Published in Hum Genet on September 12, 2013
Electronic health records-driven phenotyping: challenges, recent advances, and perspectives. J Am Med Inform Assoc (2013) 1.85
Validation of electronic health record phenotyping of bipolar disorder cases and controls. Am J Psychiatry (2014) 1.79
Design and anticipated outcomes of the eMERGE-PGx project: a multicenter pilot for preemptive pharmacogenomics in electronic health record systems. Clin Pharmacol Ther (2014) 1.73
eMERGEing progress in genomics-the first seven years. Front Genet (2014) 1.30
The challenges, advantages and future of phenome-wide association studies. Immunology (2014) 1.04
Phenome-wide association studies (PheWASs) for functional variants. Eur J Hum Genet (2014) 0.99
Extracting research-quality phenotypes from electronic health records to support precision medicine. Genome Med (2015) 0.95
Unravelling the human genome-phenome relationship using phenome-wide association studies. Nat Rev Genet (2016) 0.92
Phenome-wide association studies demonstrating pleiotropy of genetic variants within FTO with and without adjustment for body mass index. Front Genet (2014) 0.92
Phenome-Wide Association Studies: Leveraging Comprehensive Phenotypic and Genotypic Data for Discovery. Curr Genet Med Rep (2015) 0.90
Peax: interactive visual analysis and exploration of complex clinical phenotype and gene expression association. Pac Symp Biocomput (2015) 0.90
Genetics of proteasome diseases. Scientifica (Cairo) (2013) 0.90
Platelet-Related Variants Identified by Exomechip Meta-analysis in 157,293 Individuals. Am J Hum Genet (2016) 0.90
TYK2 protein-coding variants protect against rheumatoid arthritis and autoimmunity, with no evidence of major pleiotropic effects on non-autoimmune complex traits. PLoS One (2015) 0.88
The genetic basis of peripheral arterial disease: current knowledge, challenges, and future directions. Circ Res (2015) 0.88
Application of clinical text data for phenome-wide association studies (PheWASs). Bioinformatics (2015) 0.87
An integrative pipeline for multi-modal discovery of disease relationships. Pac Symp Biocomput (2015) 0.86
Genome-wide Association Study of Platelet Count Identifies Ancestry-Specific Loci in Hispanic/Latino Americans. Am J Hum Genet (2016) 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
Lessons and Implications from Genome-Wide Association Studies (GWAS) Findings of Blood Cell Phenotypes. Genes (Basel) (2014) 0.84
Surveying Recent Themes in Translational Bioinformatics: Big Data in EHRs, Omics for Drugs, and Personal Genomics. Yearb Med Inform (2014) 0.83
Phenome-Wide Association Studies as a Tool to Advance Precision Medicine. Annu Rev Genomics Hum Genet (2016) 0.83
Practical considerations in genomic decision support: The eMERGE experience. J Pathol Inform (2015) 0.82
The ATXN2-SH2B3 locus is associated with peripheral arterial disease: an electronic medical record-based genome-wide association study. Front Genet (2014) 0.81
Platelet count and aging. Haematologica (2014) 0.81
Comparative analyses of population-scale phenomic data in electronic medical records reveal race-specific disease networks. Bioinformatics (2016) 0.80
Investigating the relationship between mitochondrial genetic variation and cardiovascular-related traits to develop a framework for mitochondrial phenome-wide association studies. BioData Min (2014) 0.80
The digital revolution in phenotyping. Brief Bioinform (2015) 0.77
Genome-wide association study identifies candidate Loci associated with platelet count in koreans. Genomics Inform (2014) 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
A Fast and Accurate Algorithm to Test for Binary Phenotypes and Its Application to PheWAS. Am J Hum Genet (2017) 0.76
PREDICTIVE MODELING OF HOSPITAL READMISSION RATES USING ELECTRONIC MEDICAL RECORD-WIDE MACHINE LEARNING: A CASE-STUDY USING MOUNT SINAI HEART FAILURE COHORT. Pac Symp Biocomput (2016) 0.75
Mean Platelet Volume and Arterial Stiffness - Clinical Relationship and Common Genetic Variability. Sci Rep (2017) 0.75
