Publications

 

Year: 2013

  • Kohonen-Corish, M. R., Smith, T. D., Robinson, H. M. & H,. (2013). Beyond the genomics blueprint: the 4th Human Variome Project Meeting, UNESCO, Paris, 2012. Genetics in Medicine, Advance Online Publication. [Online version]

Year: 2012

  • Celli, J., Dalgleish, R., Vihinen, M., Taschner, P. E. & den Dunnen, J. T. (2012). Curating gene variant databases (LSDBs): Toward a universal standard. Human Mutation, 33(2), 291-297. [Online version]
  • Editor, T. (2012). On not reinventing the wheel. Nature Genetics, 44, 233. [Online version]
  • Howard, H. J., Beaudet, A., Lopes, V. G., Lyne, M., Suthers, G., den Akker, P. V. et al. (2012). Disease-specific databases: Why we need them and some recommendations from the Human Variome Project Meeting, May 28, 2011. American Journal of Medical Genetics Part A, 158A(11), 2763-2766. [Online version]
  • Patrinos, G. P., Smith, T. D., Howard, H., Al-Mulla, F., Chouchane, L., Hadjisavvas, A. et al. (2012). Human Variome Project Country Nodes: Documenting genetic information within a country. Human Mutation, 33(11), 1513-1519. [Online version]
  • Plazzer, J.-P., den Dunnen, J. T., Smith, T. D., Macrae, F. & Cotton, R. G. (2012). Reporting of Genetic Variants by Diagnostic Laboratories and other Centres. The Clinical Biochemist – Reviews, 33(1), 21-24. [Online version]
  • Smith, T. D., Robinson, H. M. & Cotton, R. G. (2012). The Human Variome Project Beijing meeting. Journal of Medical Genetics, 49(4), 284-289. [Online version]
  • Vihinen, M., den Dunnen, J. T., Dalgleish, R. & Cotton, R. G. (2012). Guidelines for establishing locus specific databases. Human Mutation, 33(2), 298-305. [Online version]

Year: 2011

  • AlAama, J., Smith, T. D., Lo, A., Howard, H., Kline, A. A., Lange, M. et al. (2011). Initiating a Human Variome Project Country Node. Human Mutation, 32(5), 501-506. [Online version]
  • Auerbach, A. D., Burn, J., Cassiman, J. -., Claustres, M., Cotton, R., Cutting, G. et al. (2011). Mutation (variation) databases and registries: a rationale for coordinationof efforts. Nature Reviews Genetics, 12, 881. [Online version]
  • Cotton, R. G., Vihinen, M., den Dunnen for the Human Variome Project Nomenclature, . & Group, J. T. (2011). Genetic Tests Need the Human Variome Project. Genetic Testing and Molecular Biomarkers, 15(1-2), 3-3. [Online version]
  • Editor, T. (2011). Crowdsourcing human mutations. Nature Genetics, 43, 279. [Online version]
  • Fokkema, I. F., Taschner, P. E., Schaafsma, G. C., Celli, J., Laros, J. F. & den Dunnen, J. T. (2011). LOVD v.2.0: the next generation in gene variant databases. Human Mutation, 32(5), 557-563. [Online version]
  • Ozdemir, V., Rosenblatt, D. S., Warnich, L., Srivastava, S., Tadmouri, G. O., Aziz, R. K. et al. (2011). Towards an Ecology of Collective Innovation: Human Variome Project (HVP), Rare Disease Consortium for Autosomal Loci (RaDiCAL) and Data-Enabled Life Sciences Alliance (DELSA). Current Pharmacogenomics and Personalized Medicine, 9(4), 243-25. [Online version]
  • Patrinos, G. P., Aama, J. A., Aqeel, A. A., Al-Mulla, F., Borg, J., Devereux, A. et al. (2011). Recommendations for genetic variation data capture in developing countries to ensure a comprehensive worldwide data collection. Human Mutation, 32(1), 2-9. [Online version]
  • Samuels, M. E. & Rouleau, G. A. (2011). The case for locus-specific databases. Nature Reviews Genetics, 12, 378-379. [Online version]
  • Taschner, P. E. & den Dunnen, J. T. (2011). Describing structural changes by extending HGVS sequence variation nomenclature. Human Mutation, 32(5), 507-511. [Online version]

Year: 2010

  • Cotton, R. G. & Macrae, F. A. (2010). Reducing the burden of inherited disease: the Human Variome Project. The Medical Journal of Australia, 192(11), 628-629. [Online version]
  • Howard, H. J., Horaitis, O., Cotton, R. G., Vihinen, M., Dalgleish, R., Robinson, P. et al. (2010). The Human Variome Project (HVP) 2009 Forum Towards Establishing Standards. Human Mutation, 31(3), 366-367. [Online version]
  • Kaput, J., Evelo, C., Perozzi, G., van Ommen, B. & Cotton, R. (2010). Connecting the Human Variome Project to nutrigenomics. Genes and Nutrition, 5, 275-283. [Online version]
  • Kohonen-Corish, M. R., Al-Aama, J. Y., Auerbach, A. D., Axton, M., Barash, C. I., Bernstein, I. et al. (2010). How to catch all those mutations---the report of the third Human Variome Project Meeting, UNESCO Paris, May 2010. Human Mutation, 31(12), 1374-1381. [Online version]
  • Mitropoulou, C., Webb, A. J., Mitropoulos, K., Brookes, A. J. & Patrinos, G. P. (2010). Locus-specific database domain and data content analysis: evolution and content maturation toward clinical usea. Human Mutation, 31(10), 1109-1116. [Online version]
  • Povey, S., Aqeel, A. I., Cambon-Thomsen, A., Dalgleish, R., den Dunnen, J. T., Firth, H. V. et al. (2010). Practical guidelines addressing ethical issues pertaining to the curation of human locus-specific variation databases (LSDBs). Human Mutation, 31(11), 1179-1184. [Online version]

