Published in Nat Rev Genet on February 15, 2016
Bayesian analysis of genetic association across tree-structured routine healthcare data in the UK Biobank. Nat Genet (2017) 1.07
The Human Phenotype Ontology in 2017. Nucleic Acids Res (2016) 1.01
The road to precision psychiatry: translating genetics into disease mechanisms. Nat Neurosci (2016) 0.95
Phenome-Wide Association Study for Alcohol and Nicotine Risk Alleles in 26394 Women. Neuropsychopharmacology (2016) 0.84
Network biology concepts in complex disease comorbidities. Nat Rev Genet (2016) 0.82
Comprehensive population-based genome sequencing provides insight into hematopoietic regulatory mechanisms. Proc Natl Acad Sci U S A (2016) 0.80
Biomarkers of risk to develop lung cancer in the new screening era. Ann Transl Med (2016) 0.78
Phenome-wide scanning identifies multiple diseases and disease severity phenotypes associated with HLA variants. Sci Transl Med (2017) 0.77
Omics-Based Strategies in Precision Medicine: Toward a Paradigm Shift in Inborn Errors of Metabolism Investigations. Int J Mol Sci (2016) 0.76
Genetics of coronary artery disease: discovery, biology and clinical translation. Nat Rev Genet (2017) 0.76
Allergy-specific Phenome-Wide Association Study for Immunogenes in Turkish Children. Sci Rep (2016) 0.76
Multiphenotype association study of patients randomized to initiate antiretroviral regimens in AIDS Clinical Trials Group protocol A5202. Pharmacogenet Genomics (2017) 0.75
Defining the complex phenotype of severe systemic loxoscelism using a large electronic health record cohort. PLoS One (2017) 0.75
Human genetics as a model for target validation: finding new therapies for diabetes. Diabetologia (2017) 0.75
Evidence for extensive pleiotropy among pharmacogenes. Pharmacogenomics (2016) 0.75
Phenome-wide association study for CYP2A6 alleles: rs113288603 is associated with hearing loss symptoms in elderly smokers. Sci Rep (2017) 0.75
Comorbidities in the diseasome are more apparent than real: What Bayesian filtering reveals about the comorbidities of depression. PLoS Comput Biol (2017) 0.75
Initial sequencing and analysis of the human genome. Nature (2001) 212.86
Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls. Nature (2007) 144.95
The sequence of the human genome. Science (2001) 101.55
Third Report of the National Cholesterol Education Program (NCEP) Expert Panel on Detection, Evaluation, and Treatment of High Blood Cholesterol in Adults (Adult Treatment Panel III) final report. Circulation (2002) 76.93
Potential etiologic and functional implications of genome-wide association loci for human diseases and traits. Proc Natl Acad Sci U S A (2009) 54.68
Genome-wide association analysis identifies loci for type 2 diabetes and triglyceride levels. Science (2007) 51.70
Genomewide association analysis of coronary artery disease. N Engl J Med (2007) 24.38
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
A common variant on chromosome 9p21 affects the risk of myocardial infarction. Science (2007) 18.96
The NCBI dbGaP database of genotypes and phenotypes. Nat Genet (2007) 17.93
Risk alleles for multiple sclerosis identified by a genomewide study. N Engl J Med (2007) 17.06
A new initiative on precision medicine. N Engl J Med (2015) 16.03
Genetic mapping in human disease. Science (2008) 15.12
The NHGRI GWAS Catalog, a curated resource of SNP-trait associations. Nucleic Acids Res (2013) 14.23
Association of the T-cell regulatory gene CTLA4 with susceptibility to autoimmune disease. Nature (2003) 13.00
Personal omics profiling reveals dynamic molecular and medical phenotypes. Cell (2012) 12.32
Identifying personal genomes by surname inference. Science (2013) 10.79
Trait-associated SNPs are more likely to be eQTLs: annotation to enhance discovery from GWAS. PLoS Genet (2010) 10.75
Identifying patient smoking status from medical discharge records. J Am Med Inform Assoc (2007) 10.35
High-resolution mapping of expression-QTLs yields insight into human gene regulation. PLoS Genet (2008) 9.68
The eMERGE Network: a consortium of biorepositories linked to electronic medical records data for conducting genomic studies. BMC Med Genomics (2011) 9.20
