| Gene Ontology: tool for the unification of biology | 2000/05/01 | English | 24,974 |
| A framework for variation discovery and genotyping using next-generation DNA sequencing data | 2011/04/10 | English | 7,553 |
| Principal components analysis corrects for stratification in genome-wide association studies | 2006/07/23 | English | 6,931 |
| PGC-1α-responsive genes involved in oxidative phosphorylation are coordinately downregulated in human diabetes | 2003/06/15 | English | 6,357 |
| The Genotype-Tissue Expression (GTEx) project | 2013/05/29 | English | 5,037 |
| The Cancer Genome Atlas Pan-Cancer analysis project | 2013/09/26 | English | 4,510 |
| A general framework for estimating the relative pathogenicity of human genetic variants | 2014/02/02 | English | 4,039 |
| Epigenetic regulation of gene expression: how the genome integrates intrinsic and environmental signals | 2003/03/01 | English | 3,911 |
| Generalized lacZ expression with the ROSA26 Cre reporter strain | 1999/01/01 | English | 3,872 |
| A candidate genetic risk factor for vascular disease: a common mutation in methylenetetrahydrofolate reductase | 1995/05/01 | English | 3,863 |
| Genetic dissection of complex traits: guidelines for interpreting and reporting linkage results | 1995/11/01 | English | 3,520 |
| Combinatorial microRNA target predictions | 2005/04/03 | English | 3,294 |
| Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2 | 1999/10/01 | English | 3,186 |
| Detection of widespread horizontal pleiotropy in causal relationships inferred from Mendelian randomization between complex traits and diseases | 2018/04/23 | English | 3,023 |
| Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease | 2013/10/27 | English | 2,812 |
| Common SNPs explain a large proportion of the heritability for human height | 2010/06/20 | English | 2,779 |
| AlaSOPro mutation in the gene encoding α-synuclein in Parkinson's disease | 1998/02/01 | English | 2,755 |
| A unified mixed-model method for association mapping that accounts for multiple levels of relatedness | 2005/12/25 | English | 2,728 |
| LD Score regression distinguishes confounding from polygenicity in genome-wide association studies | 2015/02/02 | English | 2,586 |
| Merlin—rapid analysis of dense genetic maps using sparse gene flow trees | 2001/12/03 | English | 2,515 |
| Quantitative expression of Oct-3/4 defines differentiation, dedifferentiation or self-renewal of ES cells | 2000/04/01 | English | 2,492 |
| Deep surveying of alternative splicing complexity in the human transcriptome by high-throughput sequencing | 2008/11/02 | English | 2,483 |
| Minimum information about a microarray experiment (MIAME)—toward standards for microarray data | 2001/12/01 | English | 2,471 |
| A novel MHC class I–like gene is mutated in patients with hereditary haemochromatosis | 1996/08/01 | English | 2,470 |
| Reanalysis and revision of the Cambridge reference sequence for human mitochondrial DNA | 1999/10/01 | English | 2,313 |
| Tumor mutational load predicts survival after immunotherapy across multiple cancer types | 2019/01/14 | English | 2,311 |
| Genetic variation in PNPLA3 confers susceptibility to nonalcoholic fatty liver disease | 2008/09/25 | English | 2,256 |
| The immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) is caused by mutations of FOXP3 | 2001/01/01 | English | 2,247 |
| Distinct and predictive chromatin signatures of transcriptional promoters and enhancers in the human genome | 2007/02/04 | English | 2,212 |
| An atlas of genetic correlations across human diseases and traits | 2015/09/28 | English | 2,086 |