Published in Nat Rev Drug Discov on July 19, 2013
Genetics of rheumatoid arthritis contributes to biology and drug discovery. Nature (2013) 6.57
Inactivating mutations in NPC1L1 and protection from coronary heart disease. N Engl J Med (2014) 4.94
Loss-of-function mutations in SLC30A8 protect against type 2 diabetes. Nat Genet (2014) 4.24
The support of human genetic evidence for approved drug indications. Nat Genet (2015) 3.03
Large-scale genomics unveils the genetic architecture of psychiatric disorders. Nat Neurosci (2014) 1.64
Cardiometabolic effects of genetic upregulation of the interleukin 1 receptor antagonist: a Mendelian randomisation analysis. Lancet Diabetes Endocrinol (2015) 1.64
Phenotypic Characterization of Genetically Lowered Human Lipoprotein(a) Levels. J Am Coll Cardiol (2016) 1.46
Type 2 Diabetes Variants Disrupt Function of SLC16A11 through Two Distinct Mechanisms. Cell (2017) 1.38
Function, therapeutic potential and cell biology of BACE proteases: current status and future prospects. J Neurochem (2014) 1.37
Precision medicine for cancer with next-generation functional diagnostics. Nat Rev Cancer (2015) 1.24
Modeling Linkage Disequilibrium Increases Accuracy of Polygenic Risk Scores. Am J Hum Genet (2015) 1.21
The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. Cell (2016) 1.13
Ten things you should know about protein kinases: IUPHAR Review 14. Br J Pharmacol (2015) 1.06
Genetic studies of quantitative MCI and AD phenotypes in ADNI: Progress, opportunities, and plans. Alzheimers Dement (2015) 1.03
Progress and promise in understanding the genetic basis of common diseases. Proc Biol Sci (2015) 1.02
Advancing Biological Understanding and Therapeutics Discovery with Small-Molecule Probes. Cell (2015) 0.96
The Genetics of Stress-Related Disorders: PTSD, Depression, and Anxiety Disorders. Neuropsychopharmacology (2015) 0.96
The road to precision psychiatry: translating genetics into disease mechanisms. Nat Neurosci (2016) 0.95
The discovery of medicines for rare diseases. Future Med Chem (2014) 0.94
Targeting the schizophrenia genome: a fast track strategy from GWAS to clinic. Mol Psychiatry (2015) 0.93
Small molecule screening in human induced pluripotent stem cell-derived terminal cell types. J Biol Chem (2013) 0.93
Phenome-driven disease genetics prediction toward drug discovery. Bioinformatics (2015) 0.91
Vision from next generation sequencing: multi-dimensional genome-wide analysis for producing gene regulatory networks underlying retinal development, aging and disease. Prog Retin Eye Res (2015) 0.90
Beyond Mendelian randomization: how to interpret evidence of shared genetic predictors. J Clin Epidemiol (2015) 0.90
Association Between Low-Density Lipoprotein Cholesterol-Lowering Genetic Variants and Risk of Type 2 Diabetes: A Meta-analysis. JAMA (2016) 0.89
Genome-wide association studies of late-onset cardiovascular disease. J Mol Cell Cardiol (2015) 0.89
A genomic approach to therapeutic target validation identifies a glucose-lowering GLP1R variant protective for coronary heart disease. Sci Transl Med (2016) 0.89
Sensitivity Analyses for Robust Causal Inference from Mendelian Randomization Analyses with Multiple Genetic Variants. Epidemiology (2017) 0.88
Recent genetic findings in schizophrenia and their therapeutic relevance. J Psychopharmacol (2014) 0.88
Schizophrenia genetics: emerging themes for a complex disorder. Mol Psychiatry (2014) 0.88
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
Pharmacologic management of Duchenne muscular dystrophy: target identification and preclinical trials. ILAR J (2014) 0.88
Genetics of rheumatoid arthritis in Asia--present and future. Nat Rev Rheumatol (2015) 0.87
The scientific quest for lasting youth: prospects for curing aging. Rejuvenation Res (2014) 0.87
Genetics of human metabolism: an update. Hum Mol Genet (2015) 0.87
