Last Posted: Oct 07, 2017
- 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
- Japans 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