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References

  • Amberger J, Bocchini C, Hamosh A. 2011. A new face and new challenges for online Mendelian inheritance in man (OMIM). Hum Mutat 32:564567.
  • Ayme S, Urbero B, Oziel D, Lecouturier E, Biscarat A. 1998. Information on rare diseases: the Orphanet project. Rev Med Interne 19:376377.
  • Blomberg N, Ecker G, Kidd R, Mons B, Williams-Jones B. 2011. Knowledge driven discovery goes semantic. Eur Fed Med Chem Yearbook 3943.
  • Bodenreider O. 2008. Biomedical ontologies in action: role in knowledge management, data integration and decision support. Yearb Med Inform 6779.
  • Dhombres F, Vandenbussche P-Y, Rath A, Olry A, Hanauer M, Urbero B, Charlet J. 2011. OntoOrpha : an ontology to support edition and audit of rare diseases knowledge in Orphanet. Proceedings of the 2nd International Conference on Biomedical Ontology (ICBO-2011). Buffalo, NY, USA: Olivier Bodenreider, Maryann E. Martone, Alan Ruttenberg (eds.); pp. 241243.
  • Landais P, Messiaen C, Rath A, Le Mignot L, Dufour E, Ben Said M, Jais JP, Toubiana L, Baujat G, Bourdon-Lanoy E, Gerard-Blanluet M, Bodemer C, and others. 2010. CEMARA task force. CEMARA an information system for rare diseases. Stud Health Technol Inform 160:481485.
  • Lindblom A, Robinson PN. 2011. Bioinformatics for human genetics: promises and challenges. Hum Mutat 32:495500.
  • Messiaen C, Le Mignot L, Rath A, Richard JB, Dufour E, Ben Said M, Jais JP, Verloes A, Le Merrer M, Bodemer C, Baujat G, Gerard-Blanluet M, and others. 2008. CEMARA: a Web dynamic application within a N-tier architecture for rare diseases. Stud Health Technol Inform 136:5156.
  • Miličić Brandt M, Rath A, Devereau A, Ayme S. 2011. Mapping Orphanet terminology to UMLS. In: Proceedings of the 13th Conference on Artificial Intelligence in Medicine. Berlin, Heidelberg: Springer-Verlag; pp. 194203.
  • Webb AJ, Thorisson GA, Brookes AJ; GEN2PHEN Consortium. 2011. An informatics project and online “Knowledge Centre” supporting modern genotype-to-phenotype research. Hum Mutat 32:543550.