Published in Nature on December 05, 2012
Searching for missing heritability: designing rare variant association studies. Proc Natl Acad Sci U S A (2014) 3.47
An erythroid enhancer of BCL11A subject to genetic variation determines fetal hemoglobin level. Science (2013) 2.71
Joint analysis of functional genomic data and genome-wide association studies of 18 human traits. Am J Hum Genet (2014) 2.55
Transcriptional diversity during lineage commitment of human blood progenitors. Science (2014) 1.93
The genetics of major depression. Neuron (2014) 1.80
Shared genetic basis for migraine and ischemic stroke: A genome-wide analysis of common variants. Neurology (2015) 1.62
Gene-centric meta-analysis in 87,736 individuals of European ancestry identifies multiple blood-pressure-related loci. Am J Hum Genet (2014) 1.47
Examining the clinical use of hemochromatosis genetic testing. Can J Gastroenterol Hepatol (2015) 1.45
Estimation and partition of heritability in human populations using whole-genome analysis methods. Annu Rev Genet (2013) 1.41
SMIM1 underlies the Vel blood group and influences red blood cell traits. Nat Genet (2013) 1.41
Piezo1 links mechanical forces to red blood cell volume. Elife (2015) 1.33
Detection and interpretation of shared genetic influences on 42 human traits. Nat Genet (2016) 1.32
KLF1 mutations are relatively more common in a thalassemia endemic region and ameliorate the severity of β-thalassemia. Blood (2014) 1.24
Lineage-Specific Genome Architecture Links Enhancers and Non-coding Disease Variants to Target Gene Promoters. Cell (2016) 1.20
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
The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. Cell (2016) 1.13
Rare and low-frequency coding variants in CXCR2 and other genes are associated with hematological traits. Nat Genet (2014) 1.10
Maps of open chromatin highlight cell type-restricted patterns of regulatory sequence variation at hematological trait loci. Genome Res (2013) 1.10
Phenolyzer: phenotype-based prioritization of candidate genes for human diseases. Nat Methods (2015) 1.10
Systematic Functional Dissection of Common Genetic Variation Affecting Red Blood Cell Traits. Cell (2016) 1.09
Inherited predisposition to myeloproliferative neoplasms. Ther Adv Hematol (2013) 1.06
Genome-wide association mapping of blood cell traits in mice. Mamm Genome (2013) 1.01
Applications of high-throughput DNA sequencing to benign hematology. Blood (2013) 1.01
Piezo proteins: regulators of mechanosensation and other cellular processes. J Biol Chem (2014) 1.01
Genome-wide association analysis of red blood cell traits in African Americans: the COGENT Network. Hum Mol Genet (2013) 0.97
TMEM14C is required for erythroid mitochondrial heme metabolism. J Clin Invest (2014) 0.96
Multiple functional variants in long-range enhancer elements contribute to the risk of SNP rs965513 in thyroid cancer. Proc Natl Acad Sci U S A (2015) 0.96
Erythro-megakaryocytic transcription factors associated with hereditary anemia. Blood (2014) 0.95
Genome-wide association analyses based on whole-genome sequencing in Sardinia provide insights into regulation of hemoglobin levels. Nat Genet (2015) 0.95
Fetal globin gene repressors as drug targets for molecular therapies to treat the β-globinopathies. Mol Cell Biol (2014) 0.94
Genome-wide association study follow-up identifies cyclin A2 as a regulator of the transition through cytokinesis during terminal erythropoiesis. Am J Hematol (2015) 0.93
Massively parallel sequencing: the new frontier of hematologic genomics. Blood (2013) 0.93
Trim58 degrades Dynein and regulates terminal erythropoiesis. Dev Cell (2014) 0.93
Multiple nonglycemic genomic loci are newly associated with blood level of glycated hemoglobin in East Asians. Diabetes (2014) 0.93
Beyond ubiquitination: the atypical functions of Fbxo7 and other F-box proteins. Open Biol (2013) 0.91
Assessing the utility of intermediate phenotypes for genetic mapping of psychiatric disease. Trends Neurosci (2014) 0.90