Accelerating Precision Drug Development and Drug Repurposing by Leveraging Human Genetics. Assay Drug Dev Technol (2017) 0.75
Developing Electronic Health Record Algorithms that Accurately Identify Patients with Systemic Lupus Erythematosus. Arthritis Care Res (Hoboken) (2016) 0.75
Identification of ITGA2B and ITGB3 Single-Nucleotide Polymorphisms and Their Influences on the Platelet Function. Biomed Res Int (2016) 0.75
Integrating electronic health record genotype and phenotype datasets to transform patient care. Clin Pharmacol Ther (2016) 0.75
Dissection of the Major Hematopoietic Quantitative Trait Locus in Chromosome 6q23.3 Identifies miR-3662 as a Player in Hematopoiesis and Acute Myeloid Leukemia. Cancer Discov (2016) 0.75
Intracoronary Imaging, Cholesterol Efflux, and Transcriptomics after Intensive Statin Treatment in Diabetes. Sci Rep (2017) 0.75
PLINK: a tool set for whole-genome association and population-based linkage analyses. Am J Hum Genet (2007) 209.92
MaCH: using sequence and genotype data to estimate haplotypes and unobserved genotypes. Genet Epidemiol (2010) 26.41
PANTHER: a library of protein families and subfamilies indexed by function. Genome Res (2003) 21.64
Robust associations of four new chromosome regions from genome-wide analyses of type 1 diabetes. Nat Genet (2007) 19.04
Reactome knowledgebase of human biological pathways and processes. Nucleic Acids Res (2008) 15.69
Variance component model to account for sample structure in genome-wide association studies. Nat Genet (2010) 15.52
LocusZoom: regional visualization of genome-wide association scan results. Bioinformatics (2010) 13.54
Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk. Nature (2011) 13.25
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
Network organization of the human autophagy system. Nature (2010) 11.38
The eMERGE Network: a consortium of biorepositories linked to electronic medical records data for conducting genomic studies. BMC Med Genomics (2011) 9.20
Newly identified genetic risk variants for celiac disease related to the immune response. Nat Genet (2008) 7.63
PheWAS: demonstrating the feasibility of a phenome-wide scan to discover gene-disease associations. Bioinformatics (2010) 7.07
Sequence variants affecting eosinophil numbers associate with asthma and myocardial infarction. Nat Genet (2009) 6.83
A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium. Nat Genet (2009) 6.31
Direct signaling between platelets and cancer cells induces an epithelial-mesenchymal-like transition and promotes metastasis. Cancer Cell (2011) 6.21
A multilocus genetic risk score for coronary heart disease: case-control and prospective cohort analyses. Lancet (2010) 6.07
Exosome: from internal vesicle of the multivesicular body to intercellular signaling device. J Cell Sci (2000) 5.57
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
Linking disease associations with regulatory information in the human genome. Genome Res (2012) 5.47
Genome-wide association study of hematological and biochemical traits in a Japanese population. Nat Genet (2010) 4.36
Contribution of platelets to tumour metastasis. Nat Rev Cancer (2011) 4.16
Platelets in inflammation and atherogenesis. J Clin Invest (2005) 4.10
Variants near FOXE1 are associated with hypothyroidism and other thyroid conditions: using electronic medical records for genome- and phenome-wide studies. Am J Hum Genet (2011) 3.85
Chromatin marks identify critical cell types for fine mapping complex trait variants. Nat Genet (2012) 3.67
A HaemAtlas: characterizing gene expression in differentiated human blood cells. Blood (2009) 3.63
Blood platelets are assembled principally at the ends of proplatelet processes produced by differentiated megakaryocytes. J Cell Biol (1999) 3.26
New gene functions in megakaryopoiesis and platelet formation. Nature (2011) 3.14
Platelet alpha-granules: basic biology and clinical correlates. Blood Rev (2009) 2.72
