RARE DISEASES

Public Health Genomics Knowledge Base (v1.0)

RARE DISEASES

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

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

• Human (96)
• Pathogen (0)

• Human (20)
• 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