Genetic characterization of Greek population isolates reveals strong genetic drift at missense and trait-associated variants. Nat Commun (2014) 0.88
Variation at 3p24.1 and 6q23.3 influences the risk of Hodgkin's lymphoma. Nat Commun (2013) 0.88
Breed-specific hematological phenotypes in the dog: a natural resource for the genetic dissection of hematological parameters in a mammalian species. PLoS One (2013) 0.88
Genetic Associations with Obstructive Sleep Apnea Traits in Hispanic/Latino Americans. Am J Respir Crit Care Med (2016) 0.86
A genome-wide association study of saturated, mono- and polyunsaturated red blood cell fatty acids in the Framingham Heart Offspring Study. Prostaglandins Leukot Essent Fatty Acids (2014) 0.86
Macrocytic anemia and mitochondriopathy resulting from a defect in sideroflexin 4. Am J Hum Genet (2013) 0.86
Exome Genotyping Identifies Pleiotropic Variants Associated with Red Blood Cell Traits. Am J Hum Genet (2016) 0.85
Targeted Application of Human Genetic Variation Can Improve Red Blood Cell Production from Stem Cells. Cell Stem Cell (2015) 0.85
Cross Cancer Genomic Investigation of Inflammation Pathway for Five Common Cancers: Lung, Ovary, Prostate, Breast, and Colorectal Cancer. J Natl Cancer Inst (2015) 0.85
SNPsea: an algorithm to identify cell types, tissues and pathways affected by risk loci. Bioinformatics (2014) 0.84
Lessons and Implications from Genome-Wide Association Studies (GWAS) Findings of Blood Cell Phenotypes. Genes (Basel) (2014) 0.84
Cyclin A2 regulates erythrocyte morphology and numbers. Cell Cycle (2016) 0.84
Global genetic architecture of an erythroid quantitative trait locus, HMIP-2. Ann Hum Genet (2014) 0.83
Pathway databases: making chemical and biological sense of the genomic data flood. Chem Biol (2013) 0.83
The Hybrid Mouse Diversity Panel: a resource for systems genetics analyses of metabolic and cardiovascular traits. J Lipid Res (2016) 0.83
Discovery and refinement of genetic loci associated with cardiometabolic risk using dense imputation maps. Nat Genet (2016) 0.82
A loss of function screen of identified genome-wide association study Loci reveals new genes controlling hematopoiesis. PLoS Genet (2014) 0.82
Hereditary xerocytosis revisited. Am J Hematol (2014) 0.82
Contrasting the Genetic Architecture of 30 Complex Traits from Summary Association Data. Am J Hum Genet (2016) 0.82
Quantitative trait Loci for resistance to the congenital nephropathy in tensin 2-deficient mice. PLoS One (2014) 0.81
Widespread and dynamic translational control of red blood cell development. Blood (2016) 0.81
Novel loci affecting iron homeostasis and their effects in individuals at risk for hemochromatosis. Nat Commun (2014) 0.81
Comprehensive population-based genome sequencing provides insight into hematopoietic regulatory mechanisms. Proc Natl Acad Sci U S A (2016) 0.80
Drosophila and experimental neurology in the post-genomic era. Exp Neurol (2015) 0.80
Genetic variants at HbF-modifier loci moderate anemia and leukocytosis in sickle cell disease in Tanzania. Am J Hematol (2014) 0.80
The Genetic Landscape of Hematopoietic Stem Cell Frequency in Mice. Stem Cell Reports (2015) 0.79
Genome-wide Analysis of Host-Plasmodium yoelii Interactions Reveals Regulators of the Type I Interferon Response. Cell Rep (2015) 0.79
Defective erythropoiesis in a mouse model of reduced Fbxo7 expression due to decreased p27 expression. J Pathol (2015) 0.79
Protein kinase C inhibitors for immune disorders. Drug Discov Today (2014) 0.79
Significant impact of miRNA-target gene networks on genetics of human complex traits. Sci Rep (2016) 0.79
Integrating Gene Expression with Summary Association Statistics to Identify Genes Associated with 30 Complex Traits. Am J Hum Genet (2017) 0.79
MicroRNAs in Control of Stem Cells in Normal and Malignant Hematopoiesis. Curr Stem Cell Rep (2016) 0.79
Genome wide association analysis of a founder population identified TAF3 as a gene for MCHC in humans. PLoS One (2013) 0.78