Initial impact of the sequencing of the human genome. Nature (2011) 9.18
Genetic studies of body mass index yield new insights for obesity biology. Nature (2015) 8.27
Variants conferring risk of atrial fibrillation on chromosome 4q25. Nature (2007) 8.03
Mapping complex disease traits with global gene expression. Nat Rev Genet (2009) 7.44
Meta-analysis of genome scans and replication identify CD6, IRF8 and TNFRSF1A as new multiple sclerosis susceptibility loci. Nat Genet (2009) 7.16
Common variants at CD40 and other loci confer risk of rheumatoid arthritis. Nat Genet (2008) 7.07
PheWAS: demonstrating the feasibility of a phenome-wide scan to discover gene-disease associations. Bioinformatics (2010) 7.07
Needles in stacks of needles: finding disease-causal variants in a wealth of genomic data. Nat Rev Genet (2011) 6.52
Robust replication of genotype-phenotype associations across multiple diseases in an electronic medical record. Am J Hum Genet (2010) 6.44
DNase I sensitivity QTLs are a major determinant of human expression variation. Nature (2012) 6.17
MedEx: a medication information extraction system for clinical narratives. J Am Med Inform Assoc (2010) 6.01
Defining the role of common variation in the genomic and biological architecture of adult human height. Nat Genet (2014) 5.78
The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data. Nucleic Acids Res (2013) 5.66
Patterns of cis regulatory variation in diverse human populations. PLoS Genet (2012) 5.28
Web-based, participant-driven studies yield novel genetic associations for common traits. PLoS Genet (2010) 5.02
Analysis of families in the multiple autoimmune disease genetics consortium (MADGC) collection: the PTPN22 620W allele associates with multiple autoimmune phenotypes. Am J Hum Genet (2005) 5.00
Systematic comparison of phenome-wide association study of electronic medical record data and genome-wide association study data. Nat Biotechnol (2013) 4.85
Detecting shared pathogenesis from the shared genetics of immune-related diseases. Nat Rev Genet (2009) 4.79
Genome-wide association studies in diverse populations. Nat Rev Genet (2010) 4.68
A genome-wide association study identifies novel alleles associated with hair color and skin pigmentation. PLoS Genet (2008) 4.57
Mining electronic health records: towards better research applications and clinical care. Nat Rev Genet (2012) 4.42
Pervasive sharing of genetic effects in autoimmune disease. PLoS Genet (2011) 4.42
An Environment-Wide Association Study (EWAS) on type 2 diabetes mellitus. PLoS One (2010) 4.42
Common disorders are quantitative traits. Nat Rev Genet (2009) 4.34
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
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
The PhenX Toolkit: get the most from your measures. Am J Epidemiol (2011) 4.19
Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility. Nat Genet (2014) 4.13
A sequence variant in ZFHX3 on 16q22 associates with atrial fibrillation and ischemic stroke. Nat Genet (2009) 4.11
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
Using electronic health records to drive discovery in disease genomics. Nat Rev Genet (2011) 3.80
The human phenome project. Nat Genet (2003) 3.75
What makes UK Biobank special? Lancet (2012) 3.72
Pleiotropy in complex traits: challenges and strategies. Nat Rev Genet (2013) 3.65
Abundant pleiotropy in human complex diseases and traits. Am J Hum Genet (2011) 3.60
The pleiotropic structure of the genotype-phenotype map: the evolvability of complex organisms. Nat Rev Genet (2011) 3.57
Meta-analysis in genome-wide association studies. Pharmacogenomics (2009) 3.39
Identification of genomic predictors of atrioventricular conduction: using electronic medical records as a tool for genome science. Circulation (2010) 3.35
Return of individual research results from genome-wide association studies: experience of the Electronic Medical Records and Genomics (eMERGE) Network. Genet Med (2012) 3.29
Normalized names for clinical drugs: RxNorm at 6 years. J Am Med Inform Assoc (2011) 3.04
