| # | Title | Journal | Year | Citations |
|---|
| 1 | A Strong Candidate for the Breast and Ovarian Cancer Susceptibility Gene BRCA1 | Science | 1994 | 5,747 |
| 2 | A Draft Sequence of the Rice Genome ( Oryza sativa L. ssp. japonica ) | Science | 2002 | 2,866 |
| 3 | A Cell Cycle Regulator Potentially Involved in Genesis of Many Tumor Types | Science | 1994 | 2,664 |
| 4 | Identification of a candidate tumour suppressor gene, MMAC1, at chromosome 10q23.3 that is mutated in multiple advanced cancers | Nature Genetics | 1997 | 2,596 |
| 5 | The genome of the domesticated apple (Malus × domestica Borkh.) | Nature Genetics | 2010 | 1,891 |
| 6 | Tsg101 and the Vacuolar Protein Sorting Pathway Are Essential for HIV-1 Budding | Cell | 2001 | 1,265 |
| 7 | BRCA1 mutations in primary breast and ovarian carcinomas | Science | 1994 | 1,167 |
| 8 | Kcnq1ot1 Antisense Noncoding RNA Mediates Lineage-Specific Transcriptional Silencing through Chromatin-Level Regulation | Molecular Cell | 2008 | 1,114 |
| 9 | Prognostic value of an RNA expression signature derived from cell cycle proliferation genes in patients with prostate cancer: a retrospective study | Lancet Oncology, The | 2011 | 668 |
| 10 | Sequence variants in the genes for the interleukin-23 receptor (IL23R) and its ligand (IL12B) confer protection against psoriasis | Human Genetics | 2007 | 373 |
| 11 | TBCRC009: A Multicenter Phase II Clinical Trial of Platinum Monotherapy With Biomarker Assessment in Metastatic Triple-Negative Breast Cancer | Journal of Clinical Oncology | 2015 | 351 |
| 12 | Common origins of BRCA1 mutations in Canadian breast and ovarian cancer families | Nature Genetics | 1994 | 313 |
| 13 | A study of over 35,000 women with breast cancer tested with a 25‐gene panel of hereditary cancer genes | Cancer | 2017 | 303 |
| 14 | A mutation in PCSK9 causing autosomal-dominant hypercholesterolemia in a Utah pedigree | Human Genetics | 2004 | 292 |
| 15 | PTEN, PIK3CA, p-AKT, and p-p70S6K Status | American Journal of Pathology | 2010 | 276 |
| 16 | The febrile response to lipopolysaccharide is blocked in cyclooxygenase-2−/−, but not in cyclooxygenase-1−/− mice | Brain Research | 1999 | 247 |
| 17 | Cyclooxygenase-2 Contributes to Functional Hyperemia in Whisker-Barrel Cortex | Journal of Neuroscience | 2000 | 247 |
| 18 | HIV Gag mimics the Tsg101-recruiting activity of the human Hrs protein | Journal of Cell Biology | 2003 | 238 |
| 19 | Phase II Study of Gemcitabine, Carboplatin, and Iniparib As Neoadjuvant Therapy for Triple-Negative and BRCA1/2 Mutation–Associated Breast Cancer With Assessment of a Tumor-Based Measure of Genomic Instability: PrECOG 0105 | Journal of Clinical Oncology | 2015 | 200 |
| 20 | Predisposition Locus for Major Depression at Chromosome 12q22-12q23.2 | American Journal of Human Genetics | 2003 | 176 |
| 21 | Loss of E2F4 Activity Leads to Abnormal Development of Multiple Cellular Lineages | Molecular Cell | 2000 | 155 |
| 22 | Analysis of missense variation in human BRCA1 in the context of interspecific sequence variation | Journal of Medical Genetics | 2004 | 141 |
| 23 | The Human Endosomal Sorting Complex Required for Transport (ESCRT-I) and Its Role in HIV-1 Budding | Journal of Biological Chemistry | 2004 | 134 |
| 24 | Interpreting epidemiological research: blinded comparison of methods used to estimate the prevalence of inherited mutations in BRCA1 | Journal of Medical Genetics | 2001 | 132 |
| 25 | The Human-Bacterial Pathogen Protein Interaction Networks of Bacillus anthracis, Francisella tularensis, and Yersinia pestis | PLoS ONE | 2010 | 131 |
| 26 | A Dense Single-Nucleotide Polymorphism-Based Genetic Linkage Map of Grapevine (Vitis viniferaL.) Anchoring Pinot Noir Bacterial Artificial Chromosome Contigs | Genetics | 2007 | 126 |