Variant-aware saturating mutagenesis using multiple Cas9 nucleases identifies regulatory elements at trait-associated loci. Nat Genet (2017) 0.78
Common Genetic Polymorphisms Influence Blood Biomarker Measurements in COPD. PLoS Genet (2016) 0.77
Gsk3β and Tomm20 are substrates of the SCFFbxo7/PARK15 ubiquitin ligase associated with Parkinson's disease. Biochem J (2016) 0.77
Large-Scale Exome-wide Association Analysis Identifies Loci for White Blood Cell Traits and Pleiotropy with Immune-Mediated Diseases. Am J Hum Genet (2016) 0.77
52 Genetic Loci Influencing Myocardial Mass. J Am Coll Cardiol (2016) 0.77
Letter by Mosley Regarding Article, "Iron Homeostasis and Pulmonary Hypertension: Iron Deficiency Leads to Pulmonary Vascular Remodeling in the Rat". Circ Res (2015) 0.77
Natural selection on HFE in Asian populations contributes to enhanced non-heme iron absorption. BMC Genet (2015) 0.77
From GWAS to function: lessons from blood cells. ISBT Sci Ser (2015) 0.77
Missing heritability: is the gap closing? An analysis of 32 complex traits in the Lifelines Cohort Study. Eur J Hum Genet (2017) 0.76
Genetic Mapping of Novel Loci Affecting Canine Blood Phenotypes. PLoS One (2015) 0.76
BLVRB redox mutation defines heme degradation in a metabolic pathway of enhanced thrombopoiesis in humans. Blood (2016) 0.76
Meta-analysis of rare and common exome chip variants identifies S1PR4 and other loci influencing blood cell traits. Nat Genet (2016) 0.76
Six Novel Loci Associated with Circulating VEGF Levels Identified by a Meta-analysis of Genome-Wide Association Studies. PLoS Genet (2016) 0.76
To respond or not to respond to hydroxyurea in thalassemia: a matter of stress adaptation? Haematologica (2013) 0.76
Integration of Genome-Wide SNP Data and Gene-Expression Profiles Reveals Six Novel Loci and Regulatory Mechanisms for Amino Acids and Acylcarnitines in Whole Blood. PLoS Genet (2015) 0.76
CellMapper: rapid and accurate inference of gene expression in difficult-to-isolate cell types. Genome Biol (2016) 0.76
An Orthologous Epigenetic Gene Expression Signature Derived from Differentiating Embryonic Stem Cells Identifies Regulators of Cardiogenesis. PLoS One (2015) 0.75
Opposing effects on the cell cycle of T lymphocytes by Fbxo7 via Cdk6 and p27. Cell Mol Life Sci (2016) 0.75
Genetic distance as an alternative to physical distance for definition of gene units in association studies. BMC Genomics (2014) 0.75
Signatures of natural selection on genetic variants affecting complex human traits. Appl Transl Genom (2013) 0.75
Circulating blood and platelets supply glycosyltransferases that enable extrinsic extracellular glycosylation. Glycobiology (2016) 0.75
Influence of Genetic Variants in EGF and Other Genes on Hematological Traits in Korean Populations by a Genome-Wide Approach. Biomed Res Int (2015) 0.75
Genome-wide Trans-ethnic Meta-analysis Identifies Seven Genetic Loci Influencing Erythrocyte Traits and a Role for RBPMS in Erythropoiesis. Am J Hum Genet (2016) 0.75
Red blood cell thickness is evolutionarily constrained by slow, hemoglobin-restricted diffusion in cytoplasm. Sci Rep (2016) 0.75
Association Study of rs3184504 C>T Polymorphism in Patients With Coronary Artery Disease. Int J Mol Cell Med (2014) 0.75
Society for Pediatric Research 2015 Young Investigator Award: genetics of human hematopoiesis-what patients can teach us about blood cell production. Pediatr Res (2015) 0.75
SMIM1 variants rs1175550 and rs143702418 independently modulate Vel blood group antigen expression. Sci Rep (2017) 0.75
Signatures of Evolutionary Adaptation in Quantitative Trait Loci Influencing Trace Element Homeostasis in Liver. Mol Biol Evol (2015) 0.75
Replication and Characterization of Association between ABO SNPs and Red Blood Cell Traits by Meta-Analysis in Europeans. PLoS One (2016) 0.75
Erythropoietin in the general population: reference ranges and clinical, biochemical and genetic correlates. PLoS One (2015) 0.75
