International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases

Kym M. Boycott*, Ana Rath, Jessica X. Chong, Taila Hartley, Fowzan S. Alkuraya, Gareth Baynam, Anthony J. Brookes, Michael Brudno, Angel Carracedo, Johan T. den Dunnen, Stephanie O. M. Dyke, Xavier Estivill, Jack Goldblatt, Catherine Gonthier, Stephen C. Groft, Ivo Gut, Ada Hamosh, Philip Hieter, Sophie Hoehn, Matthew E. HurlesPetra Kaufmann, Bartha M. Knoppers, Jeffrey P. Krischer, Milan Macek, Gert Matthijs, Annie Olry, Samantha Parker, Justin Paschall, Anthony A. Philippakis, Heidi L. Rehm, Peter N. Robinson, Pak-Chung Sham, Rumen Stefanov, Domenica Taruscio, Divya Unni, Megan R. Vanstone, Feng Zhang, Han Brunner, Michael J. Bamshad, Hanns Lochmueller

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

Original languageEnglish
Pages (from-to)695-705
Number of pages11
JournalAmerican Journal of Human Genetics
Volume100
Issue number5
DOIs
Publication statusPublished - 4 May 2017

Keywords

  • HUMAN PHENOTYPE ONTOLOGY
  • INTELLECTUAL DISABILITY
  • MATCHMAKER EXCHANGE
  • DISCOVERY
  • NETWORK
  • IDENTIFICATION
  • DISORDERS
  • DATABASES
  • PLATFORM
  • PROJECT

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