Rare diseases

https://phgkb.cdc.gov/GAPPKB/phgHome.do

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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• Painting a new picture of personalised medicine for diabetes.  
  McCarthy Mark I et al. Diabetologia 2017 May 60(5) 793-799
• Public-Private Partnerships in Cloud-Computing Services in the Context of Genomic Research.  
  Granados Moreno Palmira et al. Frontiers in medicine 2017 43
• A novel 33-Gene targeted resequencing panel provides accurate, clinical-grade diagnosis and improves patient management for rare inherited anaemias.  
  Roy Noémi B A et al. British journal of haematology 2016 Oct 175(2) 318-330
• 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

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