| # | Title | Journal | Year | Citations |
|---|
| 1 | Development of a brief test to measure functional health literacy | Patient Education and Counseling | 1999 | 1,281 |
| 2 | Association analysis identifies 65 new breast cancer risk loci | Nature | 2017 | 1,099 |
| 3 | Mapping of a susceptibility locus for Crohn's disease on chromosome 16 | Nature | 1996 | 906 |
| 4 | Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer's disease | Nature Genetics | 2017 | 783 |
| 5 | Natural selection on EPAS1 ( HIF2α ) associated with low hemoglobin concentration in Tibetan highlanders | Proceedings of the National Academy of Sciences of the United States of America | 2010 | 708 |
| 6 | MYH9 is associated with nondiabetic end-stage renal disease in African Americans | Nature Genetics | 2008 | 587 |
| 7 | A meta-analysis of the role of smoking in inflammatory bowel disease | Digestive Diseases and Sciences | 1989 | 567 |
| 8 | A Generalized Combinatorial Approach for Detecting Gene-by-Gene and Gene-by-Environment Interactions with Application to Nicotine Dependence | American Journal of Human Genetics | 2007 | 533 |
| 9 | Adherence to Surgical Care Improvement Project Measures and the Association With Postoperative Infections | JAMA - Journal of the American Medical Association | 2010 | 487 |
| 10 | Metabolic Syndrome in Childhood Predicts Adult Cardiovascular Disease 25 Years Later: The Princeton Lipid Research Clinics Follow-up Study | Pediatrics | 2007 | 477 |
| 11 | Large-scale association analysis identifies new lung cancer susceptibility loci and heterogeneity in genetic susceptibility across histological subtypes | Nature Genetics | 2017 | 472 |
| 12 | Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia | Nature Genetics | 2013 | 398 |
| 13 | Genetic Analysis of Case/Control Data Using Estimated Haplotype Frequencies: Application to APOE Locus Variation and Alzheimer's Disease | Genome Research | 2001 | 388 |
| 14 | Accuracy of Haplotype Frequency Estimation for Biallelic Loci, via the Expectation-Maximization Algorithm for Unphased Diploid Genotype Data | American Journal of Human Genetics | 2000 | 381 |
| 15 | Obesity and Periodontal Disease in Young, Middle-Aged, and Older Adults | Journal of Periodontology | 2003 | 369 |
| 16 | The genetics of blood pressure regulation and its target organs from association studies in 342,415 individuals | Nature Genetics | 2016 | 362 |
| 17 | Behavioral Outcomes and Evidence of Psychopathology Among Very Low Birth Weight Infants at Age 20 Years | Pediatrics | 2004 | 333 |
| 18 | A common haplotype lowers PU.1 expression in myeloid cells and delays onset of Alzheimer's disease | Nature Neuroscience | 2017 | 330 |
| 19 | Haseman and Elston revisited | Genetic Epidemiology | 2000 | 324 |
| 20 | The landscape of recombination in African Americans | Nature | 2011 | 319 |
| 21 | Single nucleotide polymorphisms and the future of genetic epidemiology | Clinical Genetics | 2000 | 316 |
| 22 | Genetic assessment of age-associated Alzheimer disease risk: Development and validation of a polygenic hazard score | PLoS Medicine | 2017 | 311 |
| 23 | The inhibition of TDP-43 mitochondrial localization blocks its neuronal toxicity | Nature Medicine | 2016 | 299 |
| 24 | Microtubule Reduction in Alzheimer's Disease and Aging Is Independent of τ Filament Formation | American Journal of Pathology | 2003 | 294 |
| 25 | The Toll–Interleukin-1 Receptor Member SIGIRR Regulates Colonic Epithelial Homeostasis, Inflammation, and Tumorigenesis | Immunity | 2007 | 293 |
