med (2003) 23.33
Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index. Nat Genet (2010) 23.08
Heart disease and stroke statistics--2015 update: a report from the American Heart Association. Circulation (2014) 22.74
Six new loci associated with body mass index highlight a neuronal influence on body weight regulation. Nat Genet (2008) 22.35
Rare structural variants disrupt multiple genes in neurodevelopmental pathways in schizophrenia. Science (2008) 20.68
Common variants at 30 loci contribute to polygenic dyslipidemia. Nat Genet (2008) 20.66
A common allele on chromosome 9 associated with coronary heart disease. Science (2007) 20.37
Assessing kidney function--measured and estimated glomerular filtration rate. N Engl J Med (2006) 20.27
Hundreds of variants clustered in genomic loci and biological pathways affect human height. Nature (2010) 20.01
Association between microdeletion and microduplication at 16p11.2 and autism. N Engl J Med (2008) 19.71
Heart disease and stroke statistics--2007 update: a report from the American Heart Association Statistics Committee and Stroke Statistics Subcommittee. Circulation (2006) 19.43
Genome-wide association study identifies new susceptibility loci for Crohn disease and implicates autophagy in disease pathogenesis. Nat Genet (2007) 19.08
Variant of transcription factor 7-like 2 (TCF7L2) gene confers risk of type 2 diabetes. Nat Genet (2006) 19.03
A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD. Neuron (2011) 18.73
Association of estimated glomerular filtration rate and albuminuria with all-cause and cardiovascular mortality in general population cohorts: a collaborative meta-analysis. Lancet (2010) 18.36
GenABEL: an R library for genome-wide association analysis. Bioinformatics (2007) 18.10
New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk. Nat Genet (2010) 17.89
Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci. Nat Genet (2010) 17.38
Genome-wide detection and characterization of positive selection in human populations. Nature (2007) 17.27
2013 ACC/AHA guideline on the treatment of blood cholesterol to reduce atherosclerotic cardiovascular risk in adults: a report of the American College of Cardiology/American Heart Association Task Force on Practice Guidelines. J Am Coll Cardiol (2013) 17.18
Evolution and functional impact of rare coding variation from deep sequencing of human exomes. Science (2012) 17.12
The fine-scale structure of recombination rate variation in the human genome. Science (2004) 17.05
Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis. Nat Genet (2010) 16.96