Selecting instruments for Mendelian randomization in the wake of genome-wide association studies. Int J Epidemiol (2016) 0.85
Leveraging big data to transform target selection and drug discovery. Clin Pharmacol Ther (2016) 0.84
Pathways targeted by antidiabetes drugs are enriched for multiple genes associated with type 2 diabetes risk. Diabetes (2014) 0.83
A genomics-based systems approach towards drug repositioning for rheumatoid arthritis. BMC Genomics (2016) 0.82
Type 2 diabetes: genetic data sharing to advance complex disease research. Nat Rev Genet (2016) 0.82
Improving the translation of animal ischemic stroke studies to humans. Metab Brain Dis (2014) 0.81
Unlocking the treasure trove: from genes to schizophrenia biology. Schizophr Bull (2014) 0.81
Open Targets: a platform for therapeutic target identification and validation. Nucleic Acids Res (2016) 0.81
The genetics of drug efficacy: opportunities and challenges. Nat Rev Genet (2016) 0.81
Protective alleles and modifier variants in human health and disease. Nat Rev Genet (2015) 0.81
Real-Time Biological Annotation of Synthetic Compounds. J Am Chem Soc (2016) 0.80
Innovative approaches to bipolar disorder and its treatment. Ann N Y Acad Sci (2016) 0.80
Hallmarks of therapeutic management of the cystic fibrosis functional landscape. J Cyst Fibros (2015) 0.79
Small-molecule control of cytokine function: new opportunities for treating immune disorders. Curr Opin Chem Biol (2014) 0.79
Pharmacogenomics in diabetes mellitus: insights into drug action and drug discovery. Nat Rev Endocrinol (2016) 0.79
Niemann-Pick C1-Like 1 protein: Another target for treatment of dyslipidemia? Evidence from the Myocardial Infarction Genetic Consortium and IMPROVE-IT trials. Glob Cardiol Sci Pract (2014) 0.79
Genetics, genomics, and their relevance to pathology and therapy. Best Pract Res Clin Rheumatol (2014) 0.79
Precision medicine informatics. J Am Med Inform Assoc (2016) 0.79
In vitro clinical trials: the future of cell-based profiling. Front Pharmacol (2014) 0.78
The Validation of Nematode-Specific Acetylcholine-Gated Chloride Channels as Potential Anthelmintic Drug Targets. PLoS One (2015) 0.78
Can animal data translate to innovations necessary for a new era of patient-centred and individualised healthcare? Bias in preclinical animal research. BMC Med Ethics (2015) 0.78
Short-interference RNAs: becoming medicines. EXCLI J (2015) 0.78
Leveraging human genetics to guide drug target discovery. Trends Cardiovasc Med (2016) 0.78
Genetic studies of rheumatoid arthritis. Proc Jpn Acad Ser B Phys Biol Sci (2015) 0.77
Genetic invalidation of Lp-PLA2 as a therapeutic target: Large-scale study of five functional Lp-PLA2-lowering alleles. Eur J Prev Cardiol (2016) 0.77
A systematic assessment of linking gene expression with genetic variants for prioritizing candidate targets. Pac Symp Biocomput (2015) 0.76
Human Knockout Carriers: Dead, Diseased, Healthy, or Improved? Trends Mol Med (2016) 0.76
PCSK9 inhibitors are go. Nat Rev Drug Discov (2015) 0.76
Update on the genetic architecture of rheumatoid arthritis. Nat Rev Rheumatol (2016) 0.76
Genetics of coronary artery disease: discovery, biology and clinical translation. Nat Rev Genet (2017) 0.76
When is it MODY? Challenges in the Interpretation of Sequence Variants in MODY Genes. Rev Diabet Stud (2016) 0.76
A protein-truncating R179X variant in RNF186 confers protection against ulcerative colitis. Nat Commun (2016) 0.76
Internal exposure dynamics drive the Adverse Outcome Pathways of synthetic glucocorticoids in fish. Sci Rep (2016) 0.76
Neuroinflammation - using big data to inform clinical practice. Nat Rev Neurol (2016) 0.75
Interactions within the MHC contribute to the genetic architecture of celiac disease. PLoS One (2017) 0.75
Advances in understanding Alzheimer's disease, and the contributions of current Alzheimer research: ten years on and beyond. Curr Alzheimer Res (2014) 0.75
