Disabilities UPDATE :: Public Health Genomics Knowledge Base (v1.0) :: July 28 - August 4, 2016

Public Health Genomics Knowledge Base (v1.0)





July 28 - August 4, 2016 

DISABILITIES

Last Updated: Jul 26, 2016

• 26th ADA Anniversary: Health Is for All of Us 
• 10 Things to Know about the ADA and Beyond
  Disability.gov newsletter, July 2016
• Seventeen Novel Mutations in PCCA and PCCB Genes in Indian Propionic Acidemia Patients, and Their Outcomes.
  Gupta Deepti, et al. Genetic testing and molecular biomarkers 2016 5
• Exome Sequencing and the Management of Neurometabolic Disorders
  Maja Tarailo-Graovac et al, NEJM May 25, 2016
• Genetic Information Nondiscrimination Act. Final rule.
  et al. Federal register 2016 May 81(95) 31143-59
• Regulations Under the Americans With Disabilities Act; Genetic Information Nondiscrimination Act. Final rule.
  et al. Federal register 2016 May 81(95) 31125-43
• Perceptions and Discourses Relating to Genetic Testing: Interviews with People with Down Syndrome.
  Barter Barbara et al. Journal of applied research in intellectual disabilities : JARID 2016 May
• A new prognostic index of severity of intellectual disabilities in Cornelia de Lange syndrome.
  Cereda Anna, et al. American journal of medical genetics. Part C, Seminars in medical genetics 2016 5
• Review - Rheumatoid arthritis: What have we learned about the causing factors?
  Jalil Syed Fazal et al. Pakistan journal of pharmaceutical sciences 2016 Mar 29(2) 629-45
• Prevalence, phenotype and architecture of developmental disorders caused by de novo mutation
  JF McRae et al, Biorxiv, April 2016
• A scoping study to explore the cost-effectiveness of next-generation sequencing compared with traditional genetic testing for the diagnosis of learning disabilities in children.
  Beale Sophie et al. Health technology assessment (Winchester, England) 2015 Jun 19(46) 1-90
• A Genome-wide Association Study of Nonsyndromic Cleft Palate Identifies an Etiologic Missense Variant in GRHL3.
  Leslie Elizabeth J, et al. American journal of human genetics 2016 3
• Reach of the Montana Cancer Control Program to Women with Disabilities.
  Disease: Breast Cancer|Ovarian Cancer; Type: Data|Program; State: Montana
• In Guanine We Trust: Genetic Testing and the Sense of Coherence.
  DuBois James M et al. Narrative inquiry in bioethics 2015 5(3) 237-44
• Whole-Genome Sequencing and Disability in the NICU: Exploring Practical and Ethical Challenges.
  Deem Michael J et al. Pediatrics 2016 Jan 137 Suppl 1S47-55

• CDC Information (3)
• CDC-Authored Pub (0)

• Human (9)
• Pathogen (0)

• Human (101)
• Pathogen (0)

• Human (8)
• Pathogen (0)

• Guidelines (0)
• Tier Table (0)
• Synthesis (3)

• Huamn (8)
• Pathogen (0)

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

Public Health Genomics Knowledge Base (v1.0)