Year: 2009

  • Brookes, A. J., Lehvaslaiho, H., Muilu, J., Shigemoto, Y., Oroguchi, T., Tomiki, T. et al. (2009). The phenotype and genotype experiment object model (PaGE-OM): a robust data structure for information related to DNA variation. Human Mutation, 30(6), 968-977. [Online version]
  • Cotton, R. G. (2009). Collection of variation causing disease: The Human Variome Project. Human Genomics, 3(4), 301-303. [Online version]
  • Cotton, R. G., Aqeel, A. I., Al-Mulla, F., Carrera, P., Claustres, M., Ekong, R. et al. (2009). Capturing all disease-causing mutations for clinical and researchuse: Toward an effortless system for the Human Variome Project. Genetics in Medicine, 11(12), 843-84910.109. [Online version]
  • Kaput, J., Cotton, R. G., Hardman, L., Watson, M., Aqeel, A. I., Al-Aama, J. Y. et al. (2009). Planning the Human Variome Project: The Spain report. Human Mutation, 30(4), 496-510. [Online version]
  • den Dunnen, J. T., Sijmons, R. H., Andersen, P. S., Vihinen, M., Beckmann, J. S., Rossetti, S. et al. (2009). Sharing data between LSDBs and central repositories. Human Mutation, 30(4), 493-495. [Online version]

Year: 2008

  • Cotton, R. G. & Hardman, L. (2008). Human Variome Project: progress and plans. Personalized Medicine, 5(2), 99-100. [Online version]
  • Cotton, R. G., Auerbach, A. D., Beckmann, J. S., Blumenfeld, O. O., Brookes, A. J., Brown, A. F. et al. (2008a). Recommendations for locus-specific databases and their curation. Human Mutation, 29(1), 2-5. [Online version]
  • Cotton, R. G., Auerbach, A. D., Axton, M., Barash, C. I., Berkovic, S. F., Brookes, A. J. et al. (2008b). The Human Variome Project. Science, 322(5903), 861-862. [Online version]
  • Editor, T. (2008). Human Variome Microattribution Reviews. Nature Genetics, 40, 1. [Online version]
  • Olivier, M., Petitjean, A., Teague, J., Forbes, S., Dunnick, J. K., den Dunnen, J. et al. (2008). Somatic mutation databases as tools for molecular epidemiology and molecular pathology of cancer: Proposed guidelines for improving data collection, distribution, and integration. Human Mutation, 30(3), 275–282. [Online version]
  • Plon, S. E., Eccles, D. M., Easton, D., Foulkes, W. D., Genuardi, M., Greenblatt, M. S. et al. (2008). Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test results. Human Mutation, 29(11), 1282-1291. [Online version]
  • Wildeman, M., van Ophuizen, E., den Dunnen, J. T. & Taschner, P. E. (2008). Improving sequence variant descriptions in mutation databases and literature using the Mutalyzer sequence variation nomenclature checker. Human Mutation, 29(1), 6-13. [Online version]

Year: 2007

  • Cotton, R. G. (2007). Recommendations of the 2006 Human Variome Project meeting. Nature Genetics, 39(4), 433-436. [Online version]
  • Cotton, R. G., Auerbach, A. D., Brown, A. F., Carrera, P., Christodoulou, J., Claustres, M. et al. (2007). A structured simple form for ordering genetic tests is needed to ensure coupling of clinical detail (phenotype) with DNA variants (genotype) to ensure utility in publication and databases. Human Mutation, 28(10), 931-932. [Online version]
  • Editor, T. (2007a). Compete, collaborate, compel. Nature Genetics, 39, 931. [Online version]
  • Editor, T. (2007b). What is the Human Variome Project?. Nature Genetics, 39, 423. [Online version]
  • Horaitis, O., Talbot, C. C., Phommarinh, M., Phillips, K. M. & Cotton, R. G. (2007). A database of locus-specific databases. Nature Genetics, 39(4), 425-425. [Online version]

Year: 2006

  • Editor, T. (2006). The germinating seed of Arab genomics. Nature Genetics, 38, 851. [Online version]
  • Ring, H. Z., Kwok, P.-Y. & Cotton, R. G. (2006). Human Variome Project: an international collaboration to catalogue human genetic variation. Pharmacogenomics, 7(7), 969-972. [Online version]

Year: 2005

  • Cotton, R. G. & Kazazian, H. H. (2005). Toward a Human Variome Project. Human Mutation, 26(6), 499-499. [Online version]
  • Patrinos, G. P. & Brookes, A. J. (2005). DNA, diseases and databases: disastrously deficient. Trends in Genetics, 21(6), 333 - 338. [Online version]
  • Sallée, R. G. & Knoppers, B. M. (2005). Locus-Specific Databases: From Ethical Principles to Practice. Human Mutation, 26(5), 489-493. [Online version]

Year: 2004

  • Horaitis, O. & Cotton, R. G. (2004). The challenge of documenting mutation across the genome: The human genome variation society approach. Human Mutation, 23(5), 447-452. [Online version]

Year: 2000

  • Dunnen, J. T., Antonarakis, S. E. & Others. (2000). Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion. Human Mutation, 15(1), 7-12. [Online version]
Results 1 - 47 of 47