Drug discovery in focal and segmental glomerulosclerosis. Kidney Int (2016) 0.75
Coeliac disease and autoimmune disease-genetic overlap and screening. Nat Rev Gastroenterol Hepatol (2015) 0.75
Eulogy for the Metabolic Clinical Investigator? Diabetes (2016) 0.75
Accelerating Precision Drug Development and Drug Repurposing by Leveraging Human Genetics. Assay Drug Dev Technol (2017) 0.75
Genetics of Diabetic Kidney Disease-From the Worst of Nightmares to the Light of Dawn? J Am Soc Nephrol (2016) 0.75
Opportunities and challenges of whole-genome and -exome sequencing. BMC Genet (2017) 0.75
Human genetics as a model for target validation: finding new therapies for diabetes. Diabetologia (2017) 0.75
Translating Stem Cell Biology Into Drug Discovery. Drug Target Rev (2016) 0.75
Connecting genetic risk to disease end points through the human blood plasma proteome. Nat Commun (2017) 0.75
Meta-analysis identifies novel risk loci and yields systematic insights into the biology of male-pattern baldness. Nat Commun (2017) 0.75
Integrated Approaches to Drug Discovery for Oxidative Stress-Related Retinal Diseases. Oxid Med Cell Longev (2016) 0.75
A data-driven modeling approach to identify disease-specific multi-organ networks driving physiological dysregulation. PLoS Comput Biol (2017) 0.75
A Loss-Of-Function Splice Acceptor Variant in IGF2 is Protective for Type 2 Diabetes. Diabetes (2017) 0.75
Mining the Genome for Therapeutic Targets. Diabetes (2017) 0.75
A rare coding allele in IFIH1 is protective for psoriatic arthritis. Ann Rheum Dis (2017) 0.75
Identification of candidate protective variants for common diseases and evaluation of their protective potential. BMC Genomics (2017) 0.75
Using omics approaches to understand pulmonary diseases. Respir Res (2017) 0.75
A haplotype map of the human genome. Nature (2005) 105.70
A method and server for predicting damaging missense mutations. Nat Methods (2010) 78.53
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
Genetic dissection of complex traits: guidelines for interpreting and reporting linkage results. Nat Genet (1995) 49.77
Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm. Nat Protoc (2009) 38.62
Genome-wide association studies for common diseases and complex traits. Nat Rev Genet (2005) 33.96
Identification of the cystic fibrosis gene: genetic analysis. Science (1989) 33.61
Complement factor H polymorphism in age-related macular degeneration. Science (2005) 31.10
Genome-wide association studies for complex traits: consensus, uncertainty and challenges. Nat Rev Genet (2008) 30.94
Sequence variations in PCSK9, low LDL, and protection against coronary heart disease. N Engl J Med (2006) 23.83
Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans. Nat Genet (2008) 20.73
Common variants at 30 loci contribute to polygenic dyslipidemia. Nat Genet (2008) 20.66
Identification and characterization of a spinal muscular atrophy-determining gene. Cell (1995) 17.41
Rare variants of IFIH1, a gene implicated in antiviral responses, protect against type 1 diabetes. Science (2009) 16.35
Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. Nature (2012) 16.13
Can the pharmaceutical industry reduce attrition rates? Nat Rev Drug Discov (2004) 15.57
The common PPARgamma Pro12Ala polymorphism is associated with decreased risk of type 2 diabetes. Nat Genet (2000) 15.19
Genetic mapping in human disease. Science (2008) 15.12
How to improve R&D productivity: the pharmaceutical industry's grand challenge. Nat Rev Drug Discov (2010) 14.09
Network medicine: a network-based approach to human disease. Nat Rev Genet (2011) 14.07
Five years of GWAS discovery. Am J Hum Genet (2012) 12.97
A systematic survey of loss-of-function variants in human protein-coding genes. Science (2012) 12.25
