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Comparative analysis of a novel disease phenotype network based on clinical manifestations

  • Published:2015-02 Issue: Volume:53 Page:113-120
  • ISSN:1532-0464
  • Container-title:Journal of Biomedical Informatics
  • language:en
  • Short-container-title:Journal of Biomedical Informatics

Author:

Chen Yang,Zhang Xiang,Zhang Guo-qiang,Xu Rong

Funder

Case Western Reserve University/Cleveland Clinic CTSA

US National Science Foundation

Publisher

Elsevier BV

Subject

Health Informatics,Computer Science Applications

Reference49 articles.

1. Splicing mutations of 54-bp exons in the col11a1 gene cause marshall syndrome, but other mutations cause overlapping marshall/stickler phenotypes;Annunen;Am J Human Genet,1999

2. Network medicine: a network-based approach to human disease;Barabási;Nat Rev Genet,2011

3. Form-based clinical input from a structured vocabulary: initial application in ultrasound reporting;Bell,1992

4. The unified medical language system (umls): integrating biomedical terminology;Bodenreider;Nucl Acids Res,2004

5. From syndrome families to functional genomics;Brunner;Nat Rev Genet,2004

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