| # | Title | Journal | Year | Citations |
|---|
| 1 | Mutations of the BRAF gene in human cancer | Nature | 2002 | 9,374 |
| 2 | Finding the missing heritability of complex diseases | Nature | 2009 | 7,490 |
| 3 | Minimal information for studies of extracellular vesicles 2018 (MISEV2018): a position statement of the International Society for Extracellular Vesicles and update of the MISEV2014 guidelines | Journal of Extracellular Vesicles | 2018 | 6,961 |
| 4 | GCTA: A Tool for Genome-wide Complex Trait Analysis | American Journal of Human Genetics | 2011 | 6,212 |
| 5 | Host–microbe interactions have shaped the genetic architecture of inflammatory bowel disease | Nature | 2012 | 4,038 |
| 6 | Common SNPs explain a large proportion of the heritability for human height | Nature Genetics | 2010 | 3,888 |
| 7 | Genetic studies of body mass index yield new insights for obesity biology | Nature | 2015 | 3,823 |
| 8 | Association of missense and 5′-splice-site mutations in tau with the inherited dementia FTDP-17 | Nature | 1998 | 3,333 |
| 9 | Biological, clinical and population relevance of 95 loci for blood lipids | Nature | 2010 | 3,249 |
| 10 | Patterns of somatic mutation in human cancer genomes | Nature | 2007 | 2,802 |
| 11 | A single ataxia telangiectasia gene with a product similar to PI-3 kinase | Science | 1995 | 2,634 |
| 12 | Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index | Nature Genetics | 2010 | 2,634 |
| 13 | Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci | Nature Genetics | 2010 | 2,284 |
| 14 | Genome-wide association analyses identify 44 risk variants and refine the genetic architecture of major depression | Nature Genetics | 2018 | 2,224 |
| 15 | Genome-wide association study identifies novel breast cancer susceptibility loci | Nature | 2007 | 2,165 |
| 16 | Genome-wide association study identifies variants at CLU and CR1 associated with Alzheimer's disease | Nature Genetics | 2009 | 2,155 |
| 17 | The global burden of low back pain: estimates from the Global Burden of Disease 2010 study | Annals of the Rheumatic Diseases | 2014 | 2,091 |
| 18 | Five Years of GWAS Discovery | American Journal of Human Genetics | 2012 | 2,088 |
| 19 | Soil-transmitted helminth infections: ascariasis, trichuriasis, and hookworm | Lancet, The | 2006 | 1,981 |
| 20 | Molecular classification of cutaneous malignant melanoma by gene expression profiling | Nature | 2000 | 1,877 |
| 21 | Defining the role of common variation in the genomic and biological architecture of adult human height | Nature Genetics | 2014 | 1,818 |
| 22 | Hundreds of variants clustered in genomic loci and biological pathways affect human height | Nature | 2010 | 1,789 |
| 23 | Integration of summary data from GWAS and eQTL studies predicts complex trait gene targets | Nature Genetics | 2016 | 1,757 |
| 24 | CpG island methylator phenotype underlies sporadic microsatellite instability and is tightly associated with BRAF mutation in colorectal cancer | Nature Genetics | 2006 | 1,715 |
| 25 | Discovery of the first genome-wide significant risk loci for attention deficit/hyperactivity disorder | Nature Genetics | 2019 | 1,594 |
| 26 | High frequency of BRAF mutations in nevi | Nature Genetics | 2003 | 1,547 |
| 27 | Systematic identification of trans eQTLs as putative drivers of known disease associations | Nature Genetics | 2013 | 1,544 |
| 28 | A Simple Correction for Multiple Testing for Single-Nucleotide Polymorphisms in Linkage Disequilibrium with Each Other | American Journal of Human Genetics | 2004 | 1,523 |
| 29 | Heritability in the genomics era — concepts and misconceptions | Nature Reviews Genetics | 2008 | 1,496 |
| 30 | Guidelines for the use and interpretation of assays for monitoring autophagy (4th edition)1 | Autophagy | 2021 | 1,430 |
| 31 | Vitamin D supplementation to prevent acute respiratory tract infections: systematic review and meta-analysis of individual participant data | BMJ: British Medical Journal | 2017 | 1,408 |
| 32 | A Wolbachia Symbiont in Aedes aegypti Limits Infection with Dengue, Chikungunya, and Plasmodium | Cell | 2009 | 1,384 |
| 33 | A doxorubicin delivery platform using engineered natural membrane vesicle exosomes for targeted tumor therapy | Biomaterials | 2014 | 1,352 |
| 34 | Conditional and joint multiple-SNP analysis of GWAS summary statistics identifies additional variants influencing complex traits | Nature Genetics | 2012 | 1,338 |
| 35 | New genetic loci link adipose and insulin biology to body fat distribution | Nature | 2015 | 1,328 |
| 36 | The connectomics of brain disorders | Nature Reviews Neuroscience | 2015 | 1,315 |
| 37 | Association studies of up to 1.2 million individuals yield new insights into the genetic etiology of tobacco and alcohol use | Nature Genetics | 2019 | 1,307 |
| 38 | Pancreatic cancer | Nature Reviews Disease Primers | 2016 | 1,301 |
| 39 | Optimized exosome isolation protocol for cell culture supernatant and human plasma | Journal of Extracellular Vesicles | 2015 | 1,204 |
| 40 | Genome-wide association study identifies 74 loci associated with educational attainment | Nature | 2016 | 1,204 |
| 41 | Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47 | Nature Genetics | 2011 | 1,201 |
| 42 | Genome-wide association study identifies 30 loci associated with bipolar disorder | Nature Genetics | 2019 | 1,191 |
| 43 | Classifying Cancers Based on T-cell Infiltration and PD-L1 | Cancer Research | 2015 | 1,167 |
| 44 | New insights into cancer immunoediting and its three component phases—elimination, equilibrium and escape | Current Opinion in Immunology | 2014 | 1,163 |
| 45 | Association analysis identifies 65 new breast cancer risk loci | Nature | 2017 | 1,099 |
| 46 | Cancer immunoediting and resistance to T cell-based immunotherapy | Nature Reviews Clinical Oncology | 2019 | 1,093 |
| 47 | From Selenium to Selenoproteins: Synthesis, Identity, and Their Role in Human Health | Antioxidants and Redox Signaling | 2007 | 1,089 |
| 48 | Analysis of shared heritability in common disorders of the brain | Science | 2018 | 1,085 |
| 49 | Whole-genome landscapes of major melanoma subtypes | Nature | 2017 | 1,068 |
| 50 | A DNA nanorobot functions as a cancer therapeutic in response to a molecular trigger in vivo | Nature Biotechnology | 2018 | 1,066 |