The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data. Genome Res (2010) 97.51
A genome-wide association study of global gene expression. Nat Genet (2007) 22.98
GCTA: a tool for genome-wide complex trait analysis. Am J Hum Genet (2010) 20.73
A genome-wide transgenic RNAi library for conditional gene inactivation in Drosophila. Nature (2007) 18.38
A simple correction for multiple testing for single-nucleotide polymorphisms in linkage disequilibrium with each other. Am J Hum Genet (2004) 14.76
EnsemblCompara GeneTrees: Complete, duplication-aware phylogenetic trees in vertebrates. Genome Res (2008) 12.72
Estimation of the multiple testing burden for genomewide association studies of nearly all common variants. Genet Epidemiol (2008) 11.28
Stampy: a statistical algorithm for sensitive and fast mapping of Illumina sequence reads. Genome Res (2010) 9.55
Recruitment of stem and progenitor cells from the bone marrow niche requires MMP-9 mediated release of kit-ligand. Cell (2002) 9.36
Identifying relationships among genomic disease regions: predicting genes at pathogenic SNP associations and rare deletions. PLoS Genet (2009) 8.39
The "beta-like-globin" gene domain in human erythroid cells. Proc Natl Acad Sci U S A (1985) 8.35
Densely interconnected transcriptional circuits control cell states in human hematopoiesis. Cell (2011) 7.03
Multiple common variants for celiac disease influencing immune gene expression. Nat Genet (2010) 6.90
A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium. Nat Genet (2009) 6.31
Conditional and joint multiple-SNP analysis of GWAS summary statistics identifies additional variants influencing complex traits. Nat Genet (2012) 5.55
A developmentally stable chromatin structure in the human beta-globin gene cluster. Proc Natl Acad Sci U S A (1986) 5.47
Stem cell factor is encoded at the Sl locus of the mouse and is the ligand for the c-kit tyrosine kinase receptor. Cell (1990) 5.06
F-Seq: a feature density estimator for high-throughput sequence tags. Bioinformatics (2008) 4.77
Mouse development and cell proliferation in the absence of D-cyclins. Cell (2004) 4.69
Genome-wide association study of hematological and biochemical traits in a Japanese population. Nat Genet (2010) 4.36
Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium. Nat Genet (2009) 4.28
A rare variant in MYH6 is associated with high risk of sick sinus syndrome. Nat Genet (2011) 3.94
Meta-analysis of genome-wide association studies in celiac disease and rheumatoid arthritis identifies fourteen non-HLA shared loci. PLoS Genet (2011) 3.68
The three-dimensional folding of the α-globin gene domain reveals formation of chromatin globules. Nat Struct Mol Biol (2010) 3.39
Isolation of active regulatory elements from eukaryotic chromatin using FAIRE (Formaldehyde Assisted Isolation of Regulatory Elements). Methods (2009) 3.16
New gene functions in megakaryopoiesis and platelet formation. Nature (2011) 3.14
A prospective study of anemia status, hemoglobin concentration, and mortality in an elderly cohort: the Cardiovascular Health Study. Arch Intern Med (2005) 3.14
Intragenic enhancers act as alternative promoters. Mol Cell (2012) 2.85
Adaptor protein 3-dependent microtubule-mediated movement of lytic granules to the immunological synapse. Nat Immunol (2003) 2.56
Association of hemoglobin levels with clinical outcomes in acute coronary syndromes. Circulation (2005) 2.24
Genome-wide association study identifies variants in TMPRSS6 associated with hemoglobin levels. Nat Genet (2009) 2.19
False positive peaks in ChIP-seq and other sequencing-based functional assays caused by unannotated high copy number regions. Bioinformatics (2011) 1.85
Analysis of SNPs with an effect on gene expression identifies UBE2L3 and BCL3 as potential new risk genes for Crohn's disease. Hum Mol Genet (2010) 1.78
Disorders of red cell membrane. Br J Haematol (2008) 1.74