| 26 | A Higher Incidence of Intermittent Hypoxemic Episodes Is Associated with Severe Retinopathy of Prematurity | Journal of Pediatrics | 2010 | 288 |
| 27 | Periodontal Therapy Reduces the Severity of Active Rheumatoid Arthritis in Patients Treated With or Without Tumor Necrosis Factor Inhibitors | Journal of Periodontology | 2009 | 285 |
| 28 | Aberrant crypts correlate with tumor incidence in F344 rats treated with azoxymethane and phytate | Carcinogenesis | 1992 | 280 |
| 29 | RNASEL Arg462Gln variant is implicated in up to 13% of prostate cancer cases | Nature Genetics | 2002 | 280 |
| 30 | Genome-wide association analyses of sleep disturbance traits identify new loci and highlight shared genetics with neuropsychiatric and metabolic traits | Nature Genetics | 2017 | 280 |
| 31 | The OncoArray Consortium: A Network for Understanding the Genetic Architecture of Common Cancers | Cancer Epidemiology Biomarkers and Prevention | 2017 | 278 |
| 32 | Prospective randomized double-blind trial of bilateral thalamic deep brain stimulation in adults with Tourette syndrome | Journal of Neurosurgery | 2007 | 276 |
| 33 | The phenotypic legacy of admixture between modern humans and Neandertals | Science | 2016 | 269 |
| 34 | A novel Alzheimer disease locus located near the gene encoding tau protein | Molecular Psychiatry | 2016 | 260 |
| 35 | A Quantitative-Trait Analysis of Human Plasma–Dopamine β-Hydroxylase Activity: Evidence for a Major Functional Polymorphism at the DBH Locus | American Journal of Human Genetics | 2001 | 253 |
| 36 | Lifetime prevalence of uveal melanoma in white patients with oculo(dermal) melanocytosis | Ophthalmology | 1998 | 247 |
| 37 | Linkage and Association Analysis of Angiotensin I–Converting Enzyme (ACE)–Gene Polymorphisms with ACE Concentration and Blood Pressure | American Journal of Human Genetics | 2001 | 241 |
| 38 | Variation of C-Reactive Protein Levels in Adolescents | Circulation | 2005 | 239 |
| 39 | A meta-analysis identifies new loci associated with body mass index in individuals of African ancestry | Nature Genetics | 2013 | 232 |
| 40 | Lack of Health Insurance and Decline in Overall Health in Late Middle Age | New England Journal of Medicine | 2001 | 224 |
| 41 | Unravelling the human genome–phenome relationship using phenome-wide association studies | Nature Reviews Genetics | 2016 | 222 |
| 42 | Validity of cardiovascular disease risk factors assessed by telephone survey: The behavioral risk factor survey | Journal of Clinical Epidemiology | 1993 | 213 |
| 43 | Genome-wide analysis of multi-ancestry cohorts identifies new loci influencing intraocular pressure and susceptibility to glaucoma | Nature Genetics | 2014 | 212 |
| 44 | Prevalence and predictors of interval colorectal cancers in Medicare beneficiaries | Cancer | 2012 | 207 |
| 45 | Plasma Aldosterone Is Independently Associated With the Metabolic Syndrome | Hypertension | 2006 | 204 |
| 46 | The Epidemiology of Retinal Reticular Drusen | American Journal of Ophthalmology | 2008 | 201 |
| 47 | Asymptotic Bias and Efficiency In Case-Control Studies of Candidate Genes and Gene-Environment Interactions: Basic Family Designs | American Journal of Epidemiology | 1999 | 199 |
| 48 | Adjuvant-dependent innate and adaptive immune signatures of risk of SIVmac251 acquisition | Nature Medicine | 2016 | 197 |
| 49 | Genome-wide association analyses identify three new susceptibility loci for primary angle closure glaucoma | Nature Genetics | 2012 | 196 |
| 50 | Linkage Disequilibrium and Allele-Frequency Distributions for 114 Single-Nucleotide Polymorphisms in Five Populations | American Journal of Human Genetics | 2000 | 193 |
