Last Posted: Mar 02, 2021
- Defining key outcomes to evaluate performance of newborn screening programmes for cystic fibrosis.
Munck Anne et al. Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society 2021
- Constructing a Bioethical Framework to Evaluate and Optimise Newborn Bloodspot Screening for Cystic Fibrosis.
Armstrong Rachael E et al. International journal of neonatal screening 2020 May 6(2)
- Inconclusive Diagnosis after Newborn Screening for Cystic Fibrosis.
Munck Anne et al. International journal of neonatal screening 2020 Mar 6(1)
- Newborn Screening for CF across the Globe- Where Is It Worthwhile ?
Scotet Virginie et al. International journal of neonatal screening 2020 Mar 6(1)
- The Role of Extended CFTR Gene Sequencing in Newborn Screening for Cystic Fibrosis.
Bergougnoux Anne et al. International journal of neonatal screening 2020 Mar 6(1)
- Current Status of Genetic Diagnosis Laboratories and Frequency of Genetic Variants Associated with Cystic Fibrosis through a Newborn-Screening Program in Turkey.
Bozdogan Sevcan Tug et al. Genes 2021 Jan 12(2)
- It All Depends What You Count-The Importance of Definitions in Evaluation of CF Screening Performance.
Heather Natasha et al. International journal of neonatal screening 2020 Jun 6(2)
- Pancreatitis-Associated Protein in Neonatal Screening for Cystic Fibrosis: Strengths and Weaknesses.
Sommerburg Olaf et al. International journal of neonatal screening 2020 Mar 6(2)
- Performance of a Three-Tier (IRT-DNA-IRT) Cystic Fibrosis Screening Algorithm in British Columbia.
Sinclair Graham et al. International journal of neonatal screening 2020 Jun 6(2)
- Processing Newborn Bloodspot Screening Results for CF.
Barben Jürg et al. International journal of neonatal screening 2020 Mar 6(2)
Rare Disease PHGKB is an online, continuously updated, searchable database of published scientific literature, CDC and NIH resources, and other information that address the public health impact and translation of genomic and other precision health discoveries into improved health outcomes related to rare diseases...more
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Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
- Amyotrophic Lateral Sclerosis
- Brugada Syndrome
- Cerebral Palsy
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- Erythema Multiforme
- Familial Mediterranean Fever
- Fragile X Syndrome
- Gaucher Disease
- Graves Disease
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- Myasthenia Gravis
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Disclaimer: Articles listed in the Public Health Knowledge Base are selected by the CDC Office of Public Health Genomics to provide current awareness of the literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the update, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.