| # | Title | Journal | Year | Citations |
|---|
| 1 | Biological, clinical and population relevance of 95 loci for blood lipids | Nature | 2010 | 3,249 |
| 2 | A comprehensive 1000 Genomes–based genome-wide association meta-analysis of coronary artery disease | Nature Genetics | 2015 | 2,054 |
| 3 | Genetic meta-analysis of diagnosed Alzheimer’s disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing | Nature Genetics | 2019 | 1,962 |
| 4 | Plasma HDL cholesterol and risk of myocardial infarction: a mendelian randomisation study | Lancet, The | 2012 | 1,937 |
| 5 | Genetic variation in the gene encoding calpain-10 is associated with type 2 diabetes mellitus | Nature Genetics | 2000 | 1,403 |
| 6 | Circulating Adhesion Molecules VCAM-1, ICAM-1, and E-selectin in Carotid Atherosclerosis and Incident Coronary Heart Disease Cases | Circulation | 1997 | 1,133 |
| 7 | Sequencing of 53,831 diverse genomes from the NHLBI TOPMed Program | Nature | 2021 | 1,069 |
| 8 | Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility | Nature Genetics | 2014 | 959 |
| 9 | The genetic architecture of type 2 diabetes | Nature | 2016 | 952 |
| 10 | Comparison and integration of deleteriousness prediction methods for nonsynonymous SNVs in whole exome sequencing studies | Human Molecular Genetics | 2015 | 892 |
| 11 | dbNSFP v3.0: A One-Stop Database of Functional Predictions and Annotations for Human Nonsynonymous and Splice-Site SNVs | Human Mutation | 2016 | 845 |
| 12 | Carotid Intima-Media Thickness and Presence or Absence of Plaque Improves Prediction of Coronary Heart Disease Risk | Journal of the American College of Cardiology | 2010 | 794 |
| 13 | Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer's disease | Nature Genetics | 2017 | 783 |
| 14 | A genome-wide approach accounting for body mass index identifies genetic variants influencing fasting glycemic traits and insulin resistance | Nature Genetics | 2012 | 762 |
| 15 | Diagnostic Yield and Clinical Utility of Sequencing Familial Hypercholesterolemia Genes in Patients With Severe Hypercholesterolemia | Journal of the American College of Cardiology | 2016 | 723 |
| 16 | dbNSFP: A lightweight database of human nonsynonymous SNPs and their functional predictions | Human Mutation | 2011 | 706 |
| 17 | New insights into the genetic etiology of Alzheimer’s disease and related dementias | Nature Genetics | 2022 | 700 |
| 18 | Multi-platform discovery of haplotype-resolved structural variation in human genomes | Nature Communications | 2019 | 636 |
| 19 | An Expanded Genome-Wide Association Study of Type 2 Diabetes in Europeans | Diabetes | 2017 | 615 |
| 20 | Exome sequencing identifies rare LDLR and APOA5 alleles conferring risk for myocardial infarction | Nature | 2015 | 581 |
| 21 | A genome–wide search for human non–insulin–dependent (type 2) diabetes genes reveals a major susceptibility locus on chromosome 2 | Nature Genetics | 1996 | 580 |
| 22 | Functional Diversity, Conservation, and Convergence in the Evolution of the α-, β-, and γ-Carbonic Anhydrase Gene Families | Molecular Phylogenetics and Evolution | 1996 | 579 |
| 23 | Multiple loci associated with indices of renal function and chronic kidney disease | Nature Genetics | 2009 | 553 |
| 24 | Meta-analyses of genome-wide association studies identify multiple loci associated with pulmonary function | Nature Genetics | 2010 | 549 |
| 25 | dbNSFP v2.0: A Database of Human Non-synonymous SNVs and Their Functional Predictions and Annotations | Human Mutation | 2013 | 546 |
| 26 | Rare and low-frequency coding variants alter human adult height | Nature | 2017 | 544 |
| 27 | Meta-analysis identifies six new susceptibility loci for atrial fibrillation | Nature Genetics | 2012 | 533 |
| 28 | Study of 300,486 individuals identifies 148 independent genetic loci influencing general cognitive function | Nature Communications | 2018 | 484 |
| 29 | Exome-wide association study of plasma lipids in >300,000 individuals | Nature Genetics | 2017 | 470 |
| 30 | Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies | Nature Genetics | 2010 | 445 |
| 31 | Common variants in KCNN3 are associated with lone atrial fibrillation | Nature Genetics | 2010 | 438 |
| 32 | Loss-of-function mutations in SLC30A8 protect against type 2 diabetes | Nature Genetics | 2014 | 428 |
| 33 | Genomic analyses identify hundreds of variants associated with age at menarche and support a role for puberty timing in cancer risk | Nature Genetics | 2017 | 426 |
| 34 | Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function | Nature Communications | 2016 | 412 |
| 35 | Loci on chromosomes 2 (NIDDM1) and 15 interact to increase susceptibility to diabetes in Mexican Americans | Nature Genetics | 1999 | 374 |
| 36 | Common variants in the GDF5-UQCC region are associated with variation in human height | Nature Genetics | 2008 | 369 |
| 37 | Genome-wide association and large-scale follow up identifies 16 new loci influencing lung function | Nature Genetics | 2011 | 367 |
| 38 | Genetic fine mapping and genomic annotation defines causal mechanisms at type 2 diabetes susceptibility loci | Nature Genetics | 2015 | 365 |
| 39 | Variants in ZFHX3 are associated with atrial fibrillation in individuals of European ancestry | Nature Genetics | 2009 | 363 |
| 40 | The genetics of blood pressure regulation and its target organs from association studies in 342,415 individuals | Nature Genetics | 2016 | 362 |
| 41 | Large-scale genomic analyses link reproductive aging to hypothalamic signaling, breast cancer susceptibility and BRCA1-mediated DNA repair | Nature Genetics | 2015 | 357 |
| 42 | Refining the accuracy of validated target identification through coding variant fine-mapping in type 2 diabetes | Nature Genetics | 2018 | 356 |
| 43 | The power of genetic diversity in genome-wide association studies of lipids | Nature | 2021 | 353 |
| 44 | Genetic contributions to variation in general cognitive function: a meta-analysis of genome-wide association studies in the CHARGE consortium (N=53 949) | Molecular Psychiatry | 2015 | 344 |
| 45 | The trans-ancestral genomic architecture of glycemic traits | Nature Genetics | 2021 | 341 |
| 46 | Reduced Neutrophil Count in People of African Descent Is Due To a Regulatory Variant in the Duffy Antigen Receptor for Chemokines Gene | PLoS Genetics | 2009 | 335 |
| 47 | Trans-ethnic association study of blood pressure determinants in over 750,000 individuals | Nature Genetics | 2019 | 328 |
| 48 | Genome Analyses of >200,000 Individuals Identify 58 Loci for Chronic Inflammation and Highlight Pathways that Link Inflammation and Complex Disorders | American Journal of Human Genetics | 2018 | 326 |
| 49 | The landscape of recombination in African Americans | Nature | 2011 | 319 |
| 50 | Common variants in 22 loci are associated with QRS duration and cardiac ventricular conduction | Nature Genetics | 2010 | 308 |
