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Top Articles

#TitleJournalYearCitations
1Gene Ontology: tool for the unification of biologyNature Genetics200034,499
2A framework for variation discovery and genotyping using next-generation DNA sequencing dataNature Genetics201110,018
3Principal components analysis corrects for stratification in genome-wide association studiesNature Genetics20068,889
4PGC-1α-responsive genes involved in oxidative phosphorylation are coordinately downregulated in human diabetesNature Genetics20038,185
5The Genotype-Tissue Expression (GTEx) projectNature Genetics20136,815
6The Cancer Genome Atlas Pan-Cancer analysis projectNature Genetics20136,265
7Epigenetic regulation of gene expression: how the genome integrates intrinsic and environmental signalsNature Genetics20035,434
8A candidate genetic risk factor for vascular disease: a common mutation in methylenetetrahydrofolate reductaseNature Genetics19955,180
9A general framework for estimating the relative pathogenicity of human genetic variantsNature Genetics20145,167
10Genetic dissection of complex traits: guidelines for interpreting and reporting linkage resultsNature Genetics19955,020
11Generalized lacZ expression with the ROSA26 Cre reporter strainNature Genetics19994,530
12Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2Nature Genetics19994,459
13Combinatorial microRNA target predictionsNature Genetics20054,258
14LD Score regression distinguishes confounding from polygenicity in genome-wide association studiesNature Genetics20153,905
15Common SNPs explain a large proportion of the heritability for human heightNature Genetics20103,888
16Minimum information about a microarray experiment (MIAME)—toward standards for microarray dataNature Genetics20013,750
17Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's diseaseNature Genetics20133,741
18AlaSOPro mutation in the gene encoding α-synuclein in Parkinson's diseaseNature Genetics19983,711
19A novel MHC class I–like gene is mutated in patients with hereditary haemochromatosisNature Genetics19963,651
20A unified mixed-model method for association mapping that accounts for multiple levels of relatednessNature Genetics20063,622
21Detection of widespread horizontal pleiotropy in causal relationships inferred from Mendelian randomization between complex traits and diseasesNature Genetics20183,593
22Quantitative expression of Oct-3/4 defines differentiation, dedifferentiation or self-renewal of ES cellsNature Genetics20003,248
23Deep surveying of alternative splicing complexity in the human transcriptome by high-throughput sequencingNature Genetics20083,243
24An atlas of genetic correlations across human diseases and traitsNature Genetics20153,145
25Merlin—rapid analysis of dense genetic maps using sparse gene flow treesNature Genetics20023,100
26The immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) is caused by mutations of FOXP3Nature Genetics20012,964
27Distinct and predictive chromatin signatures of transcriptional promoters and enhancers in the human genomeNature Genetics20072,898
28Next-generation genotype imputation service and methodsNature Genetics20162,828
29Reanalysis and revision of the Cambridge reference sequence for human mitochondrial DNANature Genetics19992,800
30Genetic variation in PNPLA3 confers susceptibility to nonalcoholic fatty liver diseaseNature Genetics20082,764
31Tumor mutational load predicts survival after immunotherapy across multiple cancer typesNature Genetics20192,702
32Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer's diseaseNature Genetics20092,697
33Discovery and refinement of loci associated with lipid levelsNature Genetics20132,641
34Association analyses of 249,796 individuals reveal 18 new loci associated with body mass indexNature Genetics20102,634
35Network motifs in the transcriptional regulation network of Escherichia coliNature Genetics20022,603
36Detection of large-scale variation in the human genomeNature Genetics20042,602
37Identification of a candidate tumour suppressor gene, MMAC1, at chromosome 10q23.3 that is mutated in multiple advanced cancersNature Genetics19972,596
38Common loss-of-function variants of the epidermal barrier protein filaggrin are a major predisposing factor for atopic dermatitisNature Genetics20062,584
39Genome-wide efficient mixed-model analysis for association studiesNature Genetics20122,577
40Mutations in PCSK9 cause autosomal dominant hypercholesterolemiaNature Genetics20032,532
41The role of microRNA-1 and microRNA-133 in skeletal muscle proliferation and differentiationNature Genetics20062,515
42Methylated DNA and MeCP2 recruit histone deacetylase to repress transcriptionNature Genetics19982,484
43Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's diseaseNature Genetics20082,422
44A reference panel of 64,976 haplotypes for genotype imputationNature Genetics20162,421
45The landscape of long noncoding RNAs in the human transcriptomeNature Genetics20152,410
46A new multipoint method for genome-wide association studies by imputation of genotypesNature Genetics20072,407
47Effective targeted gene ‘knockdown’ in zebrafishNature Genetics20002,327
48A gene expression map of Arabidopsis thaliana developmentNature Genetics20052,293
49Variance component model to account for sample structure in genome-wide association studiesNature Genetics20102,287
50Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility lociNature Genetics20102,284