Low LDL cholesterol in individuals of African descent resulting from frequent nonsense mutations in PCSK9. Nat Genet (2005) 12.12
Recurrent de novo point mutations in lamin A cause Hutchinson-Gilford progeria syndrome. Nature (2003) 12.10
Mutations in PCSK9 cause autosomal dominant hypercholesterolemia. Nat Genet (2003) 11.67
Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene. Nature (1991) 11.44
Dysregulation of TGF-beta activation contributes to pathogenesis in Marfan syndrome. Nat Genet (2003) 11.01
Trait-associated SNPs are more likely to be eQTLs: annotation to enhance discovery from GWAS. PLoS Genet (2010) 10.75
Uncovering the roles of rare variants in common disease through whole-genome sequencing. Nat Rev Genet (2010) 9.53
A CFTR potentiator in patients with cystic fibrosis and the G551D mutation. N Engl J Med (2011) 8.73
Identifying relationships among genomic disease regions: predicting genes at pathogenic SNP associations and rare deletions. PLoS Genet (2009) 8.39
Effect of a monoclonal antibody to PCSK9 on LDL cholesterol. N Engl J Med (2012) 8.24
A mutation in APP protects against Alzheimer's disease and age-related cognitive decline. Nature (2012) 8.10
Lamin a truncation in Hutchinson-Gilford progeria. Science (2003) 8.01
A spectrum of PCSK9 alleles contributes to plasma levels of low-density lipoprotein cholesterol. Am J Hum Genet (2006) 7.89
Common variation in three genes, including a noncoding variant in CFH, strongly influences risk of age-related macular degeneration. Nat Genet (2006) 7.49
Trial watch: Phase II failures: 2008-2010. Nat Rev Drug Discov (2011) 7.47
Angiotensin II blockade and aortic-root dilation in Marfan's syndrome. N Engl J Med (2008) 7.31
Common variants at CD40 and other loci confer risk of rheumatoid arthritis. Nat Genet (2008) 7.07
An SCN9A channelopathy causes congenital inability to experience pain. Nature (2006) 7.01
Replication of putative candidate-gene associations with rheumatoid arthritis in >4,000 samples from North America and Sweden: association of susceptibility with PTPN22, CTLA4, and PADI4. Am J Hum Genet (2005) 6.61
Proteins encoded in genomic regions associated with immune-mediated disease physically interact and suggest underlying biology. PLoS Genet (2011) 6.20
Deep resequencing of GWAS loci identifies independent rare variants associated with inflammatory bowel disease. Nat Genet (2011) 5.58
Diagnosing the decline in pharmaceutical R&D efficiency. Nat Rev Drug Discov (2012) 5.55
Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture. Nat Genet (2012) 5.48
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
The interleukin-6 receptor as a target for prevention of coronary heart disease: a mendelian randomisation analysis. Lancet (2012) 4.87
Tofacitinib or adalimumab versus placebo in rheumatoid arthritis. N Engl J Med (2012) 4.85
A QTL influencing F cell production maps to a gene encoding a zinc-finger protein on chromosome 2p15. Nat Genet (2007) 4.61
DNA polymorphisms at the BCL11A, HBS1L-MYB, and beta-globin loci associate with fetal hemoglobin levels and pain crises in sickle cell disease. Proc Natl Acad Sci U S A (2008) 4.46
High-density genetic mapping identifies new susceptibility loci for rheumatoid arthritis. Nat Genet (2012) 4.46
Monogenic hypercholesterolemia: new insights in pathogenesis and treatment. J Clin Invest (2003) 4.42
Bayesian inference analyses of the polygenic architecture of rheumatoid arthritis. Nat Genet (2012) 4.41
Adenoviral-mediated expression of Pcsk9 in mice results in a low-density lipoprotein receptor knockout phenotype. Proc Natl Acad Sci U S A (2004) 4.27
Variation in complement factor 3 is associated with risk of age-related macular degeneration. Nat Genet (2007) 4.23
Placebo-controlled trial of tofacitinib monotherapy in rheumatoid arthritis. N Engl J Med (2012) 4.16
