Initiating an undiagnosed diseases program in the Western Australian public health system

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From From Genomics & Health Impact Scan Database

This database includes published scientific literature on evidence-based translation of genomic discoveries into improved health care and disease prevention that have a potential impact on population health.

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• Initiating an undiagnosed diseases program in the Western Australian public health system.  
  Baynam Gareth et al. Orphanet journal of rare diseases 2017 May 12(1) 83
• Design and Implementation of the Hepatorenal Fibrocystic Disease Core Center Clinical Database: A Centralized Resource for Characterizing Autosomal Recessive Polycystic Kidney Disease and Other Hepatorenal Fibrocystic Diseases.  
  Alzarka Bakri et al. Frontiers in pediatrics 2017 580
• International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases.  
  Boycott Kym M et al. American journal of human genetics 2017 May 100(5) 695-705
• Australian children living with rare diseases: experiences of diagnosis and perceived consequences of diagnostic delays.  
  Zurynski Yvonne et al. Orphanet journal of rare diseases 2017 Apr 12(1) 68
• ApreciseKUre: an approach of Precision Medicine in a Rare Disease.  
  Spiga Ottavia et al. BMC medical informatics and decision making 2017 Apr 17(1) 42

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