| # | Title | Journal | Year | Citations |
|---|
| 1 | Genetic variation in PNPLA3 confers susceptibility to nonalcoholic fatty liver disease | Nature Genetics | 2008 | 2,764 |
| 2 | Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index | Nature Genetics | 2010 | 2,634 |
| 3 | Hundreds of variants clustered in genomic loci and biological pathways affect human height | Nature | 2010 | 1,789 |
| 4 | A Common Allele on Chromosome 9 Associated with Coronary Heart Disease | Science | 2007 | 1,591 |
| 5 | Large-scale association analysis identifies new risk loci for coronary artery disease | Nature Genetics | 2013 | 1,439 |
| 6 | Genome-wide association study of blood pressure and hypertension | Nature Genetics | 2009 | 1,224 |
| 7 | Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution | Nature Genetics | 2010 | 836 |
| 8 | Genome partitioning of genetic variation for complex traits using common SNPs | Nature Genetics | 2011 | 834 |
| 9 | Common variants associated with plasma triglycerides and risk for coronary artery disease | Nature Genetics | 2013 | 754 |
| 10 | New loci associated with kidney function and chronic kidney disease | Nature Genetics | 2010 | 710 |
| 11 | Genetic analyses of diverse populations improves discovery for complex traits | Nature | 2019 | 679 |
| 12 | Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture | Nature Genetics | 2013 | 578 |
| 13 | A catalog of genetic loci associated with kidney function from analyses of a million individuals | Nature Genetics | 2019 | 549 |
| 14 | DNA sequence diversity in a 9.7-kb region of the human lipoprotein lipase gene | Nature Genetics | 1998 | 483 |
| 15 | Population-based resequencing of ANGPTL4 uncovers variations that reduce triglycerides and increase HDL | Nature Genetics | 2007 | 473 |
| 16 | Genes and mutations causing retinitis pigmentosa | Clinical Genetics | 2013 | 471 |
| 17 | Genome-wide association study of PR interval | Nature Genetics | 2010 | 400 |
| 18 | Apolipoprotein E Variation at the Sequence Haplotype Level: Implications for the Origin and Maintenance of a Major Human Polymorphism | American Journal of Human Genetics | 2000 | 377 |
| 19 | Relative mutation rates at di-, tri-, and tetranucleotide microsatellite loci | Proceedings of the National Academy of Sciences of the United States of America | 1997 | 373 |
| 20 | Concept, Design and Implementation of a Cardiovascular Gene-Centric 50 K SNP Array for Large-Scale Genomic Association Studies | PLoS ONE | 2008 | 339 |
| 21 | The Influence of Age and Sex on Genetic Associations with Adult Body Size and Shape: A Large-Scale Genome-Wide Interaction Study | PLoS Genetics | 2015 | 331 |
| 22 | Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium | Nature Genetics | 2009 | 324 |
| 23 | Rates of Nucleotide Substitution in Primates and Rodents and the Generation–Time Effect Hypothesis | Molecular Phylogenetics and Evolution | 1996 | 316 |
| 24 | Pattern of polymorphism after strong artificial selection in a domestication event | Proceedings of the National Academy of Sciences of the United States of America | 2004 | 295 |
| 25 | Genome-Wide Association Study of Coronary Heart Disease and Its Risk Factors in 8,090 African Americans: The NHLBI CARe Project | PLoS Genetics | 2011 | 290 |
| 26 | Identification of heart rate–associated loci and their effects on cardiac conduction and rhythm disorders | Nature Genetics | 2013 | 282 |
| 27 | A Range of Clinical Phenotypes Associated with Mutations in CRX, a Photoreceptor Transcription-Factor Gene | American Journal of Human Genetics | 1998 | 256 |
| 28 | Prevalence of Disease-Causing Mutations in Families with Autosomal Dominant Retinitis Pigmentosa: A Screen of Known Genes in 200 Families | | 2006 | 251 |
| 29 | NRXN3 Is a Novel Locus for Waist Circumference: A Genome-Wide Association Study from the CHARGE Consortium | PLoS Genetics | 2009 | 230 |
| 30 | Large-Scale Gene-Centric Meta-analysis across 32 Studies Identifies Multiple Lipid Loci | American Journal of Human Genetics | 2012 | 227 |
| 31 | Signatures of Population Expansion in Microsatellite Repeat Data | Genetics | 1998 | 221 |
| 32 | Next generation sequencing-based molecular diagnosis of retinitis pigmentosa: identification of a novel genotype-phenotype correlation and clinical refinements | Human Genetics | 2014 | 204 |
| 33 | Recombinational and Mutational Hotspots within the Human Lipoprotein Lipase Gene | American Journal of Human Genetics | 2000 | 185 |
| 34 | Genome-wide analyses identify a role for SLC17A4 and AADAT in thyroid hormone regulation | Nature Communications | 2018 | 181 |
| 35 | Genome-wide meta-analysis of 241,258 adults accounting for smoking behaviour identifies novel loci for obesity traits | Nature Communications | 2017 | 169 |
| 36 | Inherited Retinal Degenerations: Current Landscape and Knowledge Gaps | Translational Vision Science and Technology | 2018 | 168 |
| 37 | Genome-Wide Association and Functional Follow-Up Reveals New Loci for Kidney Function | PLoS Genetics | 2012 | 166 |
| 38 | Gene-centric Meta-analysis in 87,736 Individuals of European Ancestry Identifies Multiple Blood-Pressure-Related Loci | American Journal of Human Genetics | 2014 | 158 |
| 39 | Mutations in a novel retina-specific gene cause autosomal dominant retinitis pigmentosa | Nature Genetics | 1999 | 154 |
| 40 | DNA Methylation Analysis Identifies Loci for Blood Pressure Regulation | American Journal of Human Genetics | 2017 | 154 |
| 41 | Epigenome-wide study identifies novel methylation loci associated with body mass index and waist circumference | Obesity | 2015 | 152 |
| 42 | Epigenome-wide association studies identify DNA methylation associated with kidney function | Nature Communications | 2017 | 145 |
| 43 | Spectrum and Frequency of Mutations in IMPDH1 Associated with Autosomal Dominant Retinitis Pigmentosa and Leber Congenital Amaurosis | | 2006 | 141 |
| 44 | Loci influencing blood pressure identified using a cardiovascular gene-centric array | Human Molecular Genetics | 2013 | 141 |
| 45 | Very Low Gene Duplication Rate in the Yeast Genome | Science | 2004 | 140 |
| 46 | Dosage Effects of Diabetes Self-Management Education for Mexican Americans: The Starr County Border Health Initiative | Diabetes Care | 2005 | 139 |
| 47 | Polynesian origins: Insights from the Y chromosome | Proceedings of the National Academy of Sciences of the United States of America | 2000 | 138 |
| 48 | A dominant mutation in RPE65 identified by whole-exome sequencing causes retinitis pigmentosa with choroidal involvement | European Journal of Human Genetics | 2011 | 135 |
| 49 | Ethnic differences in peripheral arterial disease in the NHLBI Genetic Epidemiology Network of Arteriopathy (GENOA) study | Vascular Medicine | 2003 | 132 |
| 50 | Genome-wide Association Studies Identify Genetic Loci Associated With Albuminuria in Diabetes | Diabetes | 2016 | 131 |
