Last Updated: Jun 02, 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
- Quantifying benefit-risk preferences for new medicines in rare disease patients and caregivers.
Morel T et al. Orphanet journal of rare diseases 2016 11(1) 70
- Genetics professionals' opinions of whole-genome sequencing in the newborn period.
Ulm Elizabeth et al. Journal of genetic counseling 2015 Jun 24(3) 452-63
- Utility of whole exome sequencing for the early diagnosis of pediatric-onset cerebellar atrophy associated with developmental delay in an inbred population.
Megahed Hisham, et al. Orphanet journal of rare diseases 2016 0 (1) 57
- MUC1 gene polymorphisms are associated with serum KL-6 levels and pulmonary dysfunction in pulmonary alveolar proteinosis.
Bonella Francesco, et al. Orphanet journal of rare diseases 2016 0 48
- Understanding the Psychosocial Effects of WES Test Results on Parents of Children with Rare Diseases.
Krabbenborg Lotte et al. Journal of genetic counseling 2016 Apr
- [Desaturases of fatty acids (FADS) and their physiological and clinical implication].
Žák A, et al. Cas Lek Cesk 2016 0 (2) 15-21
- Prevalence and onset of comorbidities in the CDKL5 disorder differ from Rett syndrome.
Mangatt Meghana, et al. Orphanet journal of rare diseases 2016 0 (1) 39
- Survey of healthcare experiences of Australian adults living with rare diseases.
Molster Caron et al. Orphanet journal of rare diseases 2016 11(1) 30
- Importance of glucokinase -258G/A polymorphism in Asian Indians with post-transplant and type 2 diabetes mellitus.
Khan Imran Ali, et al. Intractable & rare diseases research 2016 2 (1) 25-30
- Discovery of a gene associated with a set of poorly understood rare diseases,
IRB Barcelona, March 2, 2016
- The NIH BD2K center for big data in translational genomics.
Paten Benedict et al. Journal of the American Medical Informatics Association : JAMIA 2015 Nov 22(6) 1143-7
- Western Australia Rare Disease Strategic Framework 2015-2018[PDF 1.16 MB]
- Rare Diseases, Genomics and Public Health: An Expanding Intersection
CDC Blog Post
- Posterior cortical atrophy as a primary clinical phenotype of corticobasal syndrome with a progranulin gene rs5848 TT genotype.
Peng Guoping, et al. Orphanet journal of rare diseases 2016 0 (1) 13
- The health system impact of false positive newborn screening results for medium-chain acyl-CoA dehydrogenase deficiency: a cohort study.
Karaceper Maria D et al. Orphanet journal of rare diseases 2016 11(1) 12
- Eosinophilic gastroenteritis in a patient with Bruton's tyrosine kinase deficiency.
Yamazaki Susumu, et al. Pediatrics international : official journal of the Japan Pediatric Society 2016 2
- Public Health and Rare Diseases: Oxymoron No More
Valdez R, et al. Chronic Diseases Volume 13 January 14, 2016
- Role of molecular testing in the multidisciplinary diagnostic approach of ichthyosis.
Diociaiuti Andrea et al. Orphanet journal of rare diseases 2016 11(1) 4
- First genome project diagnoses give hope to two four-year-olds,
by Ian Sample, the Guardian, January 11, 2016
- Review and evaluation of the methodological quality of the existing guidelines and recommendations for inherited neurometabolic disorders.
Cassis Linda et al. Orphanet journal of rare diseases 2015 10(1) 164
- Genotype-phenotype associations in French patients with phenylketonuria and importance of genotype for full assessment of tetrahydrobiopterin responsiveness.
Jeannesson-Thivisol Elise, et al. Orphanet journal of rare diseases 2015 0 (1) 158
- Autism spectrum disorder in tuberous sclerosis complex: searching for risk markers.
Vignoli Aglaia, et al. Orphanet journal of rare diseases 2015 0 154
- The Undiagnosed Diseases Network of the National Institutes of Health: A National Extension.
Gahl William A et al. JAMA 2015 Nov 314(17) 1797-8
- 47 patients with FLNA associated periventricular nodular heterotopia.
Lange Max, et al. Orphanet journal of rare diseases 2015 0 134
- The impact of the genetic background in the Noonan syndrome phenotype induced by K-Ras(V14I).
Hernández-Porras Isabel, et al. Rare diseases (Austin, Tex.) 2015 0 (1) e1045169
- A global reference for human genetic variation.
et al. Nature 2015 Sep 526(7571) 68-74
- Clinical profile of patients with ATP1A3 mutations in Alternating Hemiplegia of Childhood-a study of 155 patients.
Panagiotakaki Eleni, et al. Orphanet journal of rare diseases 2015 0 123
- The Deans Genes and Precision Medicine: A Journey of Discovery and Hope
Don Dean, HHLS Blog Post, September 17, 2015
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