Newborn screening UPDATE || Public Health Genomics Knowledge Base (v1.2) :: August 11-18, 2016

Public Health Genomics Knowledge Base (v1.2)



August 11-18, 2016 


Last Updated: Aug 11, 2016

• Parent Experience With False-Positive Newborn Screening Results for Cystic Fibrosis.
  Hayeems Robin Z et al. Pediatrics 2016 Aug
• 221 newborn-screened neonates with medium-chain acyl-coenzyme A dehydrogenase deficiency: Findings from the Inborn Errors of Metabolism Collaborative.
  Bentler Kristi, et al. Molecular genetics and metabolism 2016 7
• Newborn screening and prophylactic interventions for sickle cell disease in 47 countries in sub-Saharan Africa: a cost-effectiveness analysis.
  Kuznik Andreas et al. BMC health services research 2016 16(1) 304
• Twenty-year follow-up of newborn screening for patients with muscular dystrophy.
  Chung Jeffrey et al. Muscle & nerve 2016 Apr 53(4) 570-8
• Infrastructure and Educational Needs of Newborn Screening Short-Term Follow-Up Programs within the Southeast Regional Newborn Screening & Genetics Collaborative: A Pilot Survey
  Disease: NA; Type: Data|Education|Program; State: Multiple States
• Showing Value in Newborn Screening: Challenges in Quantifying the Effectiveness and Cost-Effectiveness of Early Detection of Phenylketonuria and Cystic Fibrosis
  Disease: NA; Type: Data; State: Multiple States
• The M405V allele of the glutaryl-CoA dehydrogenase gene is an important marker for glutaric aciduria type I (GA-I) low excretors.
  Schillaci Lori-Anne P, et al. Molecular genetics and metabolism 2016 7
• Molecular newborn screening of four genetic diseases in Guizhou Province of South China.
  Huang Shengwen et al. Gene 2016 Jul
• The Influence of Education on Public Trust and Consent Preferences With Residual Newborn Screening Dried Blood spots.
  Rothwell Erin et al. Journal of empirical research on human research ethics : JERHRE 2016 Jul
• IGNITE: Implementing Genomics in Practice
  Disease: Multiple Diseases; Type: Education|Tools; State: Multiple States
• Informed Consent Should Be a Required Element for Newborn Screening, Even for Disorders with High Benefit-Risk Ratios.
  Fost Norman et al. The Journal of law, medicine & ethics : a journal of the American Society of Law, Medicine & Ethics 2016 Jun 44(2) 241-55
• Newborn screening for congenital adrenal hyperplasia in New York State.
  Pearce Melissa et al. Molecular genetics and metabolism reports 2016 Jun 71-7
• Newborn screening for X-linked adrenoleukodystrophy: evidence summary and advisory committee recommendation.
  Kemper Alex R et al. Genetics in medicine : official journal of the American College of Medical Genetics 2016 Jun
• Newborn Screening Programmes in Europe, Arguments and Efforts Regarding Harmonisation: Focus on Organic Acidurias.
  Hörster Friederike et al. JIMD reports 2016 Jun
• Screening of Newborns for Disorders with High Benefit-Risk Ratios Should Be Mandatory.
  Kelly Nicole et al. The Journal of law, medicine & ethics : a journal of the American Society of Law, Medicine & Ethics 2016 Jun 44(2) 231-40

• CDC Information (10)
• CDC-Authored Pub (28)

• Human (67)
• Pathogen (0)

• Human (290)
• Pathogen (0)

• Human (202)
• Pathogen (0)

• Guidelines (11)
• Tier Table (0)
• Synthesis (25)

• Huamn (68)
• 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