Rare diseases

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




Last Posted: Jun 09, 2017

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• Mendel,MD: A user-friendly open-source web tool for analyzing WES and WGS in the diagnosis of patients with Mendelian disorders  
  Raony G. C. C. L. Cardenas et al, PLOS Biology, June, 2017
• Why study rare genetic conditions?  
  N Rahman, TGMI blog post, June 2, 2017
• 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
• After four years, it took a geneticist a few hours to unravel a boy’s puzzling illness  
  A Bond, Stat News, May 16, 2017
• 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
• 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
• 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
• 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
• International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases  
  KM Boycott et al, AJHG, May 4, 2017
• Life with a Rare Genetic Disease: The Science, the Suffering and the Hope  
  M Angrist, New York Times, April 28, 2017
• When even genome sequencing does not provide a diagnosis.  
  Tech Review, April 2017
• Massive-scale genomic data sharing to improve rare disease diagnosis  
  D MacArthu8r VIDEO presentation, Scripps Institute, Future of Genomic Medicine 2017
• Improving genetic diagnosis in Mendelian disease with transcriptome sequencing  
  BB Cummings et al, Sci Trans Med, April 19, 2017
• Searching for a diagnosis: a network of doctors tries to solve medical mysteries  
  A Gorman, Stat News, April 20, 2017

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