Identification of 15 new psoriasis susceptibility loci highlights the role of innate immunity. Nat Genet (2012) 4.13
SCN9A mutations in paroxysmal extreme pain disorder: allelic variants underlie distinct channel defects and phenotypes. Neuron (2006) 3.96
Post-transcriptional regulation of low density lipoprotein receptor protein by proprotein convertase subtilisin/kexin type 9a in mouse liver. J Biol Chem (2004) 3.93
Progress and promise of genome-wide association studies for human complex trait genetics. Genetics (2010) 3.81
Genetics of gene expression in primary immune cells identifies cell type-specific master regulators and roles of HLA alleles. Nat Genet (2012) 3.77
Chromatin marks identify critical cell types for fine mapping complex trait variants. Nat Genet (2012) 3.67
A rare penetrant mutation in CFH confers high risk of age-related macular degeneration. Nat Genet (2011) 3.55
Mutations in SCN9A, encoding a sodium channel alpha subunit, in patients with primary erythermalgia. J Med Genet (2004) 3.45
Etiology of type 1 diabetes. Immunity (2010) 3.28
Mendelian randomization: can genetic epidemiology help redress the failures of observational epidemiology? Hum Genet (2007) 3.13
Expression of the familial hypercholesterolemia gene in heterozygotes: mechanism for a dominant disorder in man. Science (1974) 3.05
Steroid 5alpha-reductase deficiency in man: an inherited form of male pseudohermaphroditism. Science (1974) 3.00
Laminopathies and the long strange trip from basic cell biology to therapy. J Clin Invest (2009) 2.94
A network view of disease and compound screening. Nat Rev Drug Discov (2009) 2.90
De novo and inherited deletions of the 5q13 region in spinal muscular atrophies. Science (1994) 2.87
Effect of eculizumab on hemolysis and transfusion requirements in patients with paroxysmal nocturnal hemoglobinuria. N Engl J Med (2004) 2.80
Lovastatin and beyond: the history of the HMG-CoA reductase inhibitors. Nat Rev Drug Discov (2003) 2.69
Torcetrapib and carotid intima-media thickness in mixed dyslipidaemia (RADIANCE 2 study): a randomised, double-blind trial. Lancet (2007) 2.65
Mutations in sodium-channel gene SCN9A cause a spectrum of human genetic pain disorders. J Clin Invest (2007) 2.58
Integrating autoimmune risk loci with gene-expression data identifies specific pathogenic immune cell subsets. Am J Hum Genet (2011) 2.22
Therapeutic targeting of the complement system in age-related macular degeneration: a review. Clin Experiment Ophthalmol (2012) 2.03
Competitiveness in follow-on drug R&D: a race or imitation? Nat Rev Drug Discov (2010) 1.92
Spinal muscular atrophy: mechanisms and therapeutic strategies. Hum Mol Genet (2010) 1.73
ProTx-II, a selective inhibitor of NaV1.7 sodium channels, blocks action potential propagation in nociceptors. Mol Pharmacol (2008) 1.72
NaV1.7 gain-of-function mutations as a continuum: A1632E displays physiological changes associated with erythromelalgia and paroxysmal extreme pain disorder mutations and produces symptoms of both disorders. J Neurosci (2008) 1.70
Deletion of steroid 5 alpha-reductase 2 gene in male pseudohermaphroditism. Nature (1991) 1.69
Common SNPs in HMGCR in micronesians and whites associated with LDL-cholesterol levels affect alternative splicing of exon13. Arterioscler Thromb Vasc Biol (2008) 1.63
Finasteride. N Engl J Med (1994) 1.59
Low-density lipoprotein receptor gene familial hypercholesterolemia variant database: update and pathological assessment. Ann Hum Genet (2012) 1.53
New therapeutic approaches to mendelian disorders. N Engl J Med (2010) 1.47
Phenotypic vs. target-based drug discovery for first-in-class medicines. Clin Pharmacol Ther (2013) 1.45
SCN9A mutations define primary erythermalgia as a neuropathic disorder of voltage gated sodium channels. J Invest Dermatol (2005) 1.41
Lighting the fires within: the cell biology of autoinflammatory diseases. Nat Rev Immunol (2012) 1.34
