| # | Title | Journal | Year | Citations |
|---|
| 1 | The Structure of Haplotype Blocks in the Human Genome | Science | 2002 | 5,300 |
| 2 | The Simons Genome Diversity Project: 300 genomes from 142 diverse populations | Nature | 2016 | 1,216 |
| 3 | Ancient human genomes suggest three ancestral populations for present-day Europeans | Nature | 2014 | 1,179 |
| 4 | Symbiotic gut microbes modulate human metabolic phenotypes | Proceedings of the National Academy of Sciences of the United States of America | 2008 | 994 |
| 5 | A variant in CDKAL1 influences insulin response and risk of type 2 diabetes | Nature Genetics | 2007 | 966 |
| 6 | Two variants on chromosome 17 confer prostate cancer risk, and the one in TCF2 protects against type 2 diabetes | Nature Genetics | 2007 | 670 |
| 7 | A catalog of genetic loci associated with kidney function from analyses of a million individuals | Nature Genetics | 2019 | 549 |
| 8 | Meta-analysis of genome-wide association studies identifies common variants associated with blood pressure variation in east Asians | Nature Genetics | 2011 | 516 |
| 9 | Unique physiological and pathogenic features of Leptospira interrogans revealed by whole-genome sequencing | Nature | 2003 | 513 |
| 10 | Sequence and Expression of a Candidate for the Human Secretor Blood Group α(1,2)Fucosyltransferase Gene (FUT2) | Journal of Biological Chemistry | 1995 | 499 |
| 11 | Refining the impact of TCF7L2 gene variants on type 2 diabetes and adaptive evolution | Nature Genetics | 2007 | 485 |
| 12 | Skin pigmentation, biogeographical ancestry and admixture mapping | Human Genetics | 2003 | 458 |
| 13 | Control of Confounding of Genetic Associations in Stratified Populations | American Journal of Human Genetics | 2003 | 456 |
| 14 | Genetic evidence supports demic diffusion of Han culture | Nature | 2004 | 398 |
| 15 | The Polygenic and Monogenic Basis of Blood Traits and Diseases | Cell | 2020 | 388 |
| 16 | Exome sequencing of hepatitis B virus–associated hepatocellular carcinoma | Nature Genetics | 2012 | 353 |
| 17 | Trans-ethnic and Ancestry-Specific Blood-Cell Genetics in 746,667 Individuals from 5 Global Populations | Cell | 2020 | 353 |
| 18 | Streptococcal Toxic Shock Syndrome Caused by Streptococcus suis Serotype 2 | PLoS Medicine | 2006 | 352 |
| 19 | A Genome-Wide Association Study of Hypertension and Blood Pressure in African Americans | PLoS Genetics | 2009 | 348 |
| 20 | Decreased expression of myotonin-protein kinase messenger RNA and protein in adult form of myotonic dystrophy | Science | 1993 | 323 |
| 21 | Global diversity, population stratification, and selection of human copy-number variation | Science | 2015 | 293 |
| 22 | Design and Analysis of Admixture Mapping Studies | American Journal of Human Genetics | 2004 | 278 |
| 23 | Assembly of a pan-genome from deep sequencing of 910 humans of African descent | Nature Genetics | 2019 | 276 |
| 24 | Multi-Omics Profiling Reveals Distinct Microenvironment Characterization and Suggests Immune Escape Mechanisms of Triple-Negative Breast Cancer | Clinical Cancer Research | 2019 | 269 |
| 25 | Standardized nomenclature for Alu repeats | Journal of Molecular Evolution | 1996 | 261 |
| 26 | Ancestral proportions and admixture dynamics in geographically defined African Americans living in South Carolina | American Journal of Physical Anthropology | 2001 | 236 |
| 27 | New Perspectives on Host-Parasite Interplay by Comparative Transcriptomic and Proteomic Analyses of Schistosoma japonicum | PLoS Pathogens | 2006 | 230 |
| 28 | Hepatocyte Nuclear Factor 4α Suppresses the Development of Hepatocellular Carcinoma | Cancer Research | 2010 | 205 |
| 29 | A Genome-Wide Association Search for Type 2 Diabetes Genes in African Americans | PLoS ONE | 2012 | 197 |
| 30 | Genetic variation of recent Alu insertions in human populations | Journal of Molecular Evolution | 1996 | 194 |
| 31 | An integrated metric physical map of human chromosome 19 | Nature Genetics | 1995 | 173 |
| 32 | Race, Ancestry, and Genes: Implications for Defining Disease Risk | Annual Review of Genomics and Human Genetics | 2003 | 172 |
| 33 | Molecular Cloning of a Human Genomic Region Containing the H Blood Group α(1,2)Fucosyltransferase Gene and Two H Locus-related DNA Restriction Fragments | Journal of Biological Chemistry | 1995 | 165 |
| 34 | Cloning and Functional Analysis of cDNAs with Open Reading Frames for 300 Previously Undefined Genes Expressed in CD34+ Hematopoietic Stem/Progenitor Cells | Genome Research | 2000 | 159 |
| 35 | Abdominal Adiposity and Clustering of Multiple Metabolic Syndrome in White, Black and Hispanic Americans | Annals of Epidemiology | 2000 | 157 |
| 36 | CYP3A4-V and prostate cancer in African Americans: causal or confounding association because of population stratification? | Human Genetics | 2002 | 152 |
| 37 | Identification of Two Critical Amino Acid Residues of the Severe Acute Respiratory Syndrome Coronavirus Spike Protein for Its Variation in Zoonotic Tropism Transition via a Double Substitution Strategy | Journal of Biological Chemistry | 2005 | 152 |
| 38 | Dysbiosis of Fungal Microbiota in the Intestinal Mucosa of Patients with Colorectal Adenomas | Scientific Reports | 2015 | 146 |
| 39 | Mitochondrial aldehyde dehydrogenase-2 (ALDH2) Glu504Lys polymorphism contributes to the variation in efficacy of sublingual nitroglycerin | Journal of Clinical Investigation | 2006 | 141 |
| 40 | Conceptualizing human variation | Nature Genetics | 2004 | 136 |
| 41 | Admixture in the Hispanics of the San Luis Valley, Colorado, and its implications for complex trait gene mapping | Annals of Human Genetics | 2004 | 136 |
| 42 | A continuum of admixture in the Western Hemisphere revealed by the African Diaspora genome | Nature Communications | 2016 | 136 |
| 43 | Association analyses of East Asian individuals and trans-ancestry analyses with European individuals reveal new loci associated with cholesterol and triglyceride levels | Human Molecular Genetics | 2017 | 135 |
| 44 | Human Genetic Diversity and the Nonexistence of Biological Races | Human Biology | 2003 | 134 |
| 45 | Ancestral proportions and their association with skin pigmentation and bone mineral density in Puerto Rican women from New York city | Human Genetics | 2004 | 127 |
| 46 | Use of classification trees for association studies | Genetic Epidemiology | 2000 | 126 |
| 47 | The 8818G allele of the agouti signaling protein (ASIP) gene is ancestral and is associated with darker skin color in African Americans | Human Genetics | 2005 | 126 |
| 48 | Large-scale SNP analysis reveals clustered and continuous patterns of human genetic variation | Human Genomics | 2005 | 122 |
| 49 | Changing the paradigm from 'race' to human genome variation | Nature Genetics | 2004 | 115 |
| 50 | Nuclear-enriched abundant transcript 1 as a diagnostic and prognostic biomarker in colorectal cancer | Molecular Cancer | 2015 | 115 |
