Cystic fibrosis [NEW TOPIC PAGE]

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Last Posted: Dec 13, 2018

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• Metabolic Signatures of Cystic Fibrosis Identified in Dried Blood Spots For Newborn Screening Without Carrier Identification.
  DiBattista Alicia et al. Journal of proteome research 2018 Dec
• Prenatal Diagnosis of Cystic Fibrosis.
  Fedick Anastasia M et al. Methods in molecular biology (Clifton, N.J.) 2019 1885221-231
• A Proposed Approach for Implementing Genomics-Based Screening Programs for Healthy Adults
  M. Murray and the Genomics and Population Health Action Collaborative, National Academies of Medicine, December 3, 2018
• Gene therapy for sickle cell disease.
  Olowoyeye Abiola et al. The Cochrane database of systematic reviews 2018 Nov 11CD007652
• Implementing Genomics-Based Screening Programs for Healthy Adults: A Proposed Evidence-based Approach from the Genomics and Population Health Action Collaborative
  Khoury MJ et al, Blog Post, December 3, 2018
• Expanded carrier screening for monogenic disorders: where are we now?
  Chokoshvili Davit et al. Prenatal diagnosis 2018 38(1) 59-66
• Capitalizing on the heterogeneous effects of CFTR nonsense and frameshift variants to inform therapeutic strategy for cystic fibrosis.
  Sharma Neeraj et al. PLoS genetics 2018 Nov 14(11) e1007723
• Devil in the detail of newborn screening for cystic fibrosis.
  Doull Iolo et al. Archives of disease in childhood 2018 Nov
• Noninvasive paternal exclusion testing for cystic fibrosis in the first five to eight weeks of gestation.
  Zeevi David A et al. Scientific reports 2018 Oct 8(1) 15941
• Pharmacogenomics: What does it mean for your health
  CDC, October 2018

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