A genome-wide association study of red blood cell traits using the electronic medical record. PLoS One (2010) 2.59
Genetic and environmental contributions to platelet aggregation: the Framingham heart study. Circulation (2001) 2.54
The use of phenome-wide association studies (PheWAS) for exploration of novel genotype-phenotype relationships and pleiotropy discovery. Genet Epidemiol (2011) 2.54
Quality control procedures for genome-wide association studies. Curr Protoc Hum Genet (2011) 2.48
Signaling during platelet adhesion and activation. Arterioscler Thromb Vasc Biol (2010) 2.43
From disease ontology to disease-ontology lite: statistical methods to adapt a general-purpose ontology for the test of gene-ontology associations. Bioinformatics (2009) 2.37
The biogenesis of platelets from megakaryocyte proplatelets. J Clin Invest (2005) 2.30
Platelet-mediated clumping of Plasmodium falciparum-infected erythrocytes is a common adhesive phenotype and is associated with severe malaria. Proc Natl Acad Sci U S A (2001) 2.27
Platelet phagocytosis and aggregation. J Cell Biol (1965) 2.27
Platelets, petechiae, and preservation of the vascular wall. N Engl J Med (2008) 2.25
Platelet functions beyond hemostasis. J Thromb Haemost (2009) 2.23
Mean platelet volume (MPV) as an inflammatory marker in ankylosing spondylitis and rheumatoid arthritis. Joint Bone Spine (2008) 2.18
Cytoskeletal mechanics of proplatelet maturation and platelet release. J Cell Biol (2010) 2.18
Lnk inhibits erythropoiesis and Epo-dependent JAK2 activation and downstream signaling pathways. Blood (2005) 2.17
Genome- and phenome-wide analyses of cardiac conduction identifies markers of arrhythmia risk. Circulation (2013) 2.06
A novel variant on chromosome 7q22.3 associated with mean platelet volume, counts, and function. Blood (2009) 1.85
A genome-wide association study identifies three loci associated with mean platelet volume. Am J Hum Genet (2008) 1.81
The HBS1L-MYB intergenic region on chromosome 6q23.3 influences erythrocyte, platelet, and monocyte counts in humans. Blood (2007) 1.73
Platelets and cancer metastasis: a causal relationship? Cancer Metastasis Rev (1992) 1.67
Platelet adhesion signalling and the regulation of thrombus formation. J Cell Sci (2004) 1.65
Role of platelets in the development of atherosclerosis. Trends Cardiovasc Med (2004) 1.61
A meta-analysis and genome-wide association study of platelet count and mean platelet volume in african americans. PLoS Genet (2012) 1.53
Platelets and chemokines in atherosclerosis: partners in crime. Circ Res (2005) 1.51
Novel associations for hypothyroidism include known autoimmune risk loci. PLoS One (2012) 1.50
Mechanisms of organelle transport and capture along proplatelets during platelet production. Blood (2005) 1.47
A PheWAS approach in studying HLA-DRB1*1501. Genes Immun (2013) 1.42
Maps of open chromatin guide the functional follow-up of genome-wide association signals: application to hematological traits. PLoS Genet (2011) 1.41
Mapping rare and common causal alleles for complex human diseases. Cell (2011) 1.38
Platelet size in myocardial infarction. Br Med J (Clin Res Ed) (1983) 1.38
The HBS1L-MYB intergenic interval associated with elevated HbF levels shows characteristics of a distal regulatory region in erythroid cells. Blood (2009) 1.36
Molecular basis of platelet granule secretion. Arterioscler Thromb Vasc Biol (2003) 1.29
Sequence variants in three loci influence monocyte counts and erythrocyte volume. Am J Hum Genet (2009) 1.28
Platelet secretory mechanisms. Semin Thromb Hemost (2004) 1.24
The autoimmune disease-associated KIF5A, CD226 and SH2B3 gene variants confer susceptibility for multiple sclerosis. Genes Immun (2010) 1.22
Platelets and cardiovascular disease. Eur J Cardiovasc Nurs (2002) 1.10
Large scale association analysis identifies three susceptibility loci for coronary artery disease. PLoS One (2011) 1.07
