| # | Title | Journal | Year | Citations |
|---|
|
| 1 | ESTIMATION OF AVERAGE HETEROZYGOSITY AND GENETIC DISTANCE FROM A SMALL NUMBER OF INDIVIDUALS | Genetics | 1978 | 9,557 |
| 2 | Analysis of Gene Diversity in Subdivided Populations | Proceedings of the National Academy of Sciences of the United States of America | 1973 | 7,643 |
| 3 | Simple methods for estimating the numbers of synonymous and nonsynonymous nucleotide substitutions. | Molecular Biology and Evolution | 1986 | 4,424 |
| 4 | Biological, clinical and population relevance of 95 loci for blood lipids | Nature | 2010 | 3,300 |
| 5 | EVOLUTIONARY RELATIONSHIP OF DNA SEQUENCES IN FINITE POPULATIONS | Genetics | 1983 | 2,821 |
| 6 | Accuracy of estimated phylogenetic trees from molecular data | Journal of Molecular Evolution | 1983 | 2,226 |
| 7 | THE BOTTLENECK EFFECT AND GENETIC VARIABILITY IN POPULATIONS | Evolution; International Journal of Organic Evolution | 1975 | 2,188 |
| 8 | A comprehensive 1000 Genomes–based genome-wide association meta-analysis of coronary artery disease | Nature Genetics | 2015 | 2,178 |
| 9 | Genetic meta-analysis of diagnosed Alzheimer’s disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing | Nature Genetics | 2019 | 2,145 |
| 10 | An integrated map of structural variation in 2,504 human genomes | Nature | 2015 | 2,084 |
| 11 | Plasma HDL cholesterol and risk of myocardial infarction: a mendelian randomisation study | Lancet, The | 2012 | 1,992 |
| 12 | Pattern of nucleotide substitution at major histocompatibility complex class I loci reveals overdominant selection | Nature | 1988 | 1,923 |
| 13 | Patterns and rates of exonic de novo mutations in autism spectrum disorders | Nature | 2012 | 1,616 |
| 14 | Genetic variation in the gene encoding calpain-10 is associated with type 2 diabetes mellitus | Nature Genetics | 2000 | 1,409 |
| 15 | Multiancestry genome-wide association study of 520,000 subjects identifies 32 loci associated with stroke and stroke subtypes | Nature Genetics | 2018 | 1,254 |
| 16 | Sequencing of 53,831 diverse genomes from the NHLBI TOPMed Program | Nature | 2021 | 1,236 |
| 17 | DNA POLYMORPHISM DETECTABLE BY RESTRICTION ENDONUCLEASES | Genetics | 1981 | 1,181 |
| 18 | Circulating Adhesion Molecules VCAM-1, ICAM-1, and E-selectin in Carotid Atherosclerosis and Incident Coronary Heart Disease Cases | Circulation | 1997 | 1,142 |
| 19 | F‐statistics and analysis of gene diversity in subdivided populations | Annals of Human Genetics | 1977 | 1,109 |
| 20 | Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits | Nature Genetics | 2018 | 1,019 |
| 21 | Evolution of pathogenicity and sexual reproduction in eight Candida genomes | Nature | 2009 | 989 |
| 22 | Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility | Nature Genetics | 2014 | 982 |
| 23 | New insights into the genetic etiology of Alzheimer’s disease and related dementias | Nature Genetics | 2022 | 981 |
| 24 | The genetic architecture of type 2 diabetes | Nature | 2016 | 973 |
| 25 | A framework for the interpretation of de novo mutation in human disease | Nature Genetics | 2014 | 971 |
| 26 | Comparison and integration of deleteriousness prediction methods for nonsynonymous SNVs in whole exome sequencing studies | Human Molecular Genetics | 2015 | 929 |
| 27 | Large-scale association analyses identify host factors influencing human gut microbiome composition | Nature Genetics | 2021 | 922 |
| 28 | Cancer Incidence, Mortality, Years of Life Lost, Years Lived With Disability, and Disability-Adjusted Life Years for 29 Cancer Groups From 2010 to 2019 | JAMA Oncology | 2022 | 919 |
| 29 | Estimation of fixation indices and gene diversities | Annals of Human Genetics | 1983 | 887 |
| 30 | dbNSFP v3.0: A One-Stop Database of Functional Predictions and Annotations for Human Nonsynonymous and Splice-Site SNVs | Human Mutation | 2016 | 869 |
| 31 | Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer's disease | Nature Genetics | 2017 | 818 |
| 32 | A genome-wide approach accounting for body mass index identifies genetic variants influencing fasting glycemic traits and insulin resistance | Nature Genetics | 2012 | 778 |
| 33 | Diagnostic Yield and Clinical Utility of Sequencing Familial Hypercholesterolemia Genes in Patients With Severe Hypercholesterolemia | Journal of the American College of Cardiology | 2016 | 752 |
| 34 | dbNSFP: A lightweight database of human nonsynonymous SNPs and their functional predictions | Human Mutation | 2011 | 728 |
| 35 | Multi-platform discovery of haplotype-resolved structural variation in human genomes | Nature Communications | 2019 | 681 |
| 36 | An Expanded Genome-Wide Association Study of Type 2 Diabetes in Europeans | Diabetes | 2017 | 647 |
| 37 | Exome sequencing identifies rare LDLR and APOA5 alleles conferring risk for myocardial infarction | Nature | 2015 | 591 |
| 38 | The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities | American Journal of Human Genetics | 2015 | 585 |
| 39 | Functional Diversity, Conservation, and Convergence in the Evolution of the α-, β-, and γ-Carbonic Anhydrase Gene Families | Molecular Phylogenetics and Evolution | 1996 | 583 |
| 40 | A genome–wide search for human non–insulin–dependent (type 2) diabetes genes reveals a major susceptibility locus on chromosome 2 | Nature Genetics | 1996 | 583 |
| 41 | HMG-coenzyme A reductase inhibition, type 2 diabetes, and bodyweight: evidence from genetic analysis and randomised trials | Lancet, The | 2015 | 579 |
| 42 | BIOGENESIS, ARCHITECTURE, AND FUNCTION OF BACTERIAL TYPE IV SECRETION SYSTEMS | Annual Review of Microbiology | 2005 | 578 |
| 43 | Multiple loci associated with indices of renal function and chronic kidney disease | Nature Genetics | 2009 | 568 |
| 44 | Multicollinearity in Regression Analyses Conducted in Epidemiologic Studies | Epidemiology (Sunnyvale, Calif ) | 2016 | 567 |
| 45 | Rare and low-frequency coding variants alter human adult height | Nature | 2017 | 560 |
| 46 | Meta-analyses of genome-wide association studies identify multiple loci associated with pulmonary function | Nature Genetics | 2010 | 558 |
| 47 | dbNSFP v2.0: A Database of Human Non-synonymous SNVs and Their Functional Predictions and Annotations | Human Mutation | 2013 | 552 |
| 48 | Meta-analysis identifies six new susceptibility loci for atrial fibrillation | Nature Genetics | 2012 | 543 |
| 49 | Study of 300,486 individuals identifies 148 independent genetic loci influencing general cognitive function | Nature Communications | 2018 | 524 |
| 50 | Pseudogenes as a paradigm of neutral evolution | Nature | 1981 | 496 |
