Undiagnosed diseases [NEW TOPIC PAGE]

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Last Posted: Oct 07, 2017

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• Undiagnosed Diseases Program Seeks to Solve Medical Mysteries  
  E Bock, NIH record, Oct 6, 2017
• Defining Disease, Diagnosis, and Translational Medicine within a Homeostatic Perturbation Paradigm: The National Institutes of Health Undiagnosed Diseases Program Experience.  
  Gall Timothy et al. Frontiers in medicine 2017 462
• Japan’s initiative on rare and undiagnosed diseases (IRUD): towards an end to the diagnostic odyssey  
  T Adachi et al, Eur J Human Genetics, July 5, 2017
• 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
• Translation of Nutritional Genomics into Nutrition Practice: The Next Step.  
  Murgia Chiara et al. Nutrients 2017 Apr 9(4)
• Collaboration matters when looking for answers to undiagnosed diseases  
  Lab Blog, Baylor Medicine, February 10, 2017
• The Undiagnosed Diseases Network: Accelerating Discovery about Health and Disease.  
  Ramoni Rachel B et al. American journal of human genetics 2017 Feb 100(2) 185-192
• The Undiagnosed Diseases Network: Accelerating Discovery about Health and Disease  
  Ramon RB et al, AJHG, February 2, 2017
• Candidate-gene criteria for clinical reporting: diagnostic exome sequencing identifies altered candidate genes among 8% of patients with undiagnosed diseases.  
  Farwell Hagman Kelly D et al. Genetics in medicine : official journal of the American College of Medical Genetics 2016 Aug
• The rare and undiagnosed diseases diagnostic service - application of massively parallel sequencing in a state-wide clinical service.  
  Baynam Gareth et al. Orphanet journal of rare diseases 2016 11(1) 77
• Pharmacogenomic incidental findings in 308 families: The NIH Undiagnosed Diseases Program experience.  
  Lee Elizabeth M J et al. Genetics in medicine : official journal of the American College of Medical Genetics 2016 Jun
• The NIH Undiagnosed Diseases Program and Network: Applications to modern medicine.  
  Gahl William A et al. Molecular genetics and metabolism 2016 Jan
• Undiagnosed Diseases Network International (UDNI): White paper for global actions to meet patient needs.  
  Taruscio Domenica et al. Molecular genetics and metabolism 2015 Dec 116(4) 223-5
• The Undiagnosed Diseases Network of the National Institutes of Health: A National Extension.  
  Gahl William A et al. JAMA 2015 Nov 314(17) 1797-8
• PhenomeCentral: A Portal for Phenotypic and Genotypic Matchmaking of Patients with Rare Genetic Diseases.  
  Buske Orion J et al. Hum. Mutat. 2015 Oct 36(10) 931-40
• The Undiagnosed Diseases Network of the National Institutes of Health - A National Extension  
  WA Gahk et al. JAMA, September 17, 2015

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