An overview of international literature from cystic fibrosis registries. Part 3. Disease incidence, genotype/phenotype correlation, microbiology, pregnancy, clinical complications, lung transplantation, and miscellanea. J Cyst Fibros (2011) 1.17
Amyloid precursor protein (APP) A673T mutation in the elderly Finnish population. Neurobiol Aging (2012) 1.07
Mutations in severe combined immune deficiency (SCID) due to JAK3 deficiency. Hum Mutat (2001) 1.04
Assessing the translatability of drug projects: what needs to be scored to predict success? Nat Rev Drug Discov (2009) 1.01
Commentary: Mendelian Randomization, 18 years on. Int J Epidemiol (2004) 1.01
Inhibiting alternative pathway complement activation by targeting the factor D exosite. J Biol Chem (2012) 1.01
A phase 1 trial of riluzole in spinal muscular atrophy. Arch Neurol (2003) 1.00
Cholesteryl ester transfer protein inhibition to reduce cardiovascular risk: Where are we now? Trends Pharmacol Sci (2011) 0.97
Selective silencing of Na(V)1.7 decreases excitability and conduction in vagal sensory neurons. J Physiol (2011) 0.95
Human genetics in rheumatoid arthritis guides a high-throughput drug screen of the CD40 signaling pathway. PLoS Genet (2013) 0.93
A map of human genome variation from population-scale sequencing. Nature (2010) 121.13
The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data. Genome Res (2010) 97.51
A second generation human haplotype map of over 3.1 million SNPs. Nature (2007) 85.39
A framework for variation discovery and genotyping using next-generation DNA sequencing data. Nat Genet (2011) 59.36
PGC-1alpha-responsive genes involved in oxidative phosphorylation are coordinately downregulated in human diabetes. Nat Genet (2003) 53.59
Genome-wide association analysis identifies loci for type 2 diabetes and triglyceride levels. Science (2007) 51.70
The structure of haplotype blocks in the human genome. Science (2002) 50.88
Meta-analysis of genome-wide association data and large-scale replication identifies additional susceptibility loci for type 2 diabetes. Nat Genet (2008) 35.06
Biological, clinical and population relevance of 95 loci for blood lipids. Nature (2010) 28.21
Efficiency and power in genetic association studies. Nat Genet (2005) 25.56
Six new loci associated with body mass index highlight a neuronal influence on body weight regulation. Nat Genet (2008) 22.35
Detecting recent positive selection in the human genome from haplotype structure. Nature (2002) 22.00
Common variants at 30 loci contribute to polygenic dyslipidemia. Nat Genet (2008) 20.66
Association between microdeletion and microduplication at 16p11.2 and autism. N Engl J Med (2008) 19.71
Integrated detection and population-genetic analysis of SNPs and copy number variation. Nat Genet (2008) 19.55
New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk. Nat Genet (2010) 17.89
Genome-wide detection and characterization of positive selection in human populations. Nature (2007) 17.27
Evolution and functional impact of rare coding variation from deep sequencing of human exomes. Science (2012) 17.12
Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis. Nat Genet (2010) 16.96
Assessing the impact of population stratification on genetic association studies. Nat Genet (2004) 16.28
Replicating genotype-phenotype associations. Nature (2007) 16.11
Integrated genotype calling and association analysis of SNPs, common copy number polymorphisms and rare CNVs. Nat Genet (2008) 15.89
Calibrating a coalescent simulation of human genome sequence variation. Genome Res (2005) 15.04
Evaluating and improving power in whole-genome association studies using fixed marker sets. Nat Genet (2006) 14.76
Multiple regions within 8q24 independently affect risk for prostate cancer. Nat Genet (2007) 14.37
Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease. Nat Genet (2011) 13.25
