RARE DISEASES ▲ Public Health Genomics Knowledge Base (v1.2)

Public Health Genomics Knowledge Base (v1.2)

RARE DISEASES

Last Updated: Sep 28, 2016

• The collective impact of rare diseases in Western Australia: an estimate using a population-based cohort.
  Walker Caroline E et al. Genetics in medicine : official journal of the American College of Medical Genetics 2016 Sep
• The collective impact of rare diseases in Western Australia: an estimate using a population-based cohort
  CE Walker et al, Genetics in Medicine, September 22, 2016
• Genetic variation: ExAC boosts clinical variant interpretation in rare diseases.
  Bahcall Orli G, et al. Nature reviews. Genetics 2016 9 (10) 584
• Let the Individuals Directly Concerned Decide: A Solution to Tragic Choices in Genetic Risk Information.
  Oliveri Serena et al. Public health genomics 2016 Sep 19(5)
• Ataxia, dystonia and myoclonus in adult patients with Niemann-Pick type C.
  Koens L H, et al. Orphanet journal of rare diseases 2016 0 (1) 121
• Medical disorders: Stop marginalizing rare syndromes
  SO Kolset, Nature, August 2016
• Improving diagnosis of inherited peripheral neuropathies through gene panel analysis.
  Laššuthová Petra, et al. Orphanet journal of rare diseases 2016 0 (1) 118
• Collaborative Crowdsourcing for the Diagnosis of Rare Genetic Syndromes: The DYSCERNE Experience.
  Douzgou Sofia et al. Public health genomics 2016 19(1) 19-24
• Candidate-gene criteria for clinical reporting: diagnostic exome sequencing identifies altered candidate genes among 8% of patients with undiagnosed diseases
  Kelly D. Farwell Hagman et al, Genetics in Medicine, August 11, 2016
• Ultra-rare Disease and Genomics-Driven Precision Medicine.
  Lee Sangmoon et al. Genomics & informatics 2016 Jun (2) 42-5
• Mom of first person saved by DNA sequencing fighting to increase access
  M Carstensen, Fix News, August 3, 2016
• Expanding the Spectrum of Genes Involved in Huntington Disease Using a Combined Clinical and Genetic Approach.
  Mariani Louise-Laure et al. JAMA neurology 2016 Jul
• Whole exome sequencing diagnosis of inborn errors of metabolism and other disorders in United Arab Emirates.
  Al-Shamsi Aisha et al. Orphanet journal of rare diseases 2016 11(1) 94
• MYH7-related myopathies: clinical, histopathological and imaging findings in a cohort of Italian patients.
  Fiorillo C, et al. Orphanet journal of rare diseases 2016 0 (1) 91
• The clinical utility of whole-exome sequencing in the context of rare diseases - the changing tides of medical practice.
  Nguyen M T et al. Clinical genetics 2015 Oct 88(4) 313-9

• CDC Information (1)
• CDC-Authored Pub (6)

• Human (25)
• Pathogen (0)

• Human (103)
• Pathogen (0)

• Human (27)
• Pathogen (0)

• Guidelines (4)
• Tier Table (0)
• Synthesis (5)

Relevant Resources

• Cancer Genomics and Epidemiology Navigator (CGEN)
• Genetics and Genomics Competencies Center (G2C2)
• NIH Genetic Testing Registry
• NIH MedGen Database
• Online Mendelian Inheritance in Man (OMIM)
• PharmGKB