| # | Title | Journal | Year | Citations |
|---|
| 1 | Telomere measurement by quantitative PCR | Nucleic Acids Research | 2002 | 2,841 |
| 2 | Genomic analyses identify molecular subtypes of pancreatic cancer | Nature | 2016 | 2,700 |
| 3 | Exome sequencing identifies the cause of a mendelian disorder | Nature Genetics | 2010 | 1,813 |
| 4 | Coassembly of KVLQT1 and minK (IsK) proteins to form cardiac IKS potassium channel | Nature | 1996 | 1,690 |
| 5 | Positional cloning of a novel potassium channel gene: KVLQT1 mutations cause cardiac arrhythmias | Nature Genetics | 1996 | 1,663 |
| 6 | Association between telomere length in blood and mortality in people aged 60 years or older | Lancet, The | 2003 | 1,569 |
| 7 | Nanopore sequencing and assembly of a human genome with ultra-long reads | Nature Biotechnology | 2018 | 1,443 |
| 8 | An h Per2 Phosphorylation Site Mutation in Familial Advanced Sleep Phase Syndrome | Science | 2001 | 1,339 |
| 9 | MiRP1 Forms IKr Potassium Channels with HERG and Is Associated with Cardiac Arrhythmia | Cell | 1999 | 1,305 |
| 10 | A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Starqardt macular dystrophy | Nature Genetics | 1997 | 1,277 |
| 11 | The Simons Genome Diversity Project: 300 genomes from 142 diverse populations | Nature | 2016 | 1,216 |
| 12 | Telomere length measurement by a novel monochrome multiplex quantitative PCR method | Nucleic Acids Research | 2009 | 1,118 |
| 13 | A novel potassium channel gene, KCNQ2, is mutated in an inherited epilepsy of newborns | Nature Genetics | 1998 | 1,101 |
| 14 | Hemizygosity at the elastin locus in a developmental disorder, Williams syndrome | Nature Genetics | 1993 | 1,057 |
| 15 | Analysis of Genetic Inheritance in a Family Quartet by Whole-Genome Sequencing | Science | 2010 | 979 |
| 16 | Satellite cells, connective tissue fibroblasts and their interactions are crucial for muscle regeneration | Development (Cambridge) | 2011 | 960 |
| 17 | Mutations in Kir2.1 Cause the Developmental and Episodic Electrical Phenotypes of Andersen's Syndrome | Cell | 2001 | 921 |
| 18 | A pore mutation in a novel KQT-like potassium channel gene in an idiopathic epilepsy family | Nature Genetics | 1998 | 875 |
| 19 | Defective Angiogenesis in Mice Lacking Endoglin | Science | 1999 | 791 |
| 20 | Association of Young Maternal Age with Adverse Reproductive Outcomes | New England Journal of Medicine | 1995 | 766 |
| 21 | Mutations in the hminK gene cause long QT syndrome and suppress lKs function | Nature Genetics | 1997 | 766 |
| 22 | GOATOOLS: A Python library for Gene Ontology analyses | Scientific Reports | 2018 | 717 |
| 23 | Chromosomal mapping of two genetic loci associated with blood-pressure regulation in hereditary hypertensive rats | Nature | 1991 | 633 |
| 24 | Evidence‐based path to newborn screening for duchenne muscular dystrophy | Annals of Neurology | 2012 | 633 |
| 25 | Alleles of the APC gene: An attenuated form of familial polyposis | Cell | 1993 | 611 |
| 26 | Vectors for Drosophila P-element-mediated transformation and tissue culture transfection | Gene | 1988 | 599 |
| 27 | A beginner's guide to eukaryotic genome annotation | Nature Reviews Genetics | 2012 | 553 |
| 28 | An Overlapping Protein-Coding Region in Influenza A Virus Segment 3 Modulates the Host Response | Science | 2012 | 543 |
| 29 | Variant of SCN5A Sodium Channel Implicated in Risk of Cardiac Arrhythmia | Science | 2002 | 506 |
| 30 | Distinctive patterns of microRNA expression in primary muscular disorders | Proceedings of the National Academy of Sciences of the United States of America | 2007 | 458 |
| 31 | Simple Methods for Generating and Detecting Locus-Specific Mutations Induced with TALENs in the Zebrafish Genome | PLoS Genetics | 2012 | 422 |
| 32 | Lithium perturbation and goosecoid expression identify a dorsal specification pathway in the pregastrula zebrafish | Development (Cambridge) | 1993 | 422 |
| 33 | Signatures of natural selection in the human genome | Nature Reviews Genetics | 2003 | 421 |
| 34 | Extensive mitochondrial diversity within a single Amerindian tribe. | Proceedings of the National Academy of Sciences of the United States of America | 1991 | 419 |
| 35 | The elastin gene is disrupted by a translocation associated with supravalvular aortic stenosis | Cell | 1993 | 404 |
| 36 | Cell aging in relation to stress arousal and cardiovascular disease risk factors | Psychoneuroendocrinology | 2006 | 391 |
| 37 | The Neuronal Gene Arc Encodes a Repurposed Retrotransposon Gag Protein that Mediates Intercellular RNA Transfer | Cell | 2018 | 382 |
| 38 | An improved genome release (version Mt4.0) for the model legume Medicago truncatula | BMC Genomics | 2014 | 381 |
| 39 | Absence of linkage between the angiotensin converting enzyme locus and human essential hypertension | Nature Genetics | 1992 | 376 |
| 40 | Genome, Functional Gene Annotation, and Nuclear Transformation of the Heterokont Oleaginous Alga Nannochloropsis oceanica CCMP1779 | PLoS Genetics | 2012 | 376 |
| 41 | Genomic signatures of evolutionary transitions from solitary to group living | Science | 2015 | 357 |
| 42 | Notch and Kras reprogram pancreatic acinar cells to ductal intraepithelial neoplasia | Proceedings of the National Academy of Sciences of the United States of America | 2008 | 350 |
| 43 | De novo mutations in ATP1A3 cause alternating hemiplegia of childhood | Nature Genetics | 2012 | 345 |
| 44 | Steroid regulated programmed cell death during Drosophila metamorphosis | Development (Cambridge) | 1997 | 344 |
| 45 | Recoding: Dynamic Reprogramming of Translation | Annual Review of Biochemistry | 1996 | 335 |
| 46 | The origins of SARS-CoV-2: A critical review | Cell | 2021 | 330 |
| 47 | An Empirical Evaluation of Genetic Distance Statistics Using Microsatellite Data From Bear (Ursidae) Populations | Genetics | 1997 | 330 |
| 48 | Hereditary hypertension caused by chimaeric gene duplications and ectopic expression of aldosterone synthase | Nature Genetics | 1992 | 325 |
| 49 | Natural Selection and Molecular Evolution in PTC, a Bitter-Taste Receptor Gene | American Journal of Human Genetics | 2004 | 317 |
| 50 | Capillary gel electrophoresis for rapid, high resolution DNA sequencing | Nucleic Acids Research | 1990 | 305 |