Endoplasmic reticulum (ER)-associated degradation of T cell receptor subunits. Involvement of ER-associated ubiquitin-conjugating enzymes (E2s). J Biol Chem (2001) 1.74
High and low hemoglobin levels during pregnancy: differential risks for preterm birth and small for gestational age. Obstet Gynecol (2000) 1.73
Functions and regulation of the 70kDa ribosomal S6 kinases. Int J Biochem Cell Biol (2010) 1.70
Amelioration of Sardinian beta0 thalassemia by genetic modifiers. Blood (2009) 1.62
Maps of open chromatin guide the functional follow-up of genome-wide association signals: application to hematological traits. PLoS Genet (2011) 1.41
Eukaryotic translation initiation factor 5 functions as a GTPase-activating protein. J Biol Chem (2000) 1.35
Hemoglobin level in older persons and incident Alzheimer disease: prospective cohort analysis. Neurology (2011) 1.22
A Drosophila haemocyte-specific protein, hemolectin, similar to human von Willebrand factor. Biochem J (2001) 1.21
HK Utrecht: missense mutation in the active site of human hexokinase associated with hexokinase deficiency and severe nonspherocytic hemolytic anemia. Blood (2002) 1.12
Genetic Loci implicated in erythroid differentiation and cell cycle regulation are associated with red blood cell traits. Mayo Clin Proc (2012) 1.05
Inherited disorders of iron metabolism. Curr Opin Pediatr (2011) 1.03
Reduced dependency on arteriography for penetrating extremity trauma: influence of wound location and noninvasive vascular studies. J Trauma (1990) 0.91
Adenovirus E1A interacts directly with, and regulates the level of expression of, the immunoproteasome component MECL1. Virology (2011) 0.90
Finding the missing heritability of complex diseases. Nature (2009) 67.95
Merlin--rapid analysis of dense genetic maps using sparse gene flow trees. Nat Genet (2001) 53.16
A draft sequence of the rice genome (Oryza sativa L. ssp. indica). Science (2002) 42.78
A common variant in the FTO gene is associated with body mass index and predisposes to childhood and adult obesity. Science (2007) 37.88
A genome-wide association study identifies novel risk loci for type 2 diabetes. Nature (2007) 35.08
Meta-analysis of genome-wide association data and large-scale replication identifies additional susceptibility loci for type 2 diabetes. Nat Genet (2008) 35.06
Common SNPs explain a large proportion of the heritability for human height. Nat Genet (2010) 35.02
Common polygenic variation contributes to risk of schizophrenia and bipolar disorder. Nature (2009) 33.26
Artemisinin resistance in Plasmodium falciparum malaria. N Engl J Med (2009) 33.25
A high-resolution recombination map of the human genome. Nat Genet (2002) 28.66
Biological, clinical and population relevance of 95 loci for blood lipids. Nature (2010) 28.21
Strong association of de novo copy number mutations with autism. Science (2007) 27.84
Newly identified loci that influence lipid concentrations and risk of coronary artery disease. Nat Genet (2008) 25.83
Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index. Nat Genet (2010) 23.08
Six new loci associated with body mass index highlight a neuronal influence on body weight regulation. Nat Genet (2008) 22.35
Genetics of gene expression and its effect on disease. Nature (2008) 21.35
GCTA: a tool for genome-wide complex trait analysis. Am J Hum Genet (2010) 20.73
Common variants at 30 loci contribute to polygenic dyslipidemia. Nat Genet (2008) 20.66
Large recurrent microdeletions associated with schizophrenia. Nature (2008) 20.25
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
Genome-wide association study identifies a second prostate cancer susceptibility variant at 8q24. Nat Genet (2007) 19.18
Variant of transcription factor 7-like 2 (TCF7L2) gene confers risk of type 2 diabetes. Nat Genet (2006) 19.03
A common variant on chromosome 9p21 affects the risk of myocardial infarction. Science (2007) 18.96
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
Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis. Nat Genet (2010) 16.96