Last Posted: Dec 11, 2017
- Breakthrough answers on rare disorder that delays childrens first word
A Dou, Sydney Morning Herald, Dec 12, 2017
- Medical Science Should Learn To Tap The Urgency Of Families Desperate To Save Loved Ones
I Kohane, WBUR, Dec 11, 2017
- The accuracy of hospital ICD-9-CM codes for determining Sickle Cell Disease genotype.
Snyder Angela B et al. Journal of rare diseases research & treatment 2017 2(4) 39-45
- [A study of the demand for health care in hereditary-metabolic diseases in a Spanish tertiary care hospital].
Lafuente-Hidalgo M et al. Revista de neurologia 2017 Dec 65(11) 496-502
- Living with a rare disorder: a systematic review of the qualitative literature.
von der Lippe Charlotte et al. Molecular genetics & genomic medicine 2017 Nov 5(6) 758-773
- Next-generation sequencing in clinical practice: from the patients' preferences to the informed consent process.
Pélissier A et al. Public health 2016 138157-9
- The International Rare Diseases Research Consortium: Policies and Guidelines to maximize impact.
Lochmüller Hanns et al. European journal of human genetics : EJHG 2017 Nov
- Clinical Trials Bring Hope to Kids with Spinal Muscular Atrophy
F Collins, NIH Director's blog, Nov 21, 2017
- Cost-effectiveness of massively parallel sequencing for diagnosis of paediatric muscle diseases.
Schofield Deborah et al. NPJ genomic medicine 2017 2
- Marking 15 years of the Genetic and Rare Diseases Information Center.
Lewis Janine et al. Translational science of rare diseases 2017 May 2(1-2) 77-88
- The International Rare Diseases Research Consortium: Policies and Guidelines to maximize impact
H Lochmuller et al, Eur J Human Genetics, Nov 21, 2017
- A Life Saved By Genetic Sequencing
K Raven, Yale Medicine, Nov 20, 2017
- A Wish Realized: Genetic testing solves a family medical mystery
Mayo Clinic, Nov 16, 2017
- Extreme parenting: How the mothers and fathers of children with ultra rare disorders spearhead their own support and research strategies.
K Edwards, Genome Magazine, Nov 16, 2017
- Monogenic Diseases of DNA Repair.
Keijzers Guido et al. The New England journal of medicine 2017 11 (19) 1868-1876
- Health-related quality of life and a cost-utility simulation of adults in the UK with osteogenesis imperfecta, X-linked hypophosphatemia and fibrous dysplasia.
Forestier-Zhang Lydia et al. Orphanet journal of rare diseases 2016 11(1) 160