The association of the C-terminal region of beta I sigma II spectrin to brain membranes is mediated by a PH domain, does not require membrane proteins, and coincides with a inositol-1,4,5 triphosphate binding site. Biochem Biophys Res Commun (1995) 1.03
Determinants of platelet count in humans. Haematologica (2011) 1.00
Importance of platelets and platelet response in acute coronary syndromes. Cleve Clin J Med (2009) 0.99
The genetics of normal platelet reactivity. Blood (2010) 0.98
The role of platelets in ischemic stroke. Neurology (1998) 0.95
Genetic influences on peripheral blood cell counts: a study in baboons. Blood (2005) 0.94
RNAi-based functional profiling of loci from blood lipid genome-wide association studies identifies genes with cholesterol-regulatory function. PLoS Genet (2013) 0.94
Proteolysis of platelet receptors in humans and other species. Biol Chem (2010) 0.91
Investigation of type 1 diabetes and coeliac disease susceptibility loci for association with juvenile idiopathic arthritis. Ann Rheum Dis (2010) 0.90
Platelet signal transduction pathways: could we organize them into a 'hierarchy'? Haemostasis (1999) 0.89
Genetics of platelet reactivity in normal, healthy individuals. J Thromb Haemost (2009) 0.86
Endocytosis and storage of plasma factor V by human megakaryocytes. Thromb Haemost (2005) 0.83
The genetics of common variation affecting platelet development, function and pharmaceutical targeting. J Thromb Haemost (2011) 0.82
Tyrosine kinases in platelet signalling. Br J Haematol (1993) 0.82
Platelet removal from the circulation by the liver and spleen. Am J Physiol (1978) 0.82
Platelets alter tumor cell attributes to propel metastasis: programming in transit. Cancer Cell (2011) 0.82
The impact of peripheral arterial disease on circulating platelets. Thromb Res (2004) 0.81
Fibrinogen receptor and platelet signalling. Blood Coagul Fibrinolysis (1999) 0.79
Erlotinib plus gemcitabine compared with gemcitabine alone in patients with advanced pancreatic cancer: a phase III trial of the National Cancer Institute of Canada Clinical Trials Group. J Clin Oncol (2007) 25.52
A genome-wide association study identifies alleles in FGFR2 associated with risk of sporadic postmenopausal breast cancer. Nat Genet (2007) 22.96
Mayo clinical Text Analysis and Knowledge Extraction System (cTAKES): architecture, component evaluation and applications. J Am Med Inform Assoc (2010) 13.18
Erlotinib in lung cancer - molecular and clinical predictors of outcome. N Engl J Med (2005) 13.01
Prepublication data sharing. Nature (2009) 12.24
BioPortal: ontologies and integrated data resources at the click of a mouse. Nucleic Acids Res (2009) 10.58
Vinorelbine plus cisplatin vs. observation in resected non-small-cell lung cancer. N Engl J Med (2005) 10.58
Gene expression-based survival prediction in lung adenocarcinoma: a multi-site, blinded validation study. Nat Med (2008) 10.12
Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer's disease. Nat Genet (2011) 10.07
Multifactor dimensionality reduction software for detecting gene-gene and gene-environment interactions. Bioinformatics (2003) 9.91
The eMERGE Network: a consortium of biorepositories linked to electronic medical records data for conducting genomic studies. BMC Med Genomics (2011) 9.20
Intermittent androgen suppression for rising PSA level after radiotherapy. N Engl J Med (2012) 8.64
Genome partitioning of genetic variation for complex traits using common SNPs. Nat Genet (2011) 8.57
A multistage genome-wide association study in breast cancer identifies two new risk alleles at 1p11.2 and 14q24.1 (RAD51L1). Nat Genet (2009) 8.39
Lung adjuvant cisplatin evaluation: a pooled analysis by the LACE Collaborative Group. J Clin Oncol (2008) 7.35
Newly discovered breast cancer susceptibility loci on 3p24 and 17q23.2. Nat Genet (2009) 7.30
The incidentalome: a threat to genomic medicine. JAMA (2006) 7.24
Genetic determinants of response to warfarin during initial anticoagulation. N Engl J Med (2008) 7.13