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
TRAF1-C5 as a risk locus for rheumatoid arthritis--a genomewide study. N Engl J Med (2007) 12.24
Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants. Nat Genet (2009) 12.19
Plasma HDL cholesterol and risk of myocardial infarction: a mendelian randomisation study. Lancet (2012) 12.10
Methods for high-density admixture mapping of disease genes. Am J Hum Genet (2004) 12.02
Estimation of the multiple testing burden for genomewide association studies of nearly all common variants. Genet Epidemiol (2008) 11.28
Large-scale association analysis provides insights into the genetic architecture and pathophysiology of type 2 diabetes. Nat Genet (2012) 11.09
A high-density admixture map for disease gene discovery in african americans. Am J Hum Genet (2004) 10.87
Variants in MTNR1B influence fasting glucose levels. Nat Genet (2008) 10.85
Collaborative genome-wide association analysis supports a role for ANK3 and CACNA1C in bipolar disorder. Nat Genet (2008) 10.49
Admixture mapping identifies 8q24 as a prostate cancer risk locus in African-American men. Proc Natl Acad Sci U S A (2006) 10.32
Deletion polymorphism upstream of IRGM associated with altered IRGM expression and Crohn's disease. Nat Genet (2008) 9.52
Demonstrating stratification in a European American population. Nat Genet (2005) 9.49
Testing for an unusual distribution of rare variants. PLoS Genet (2011) 9.28
Analysis of 6,515 exomes reveals the recent origin of most human protein-coding variants. Nature (2012) 8.91
Two independent alleles at 6q23 associated with risk of rheumatoid arthritis. Nat Genet (2007) 8.74
Clinical risk factors, DNA variants, and the development of type 2 diabetes. N Engl J Med (2008) 8.70
Identifying relationships among genomic disease regions: predicting genes at pathogenic SNP associations and rare deletions. PLoS Genet (2009) 8.39
Comparison of fine-scale recombination rates in humans and chimpanzees. Science (2005) 7.86
TCF7L2 polymorphisms and progression to diabetes in the Diabetes Prevention Program. N Engl J Med (2006) 7.75
Large-scale association analysis identifies new risk loci for coronary artery disease. Nat Genet (2012) 7.59
Common variation in three genes, including a noncoding variant in CFH, strongly influences risk of age-related macular degeneration. Nat Genet (2006) 7.49
Common variants at CD40 and other loci confer risk of rheumatoid arthritis. Nat Genet (2008) 7.07
A common haplotype of interferon regulatory factor 5 (IRF5) regulates splicing and expression and is associated with increased risk of systemic lupus erythematosus. Nat Genet (2006) 6.98
Exome sequencing, ANGPTL3 mutations, and familial combined hypolipidemia. N Engl J Med (2010) 6.84
Genetic variation in GIPR influences the glucose and insulin responses to an oral glucose challenge. Nat Genet (2010) 6.66
Replication of putative candidate-gene associations with rheumatoid arthritis in >4,000 samples from North America and Sweden: association of susceptibility with PTPN22, CTLA4, and PADI4. Am J Hum Genet (2005) 6.61
Erralpha and Gabpa/b specify PGC-1alpha-dependent oxidative phosphorylation gene expression that is altered in diabetic muscle. Proc Natl Acad Sci U S A (2004) 6.53
Genetic variants near TNFAIP3 on 6q23 are associated with systemic lupus erythematosus. Nat Genet (2008) 6.42
A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium. Nat Genet (2009) 6.31
The metabochip, a custom genotyping array for genetic studies of metabolic, cardiovascular, and anthropometric traits. PLoS Genet (2012) 6.15
Age-related clonal hematopoiesis associated with adverse outcomes. N Engl J Med (2014) 6.12
Common inherited variation in mitochondrial genes is not enriched for associations with type 2 diabetes or related glycemic traits. PLoS Genet (2010) 5.79
