| # | Title | Journal | Year | Citations |
|---|
| 1 | Gene Ontology: tool for the unification of biology | Nature Genetics | 2000 | 34,499 |
| 2 | A framework for variation discovery and genotyping using next-generation DNA sequencing data | Nature Genetics | 2011 | 10,018 |
| 3 | Principal components analysis corrects for stratification in genome-wide association studies | Nature Genetics | 2006 | 8,889 |
| 4 | PGC-1α-responsive genes involved in oxidative phosphorylation are coordinately downregulated in human diabetes | Nature Genetics | 2003 | 8,185 |
| 5 | The Genotype-Tissue Expression (GTEx) project | Nature Genetics | 2013 | 6,815 |
| 6 | The Cancer Genome Atlas Pan-Cancer analysis project | Nature Genetics | 2013 | 6,265 |
| 7 | Epigenetic regulation of gene expression: how the genome integrates intrinsic and environmental signals | Nature Genetics | 2003 | 5,434 |
| 8 | A candidate genetic risk factor for vascular disease: a common mutation in methylenetetrahydrofolate reductase | Nature Genetics | 1995 | 5,180 |
| 9 | A general framework for estimating the relative pathogenicity of human genetic variants | Nature Genetics | 2014 | 5,167 |
| 10 | Genetic dissection of complex traits: guidelines for interpreting and reporting linkage results | Nature Genetics | 1995 | 5,020 |
| 11 | Generalized lacZ expression with the ROSA26 Cre reporter strain | Nature Genetics | 1999 | 4,530 |
| 12 | Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2 | Nature Genetics | 1999 | 4,459 |
| 13 | Combinatorial microRNA target predictions | Nature Genetics | 2005 | 4,258 |
| 14 | LD Score regression distinguishes confounding from polygenicity in genome-wide association studies | Nature Genetics | 2015 | 3,905 |
| 15 | Common SNPs explain a large proportion of the heritability for human height | Nature Genetics | 2010 | 3,888 |
| 16 | Minimum information about a microarray experiment (MIAME)—toward standards for microarray data | Nature Genetics | 2001 | 3,750 |
| 17 | Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease | Nature Genetics | 2013 | 3,741 |
| 18 | AlaSOPro mutation in the gene encoding α-synuclein in Parkinson's disease | Nature Genetics | 1998 | 3,711 |
| 19 | A novel MHC class I–like gene is mutated in patients with hereditary haemochromatosis | Nature Genetics | 1996 | 3,651 |
| 20 | A unified mixed-model method for association mapping that accounts for multiple levels of relatedness | Nature Genetics | 2006 | 3,622 |
| 21 | Detection of widespread horizontal pleiotropy in causal relationships inferred from Mendelian randomization between complex traits and diseases | Nature Genetics | 2018 | 3,593 |
| 22 | Quantitative expression of Oct-3/4 defines differentiation, dedifferentiation or self-renewal of ES cells | Nature Genetics | 2000 | 3,248 |
| 23 | Deep surveying of alternative splicing complexity in the human transcriptome by high-throughput sequencing | Nature Genetics | 2008 | 3,243 |
| 24 | An atlas of genetic correlations across human diseases and traits | Nature Genetics | 2015 | 3,145 |
| 25 | Merlin—rapid analysis of dense genetic maps using sparse gene flow trees | Nature Genetics | 2002 | 3,100 |
| 26 | The immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) is caused by mutations of FOXP3 | Nature Genetics | 2001 | 2,964 |
| 27 | Distinct and predictive chromatin signatures of transcriptional promoters and enhancers in the human genome | Nature Genetics | 2007 | 2,898 |
| 28 | Next-generation genotype imputation service and methods | Nature Genetics | 2016 | 2,828 |
| 29 | Reanalysis and revision of the Cambridge reference sequence for human mitochondrial DNA | Nature Genetics | 1999 | 2,800 |
| 30 | Genetic variation in PNPLA3 confers susceptibility to nonalcoholic fatty liver disease | Nature Genetics | 2008 | 2,764 |
| 31 | Tumor mutational load predicts survival after immunotherapy across multiple cancer types | Nature Genetics | 2019 | 2,702 |
| 32 | Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer's disease | Nature Genetics | 2009 | 2,697 |
| 33 | Discovery and refinement of loci associated with lipid levels | Nature Genetics | 2013 | 2,641 |
| 34 | Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index | Nature Genetics | 2010 | 2,634 |
| 35 | Network motifs in the transcriptional regulation network of Escherichia coli | Nature Genetics | 2002 | 2,603 |
| 36 | Detection of large-scale variation in the human genome | Nature Genetics | 2004 | 2,602 |
| 37 | Identification of a candidate tumour suppressor gene, MMAC1, at chromosome 10q23.3 that is mutated in multiple advanced cancers | Nature Genetics | 1997 | 2,596 |
| 38 | Common loss-of-function variants of the epidermal barrier protein filaggrin are a major predisposing factor for atopic dermatitis | Nature Genetics | 2006 | 2,584 |
| 39 | Genome-wide efficient mixed-model analysis for association studies | Nature Genetics | 2012 | 2,577 |
| 40 | Mutations in PCSK9 cause autosomal dominant hypercholesterolemia | Nature Genetics | 2003 | 2,532 |
| 41 | The role of microRNA-1 and microRNA-133 in skeletal muscle proliferation and differentiation | Nature Genetics | 2006 | 2,515 |
| 42 | Methylated DNA and MeCP2 recruit histone deacetylase to repress transcription | Nature Genetics | 1998 | 2,484 |
| 43 | Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease | Nature Genetics | 2008 | 2,422 |
| 44 | A reference panel of 64,976 haplotypes for genotype imputation | Nature Genetics | 2016 | 2,421 |
| 45 | The landscape of long noncoding RNAs in the human transcriptome | Nature Genetics | 2015 | 2,410 |
| 46 | A new multipoint method for genome-wide association studies by imputation of genotypes | Nature Genetics | 2007 | 2,407 |
| 47 | Effective targeted gene ‘knockdown’ in zebrafish | Nature Genetics | 2000 | 2,327 |
| 48 | A gene expression map of Arabidopsis thaliana development | Nature Genetics | 2005 | 2,293 |
| 49 | Variance component model to account for sample structure in genome-wide association studies | Nature Genetics | 2010 | 2,287 |
| 50 | Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci | Nature Genetics | 2010 | 2,284 |
