Undiagnosed diseases [NEW TOPIC PAGE]

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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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• 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
• Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases.  
  Genome Biol. 2015 16(1) 134
• The implications of familial incidental findings from exome sequencing: the NIH Undiagnosed Diseases Program experience.  
  Lawrence L, et al. Genetics in medicine : official journal of the American College of Medical Genetics 2014 10 (10) 10

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