The Next PAGE in understanding complex traits: design for the analysis of Population Architecture Using Genetics and Epidemiology (PAGE) Study. Am J Epidemiol (2011) 2.98
Computational phenotype discovery using unsupervised feature learning over noisy, sparse, and irregular clinical data. PLoS One (2013) 2.81
NCBI's Database of Genotypes and Phenotypes: dbGaP. Nucleic Acids Res (2013) 2.79
A multivariate test of association. Bioinformatics (2008) 2.72
Meta-analysis methods for genome-wide association studies and beyond. Nat Rev Genet (2013) 2.58
MultiPhen: joint model of multiple phenotypes can increase discovery in GWAS. PLoS One (2012) 2.56
Return of genomic results to research participants: the floor, the ceiling, and the choices in between. Am J Hum Genet (2014) 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
Chapter 11: Genome-wide association studies. PLoS Comput Biol (2012) 2.46
Accuracy of administrative coding for type 2 diabetes in children, adolescents, and young adults. Diabetes Care (2007) 2.45
Pleiotropy and principal components of heritability combine to increase power for association analysis. Genet Epidemiol (2008) 2.39
Variation and genetic control of protein abundance in humans. Nature (2013) 2.32
Bivariate association analyses for the mixture of continuous and binary traits with the use of extended generalized estimating equations. Genet Epidemiol (2009) 2.19
Controls of nucleosome positioning in the human genome. PLoS Genet (2012) 2.14
Genetic determinants of lipid traits in diverse populations from the population architecture using genomics and epidemiology (PAGE) study. PLoS Genet (2011) 2.13
Reform of Clinical Research Regulations, Finally. N Engl J Med (2015) 2.10
Genome- and phenome-wide analyses of cardiac conduction identifies markers of arrhythmia risk. Circulation (2013) 2.06
Informed consent: a broken contract. Nature (2012) 2.04
Genomic variation. Impact of regulatory variation from RNA to protein. Science (2014) 1.91
One hundred years of pleiotropy: a retrospective. Genetics (2010) 1.91
A unified framework for association analysis with multiple related phenotypes. PLoS One (2013) 1.81
Genome-wide association studies and beyond. Annu Rev Public Health (2010) 1.73
Phenome-wide association study (PheWAS) for detection of pleiotropy within the Population Architecture using Genomics and Epidemiology (PAGE) Network. PLoS Genet (2013) 1.70
Identifiability in biobanks: models, measures, and mitigation strategies. Hum Genet (2011) 1.66
Construction of atorvastatin dose-response relationships using data from a large population-based DNA biobank. Basic Clin Pharmacol Toxicol (2007) 1.64
TATES: efficient multivariate genotype-phenotype analysis for genome-wide association studies. PLoS Genet (2013) 1.63
Finding our way through phenotypes. PLoS Biol (2015) 1.53
The Human Phenotype Ontology: Semantic Unification of Common and Rare Disease. Am J Hum Genet (2015) 1.52
Gene-environment interactions in human disease: nuisance or opportunity? Trends Genet (2011) 1.50
A genome-wide pleiotropy scan for prostate cancer risk. Eur Urol (2014) 1.48
Systematic identification of interaction effects between genome- and environment-wide associations in type 2 diabetes mellitus. Hum Genet (2013) 1.48
The HLA Region and Autoimmune Disease: Associations and Mechanisms of Action. Curr Genomics (2007) 1.47
A genome- and phenome-wide association study to identify genetic variants influencing platelet count and volume and their pleiotropic effects. Hum Genet (2013) 1.47
A comparison of phenotype definitions for diabetes mellitus. J Am Med Inform Assoc (2013) 1.47
Associations of autoantibodies, autoimmune risk alleles, and clinical diagnoses from the electronic medical records in rheumatoid arthritis cases and non-rheumatoid arthritis controls. Arthritis Rheum (2013) 1.43
Knowledge-driven multi-locus analysis reveals gene-gene interactions influencing HDL cholesterol level in two independent EMR-linked biobanks. PLoS One (2011) 1.42
A PheWAS approach in studying HLA-DRB1*1501. Genes Immun (2013) 1.42
A comparison of multivariate genome-wide association methods. PLoS One (2014) 1.38