| # | Title | Journal | Year | Citations |
|---|
| 1 | The FAIR Guiding Principles for scientific data management and stewardship | Scientific Data | 2016 | 8,670 |
| 2 | Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition) | Autophagy | 2016 | 4,701 |
| 3 | Hypervariable ‘minisatellite’ regions in human DNA | Nature | 1985 | 3,495 |
| 4 | Individual-specific ‘fingerprints’ of human DNA | Nature | 1985 | 2,040 |
| 5 | The genome sequence of the food-borne pathogen Campylobacter jejuni reveals hypervariable sequences | Nature | 2000 | 1,869 |
| 6 | HGVS Recommendations for the Description of Sequence Variants: 2016 Update | Human Mutation | 2016 | 1,194 |
| 7 | Forensic application of DNA ‘fingerprints’ | Nature | 1985 | 1,010 |
| 8 | The human Y chromosome: an evolutionary marker comes of age | Nature Reviews Genetics | 2003 | 805 |
| 9 | Intensely punctate meiotic recombination in the class II region of the major histocompatibility complex | Nature Genetics | 2001 | 796 |
| 10 | Spontaneous mutation rates to new length alleles at tandem-repetitive hypervariable loci in human DNA | Nature | 1988 | 776 |
| 11 | Peroxiredoxins are conserved markers of circadian rhythms | Nature | 2012 | 752 |
| 12 | BioMart – biological queries made easy | BMC Genomics | 2009 | 738 |
| 13 | Circadian Cycling of the Mouse Liver Transcriptome, as Revealed by cDNA Microarray, Is Driven by the Suprachiasmatic Nucleus | Current Biology | 2002 | 711 |
| 14 | The BioMart community portal: an innovative alternative to large, centralized data repositories | Nucleic Acids Research | 2015 | 682 |
| 15 | Properties of the Penicillin-Binding Proteins of Escherichia coli K12 | FEBS Journal | 1977 | 673 |
| 16 | Evaluation of Y-chromosomal STRs: a multicenter study | International Journal of Legal Medicine | 1997 | 648 |
| 17 | Consortium for osteogenesis imperfecta mutations in the helical domain of type I collagen: regions rich in lethal mutations align with collagen binding sites for integrins and proteoglycans | Human Mutation | 2007 | 620 |
| 18 | Psoriasis is associated with increased β-defensin genomic copy number | Nature Genetics | 2008 | 587 |
| 19 | Chromosome 5 allele loss in human colorectal carcinomas | Nature | 1987 | 586 |
| 20 | Characterization of a panel of highly variable minisatellites cloned from human DNA | Annals of Human Genetics | 1987 | 544 |
| 21 | LINE-1 Retrotransposition Activity in Human Genomes | Cell | 2010 | 531 |
| 22 | Complex gene conversion events in germline mutation at human minisatellites | Nature Genetics | 1994 | 524 |
| 23 | Positive identification of an immigration test-case using human DNA fingerprints | Nature | 1985 | 519 |
| 24 | Y-Chromosomal Diversity in Europe Is Clinal and Influenced Primarily by Geography, Rather than by Language | American Journal of Human Genetics | 2000 | 519 |
| 25 | Circadian Orchestration of the Hepatic Proteome | Current Biology | 2006 | 506 |
| 26 | Amplification of human minisatellites by the polymerase chain reaction: towards DNA fingerprinting of single cells | Nucleic Acids Research | 1988 | 488 |
| 27 | Identification of a Major Susceptibility Locus on Chromosome 6p and Evidence for Further Disease Loci Revealed by a Two Stage Genome-Wide Search in Psoriasis | Human Molecular Genetics | 1997 | 476 |
| 28 | The PiGMaP consortium linkage map of the pig (Sus scrofa) | Mammalian Genome | 1995 | 475 |
| 29 | Repeat unit sequence variation in minisatellites: A novel source of DNA polymorphism for studying variation and mutation by single molecule analysis | Cell | 1990 | 474 |
| 30 | LINE-1 Elements in Structural Variation and Disease | Annual Review of Genomics and Human Genetics | 2011 | 471 |
| 31 | Bayesian refinement of association signals for 14 loci in 3 common diseases | Nature Genetics | 2012 | 469 |
| 32 | Encoded evidence: DNA in forensic analysis | Nature Reviews Genetics | 2004 | 457 |
| 33 | SUN1 Interacts with Nuclear Lamin A and Cytoplasmic Nesprins To Provide a Physical Connection between the Nuclear Lamina and the Cytoskeleton | Molecular and Cellular Biology | 2006 | 440 |
| 34 | Isolation of human simple repeat loci by hybridization selection | Human Molecular Genetics | 1994 | 438 |
| 35 | Kynurenine 3-Monooxygenase Inhibition in Blood Ameliorates Neurodegeneration | Cell | 2011 | 435 |
| 36 | Human minisatellite mutation rate after the Chernobyl accident | Nature | 1996 | 419 |
| 37 | Minisatellite repeat coding as a digital approach to DNA typing | Nature | 1991 | 413 |
| 38 | Versatile low-copy-number plasmid vectors for cloning in Escherichia coli | Gene | 1982 | 403 |
| 39 | Iron uptake mechanisms of pathogenic bacteria | FEMS Microbiology Reviews | 1993 | 393 |
| 40 | Genomic analysis identifies targets of convergent positive selection in drug-resistant Mycobacterium tuberculosis | Nature Genetics | 2013 | 393 |
| 41 | The Matchmaker Exchange: A Platform for Rare Disease Gene Discovery | Human Mutation | 2015 | 390 |
| 42 | Mutations of the TGF-β type II receptorBMPR2 in pulmonary arterial hypertension | Human Mutation | 2006 | 368 |
| 43 | Genetic linkage of childhood atopic dermatitis to psoriasis susceptibility loci | Nature Genetics | 2001 | 353 |
| 44 | P-element transformation with period locus DNA restores rhythmicity to mutant, arrhythmic drosophila melanogaster | Cell | 1984 | 347 |
| 45 | The Y chromosome in forensic analysis and paternity testing | International Journal of Legal Medicine | 1997 | 347 |
| 46 | DNA fingerprints of dogs and cats | Animal Genetics | 1987 | 341 |
| 47 | Pathogenesis of Enteric Infection by Campylobacter | Microbiology (United Kingdom) | 1997 | 329 |
| 48 | Natural Variation in a Drosophila Clock Gene and Temperature Compensation | Science | 1997 | 322 |
| 49 | Clustering of hypervariable minisatellites in the proterminal regions of human autosomes | Genomics | 1988 | 316 |
| 50 | Fathers and sons: the Y chromosome and human evolution | Trends in Genetics | 1995 | 312 |