PheWAS: demonstrating the feasibility of a phenome-wide scan to discover gene-disease associations. Bioinformatics (2010) 7.07
High-resolution whole-genome association study of Parkinson disease. Am J Hum Genet (2005) 6.86
Ethical and practical guidelines for reporting genetic research results to study participants: updated guidelines from a National Heart, Lung, and Blood Institute working group. Circ Cardiovasc Genet (2010) 6.74
The Group Health medical home at year two: cost savings, higher patient satisfaction, and less burnout for providers. Health Aff (Millwood) (2010) 6.60
Robust replication of genotype-phenotype associations across multiple diseases in an electronic medical record. Am J Hum Genet (2010) 6.44
Effectiveness of home blood pressure monitoring, Web communication, and pharmacist care on hypertension control: a randomized controlled trial. JAMA (2008) 6.04
MedEx: a medication information extraction system for clinical narratives. J Am Med Inform Assoc (2010) 6.01
Electronic medical records for genetic research: results of the eMERGE consortium. Sci Transl Med (2011) 5.82
Combined androgen deprivation therapy and radiation therapy for locally advanced prostate cancer: a randomised, phase 3 trial. Lancet (2011) 5.76
Dementia and Alzheimer disease incidence: a prospective cohort study. Arch Neurol (2002) 5.69
Patient-centered medical home demonstration: a prospective, quasi-experimental, before and after evaluation. Am J Manag Care (2009) 5.65
New loci associated with kidney function and chronic kidney disease. Nat Genet (2010) 5.58
Loss-of-function mutations in APOC3, triglycerides, and coronary disease. N Engl J Med (2014) 5.47
Genome-wide association study identifies variants in the ABO locus associated with susceptibility to pancreatic cancer. Nat Genet (2009) 5.14
Glucose levels and risk of dementia. N Engl J Med (2013) 4.95
Inactivating mutations in NPC1L1 and protection from coronary heart disease. N Engl J Med (2014) 4.94
Genome sequence of Shigella flexneri 2a: insights into pathogenicity through comparison with genomes of Escherichia coli K12 and O157. Nucleic Acids Res (2002) 4.92
A genome-wide association study identifies pancreatic cancer susceptibility loci on chromosomes 13q22.1, 1q32.1 and 5p15.33. Nat Genet (2010) 4.89
Implementing genomic medicine in the clinic: the future is here. Genet Med (2013) 4.89
Systematic comparison of phenome-wide association study of electronic medical record data and genome-wide association study data. Nat Biotechnol (2013) 4.85
A genome-wide association study identifies protein quantitative trait loci (pQTLs). PLoS Genet (2008) 4.75
Annotating the human genome with Disease Ontology. BMC Genomics (2009) 4.71
GWAS of 126,559 individuals identifies genetic variants associated with educational attainment. Science (2013) 4.71
Reporting genetic results in research studies: summary and recommendations of an NHLBI working group. Am J Med Genet A (2006) 4.56
Exercise plus behavioral management in patients with Alzheimer disease: a randomized controlled trial. JAMA (2003) 4.54
Pathological correlates of dementia in a longitudinal, population-based sample of aging. Ann Neurol (2007) 4.47
The Electronic Medical Records and Genomics (eMERGE) Network: past, present, and future. Genet Med (2013) 4.37
A genome-wide approach accounting for body mass index identifies genetic variants influencing fasting glycemic traits and insulin resistance. Nat Genet (2012) 4.37
Association between acute care and critical illness hospitalization and cognitive function in older adults. JAMA (2010) 4.36
Leveraging informatics for genetic studies: use of the electronic medical record to enable a genome-wide association study of peripheral arterial disease. J Am Med Inform Assoc (2010) 4.33
Collaborative analysis of alpha-synuclein gene promoter variability and Parkinson disease. JAMA (2006) 4.26
Use of diverse electronic medical record systems to identify genetic risk for type 2 diabetes within a genome-wide association study. J Am Med Inform Assoc (2011) 4.20