| 27 | BRCA1/2 mutation analysis in 41 ovarian cell lines reveals only one functionally deleterious BRCA1 mutation | Molecular Oncology | 2013 | 121 |
| 28 | Genetic Mapping in the Presence of Genotyping Errors | Genetics | 2007 | 113 |
| 29 | Chrysanthemyl diphosphate synthase: Isolation of the gene and characterization of the recombinant non-head-to-tail monoterpene synthase from Chrysanthemum cinerariaefolium | Proceedings of the National Academy of Sciences of the United States of America | 2001 | 110 |
| 30 | Comparison of BRCA1 polymorphisms, rare sequence variants and/or missense mutations in unaffected and breast/ovarian cancer populations | Human Molecular Genetics | 1996 | 107 |
| 31 | BRCA1/2 mutations and expression: Response to platinum chemotherapy in patients with advanced stage epithelial ovarian cancer | Gynecologic Oncology | 2012 | 103 |
| 32 | Polyphosphoinositides Inhibit the Interaction of Vinculin with Actin Filaments | Journal of Biological Chemistry | 1999 | 101 |
| 33 | Genetic Localization to Chromosome 1p32 of the Third Locus for Familial Hypercholesterolemia in a Utah Kindred | Arteriosclerosis, Thrombosis, and Vascular Biology | 2000 | 95 |
| 34 | Evidence for HTR1A and LHPP as interacting genetic risk factors in major depression | Molecular Psychiatry | 2009 | 92 |
| 35 | Germline multi-gene hereditary cancer panel testing in an unselected endometrial cancer cohort | Modern Pathology | 2016 | 90 |
| 36 | PTEN loss in biopsy tissue predicts poor clinical outcomes in prostate cancer | International Journal of Urology | 2014 | 86 |
| 37 | An independent validation of a gene expression signature to differentiate malignant melanoma from benign melanocytic nevi | Cancer | 2017 | 86 |
| 38 | Phenotypic Expression of Disease in Families That Have Mutations in the 5′ Region of the Adenomatous Polyposis Coli Gene | Annals of Internal Medicine | 1997 | 85 |
| 39 | Incidence of non-founder BRCA1 and BRCA2 mutations in high risk Ashkenazi breast and ovarian cancer families | Journal of Medical Genetics | 2002 | 84 |
| 40 | A RAPD Genetic Map of Saccharum officinarum | Crop Science | 1996 | 79 |
| 41 | A Multigene Signature Based on Cell Cycle Proliferation Improves Prediction of Mortality Within 5 Yr of Radical Nephrectomy for Renal Cell Carcinoma | European Urology | 2018 | 63 |
| 42 | The Mammalian 2′-5′ Oligoadenylate Synthetase Gene Family: Evidence for Concerted Evolution of Paralogous Oas1 Genes in Rodentia and Artiodactyla | Journal of Molecular Evolution | 2006 | 61 |
| 43 | Phase II neoadjuvant clinical trial of carboplatin and eribulin in women with triple negative early-stage breast cancer (NCT01372579) | Breast Cancer Research and Treatment | 2015 | 61 |
| 44 | Homologous recombination deficiency (HRD) score in germline BRCA2- versus ATM-altered prostate cancer | Modern Pathology | 2021 | 61 |
| 45 | Evolution of the DAZ gene family suggests that Y-linked DAZ plays little, or a limited, role in spermatogenesis but underlines a recent African origin for human populations | Human Molecular Genetics | 1998 | 60 |
| 46 | A P1-based physical map of the region from D17S776 to D17S78 containing the breast cancer susceptibility gene BRCA1 | Human Molecular Genetics | 1994 | 59 |
| 47 | Proteomic screening of variola virus reveals a unique NF-κB inhibitor that is highly conserved among pathogenic orthopoxviruses | Proceedings of the National Academy of Sciences of the United States of America | 2009 | 59 |
| 48 | Mutation Update for UBE3A Variants in Angelman Syndrome | Human Mutation | 2014 | 56 |
| 49 | Cloning of mid-G1 serum response genes and identification of a subset regulated by conditional myc expression. | Molecular Biology of the Cell | 1994 | 54 |
| 50 | Cladribine: not just another purine analogue? | Expert Opinion on Investigational Drugs | 2009 | 51 |
