RARE DISEASES & PUBLIC HEALTH
Last Updated: Aug 29, 2016
- 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 - 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 - Results from a large targeted screening program for alpha-1-antitrypsin deficiency: 2003 - 2015.
Greulich Timm, et al. Orphanet journal of rare diseases 2016 0 (1) 75 - Families Isolated By Rare Genetic Conditions Find New Ways To Reach Out,
by Kat Snow, NPR, June 4, 2016 - Benefits and risks preferences for new medicines in rare diseases
S Ayme, Biomed Central Blog, May 27, 2016 - Next-generation sequencing for diagnosis of rare diseases in the neonatal intensive care unit.
Daoud Hussein et al. CMAJ : Canadian Medical Association journal = journal de l'Association medicale canadienne 2016 May
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