Publications

 

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.-J., Claustres, M., Cotton, R., Cutting, G. et al. (2011). Mutation (variation) databases and registries: a rationale for coordination of 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]
  • 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, R. (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]

Year: 2010

  • 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]
  • 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

  • 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 research use: Toward an effortless system for the Human Variome Project. Genetics in Medicine, 11(12), 843-849 10.109. [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., Axton, M., Barash, C. I., Berkovic, S. F., Brookes, A. J. et al. (2008). The Human Variome Project. Science, 322(5903), 861-862. [Online version]

Year: 2007

  • Cotton, R. G. (2007). Recommendations of the 2006 Human Variome Project meeting. Nature Genetics, 39(4), 433-436. [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

  • 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]
  • SallĂ©e, 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]
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