Choosing haplotype-tagging SNPS based on unphased genotype data using a preliminary sample of unrelated subjects with an example from the Multiethnic Cohort Study. Hum Hered (2003) 5.78
Detection of regulatory variation in mouse genes. Nat Genet (2002) 5.76
Deep resequencing of GWAS loci identifies independent rare variants associated with inflammatory bowel disease. Nat Genet (2011) 5.58
Loss-of-function mutations in APOC3, triglycerides, and coronary disease. N Engl J Med (2014) 5.47
New susceptibility locus for coronary artery disease on chromosome 3q22.3. Nat Genet (2009) 5.12
Genetic analysis of human traits in vitro: drug response and gene expression in lymphoblastoid cell lines. PLoS Genet (2008) 5.08
A locus on 19p13 modifies risk of breast cancer in BRCA1 mutation carriers and is associated with hormone receptor-negative breast cancer in the general population. Nat Genet (2010) 4.96
Inactivating mutations in NPC1L1 and protection from coronary heart disease. N Engl J Med (2014) 4.94
Common variant in MTNR1B associated with increased risk of type 2 diabetes and impaired early insulin secretion. Nat Genet (2008) 4.84
Transferability of tag SNPs in genetic association studies in multiple populations. Nat Genet (2006) 4.78
Whole population, genome-wide mapping of hidden relatedness. Genome Res (2008) 4.72
Three functional variants of IFN regulatory factor 5 (IRF5) define risk and protective haplotypes for human lupus. Proc Natl Acad Sci U S A (2007) 4.71
The Lin28/let-7 axis regulates glucose metabolism. Cell (2011) 4.65
Guilt beyond a reasonable doubt. Nat Genet (2007) 4.56
The functional spectrum of low-frequency coding variation. Genome Biol (2011) 4.42
Completing the map of human genetic variation. Nature (2007) 4.38
Common single nucleotide polymorphisms in TCF7L2 are reproducibly associated with type 2 diabetes and reduce the insulin response to glucose in nondiabetic individuals. Diabetes (2006) 4.36
Modeling and E-M estimation of haplotype-specific relative risks from genotype data for a case-control study of unrelated individuals. Hum Hered (2003) 4.34
Common missense variant in the glucokinase regulatory protein gene is associated with increased plasma triglyceride and C-reactive protein but lower fasting glucose concentrations. Diabetes (2008) 4.20
Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility. Nat Genet (2014) 4.13
Common variants at 10 genomic loci influence hemoglobin A₁(C) levels via glycemic and nonglycemic pathways. Diabetes (2010) 4.07
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
The inherited basis of diabetes mellitus: implications for the genetic analysis of complex traits. Annu Rev Genomics Hum Genet (2003) 3.67
Genetic variants at CD28, PRDM1 and CD2/CD58 are associated with rheumatoid arthritis risk. Nat Genet (2009) 3.52
Variations in the G6PC2/ABCB11 genomic region are associated with fasting glucose levels. J Clin Invest (2008) 3.51
Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure. Nat Genet (2011) 3.40
Genome coverage and sequence fidelity of phi29 polymerase-based multiple strand displacement whole genome amplification. Nucleic Acids Res (2004) 3.37
High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency. Nat Genet (2010) 3.31
TXNIP regulates peripheral glucose metabolism in humans. PLoS Med (2007) 3.27
Consistent association of type 2 diabetes risk variants found in europeans in diverse racial and ethnic groups. PLoS Genet (2010) 3.27
Human genome sequence variation and the influence of gene history, mutation and recombination. Nat Genet (2002) 3.24
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
Common variants associated with plasma triglycerides and risk for coronary artery disease. Nat Genet (2013) 2.92
Accurately assessing the risk of schizophrenia conferred by rare copy-number variation affecting genes with brain function. PLoS Genet (2010) 2.68