Last Posted: Nov 12, 2020
- Factors influencing medical practitioner participation in population carrier screening for cystic fibrosis.
Valente Giulia M et al. The Australian & New Zealand journal of obstetrics & gynaecology 2020 Nov
- NGS-based expanded carrier screening for genetic disorders in North Indian population reveals unexpected results - a pilot study.
Singh Kanika et al. BMC medical genetics 2020 Nov 21(1) 216
- The Changing Face of Cystic Fibrosis and Its Implications for Screening.
Naehrlich Lutz et al. International journal of neonatal screening 2020 Sep 6(3) 54
- Newborn Screening for Cystic Fibrosis: Over the Hump, Still Need to Fine-Tune It.
Castellani Carlo et al. International journal of neonatal screening 2020 Sep 6(3) 57
- The first five-year evaluation of cystic fibrosis neonatal screening program in São Paulo State, Brazil.
Maciel Léa Maria Zanini et al. Cadernos de saude publica 2020 36(10) e00049719
- Newborn Screening for CF across the Globe- Where Is It Worthwhile ?
Scotet Virginie et al. International journal of neonatal screening 2020 Mar 6(1) 18
- 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) 46
- Processing Newborn Bloodspot Screening Results for CF.
Barben Jürg et al. International journal of neonatal screening 2020 Jun 6(2) 25
- Comparison between two newborn screening strategies for cystic fibrosis in Argentina: IRT/IRT vs. IRT/PAP.
Teper Alejandro et al. Pediatric pulmonology 2020 Oct
- How precision medicine paved the way to the first cystic fibrosis drug- Heartbreak, sacrifice, genetics and venture philanthropy — this book has it all.
H Ledford, Nature News, October 26, 2020
- 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 Jun 6(2) 40
- Cystic Fibrosis Newborn Screening in Portugal: PAP Value in Populations with Stringent Rules for Genetic Studies.
Marcão Ana et al. International journal of neonatal screening 2018 Sep 4(3) 22
- Inconclusive Diagnosis after Newborn Screening for Cystic Fibrosis.
Munck Anne et al. International journal of neonatal screening 2020 Mar 6(1) 19
- Initial Evaluation of Prospective and Parallel Assessments of Cystic Fibrosis Newborn Screening Protocols in Eastern Andalusia: IRT/IRT versus IRT/PAP/IRT.
Sadik Ilham et al. International journal of neonatal screening 2019 Sep 5(3) 32
- 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) 47
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 discoveries into improved health outcomes related to rare diseases...more
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- Genomic Tests Evidence Synthesis (28)
- Genomic Tests Guidelines (12)
- Non-Genomics Precision Health (1)
- Pathogen Advanced Molecular Detection (18)
- State Public Health Genomics Programs (25)
- Reviews/Commentaries (209)
- Tools/Methods (3)
- Ethical/Legal and Social Issues (ELSI) (11)
Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
- Amyotrophic Lateral Sclerosis
- Brugada Syndrome
- Cerebral Palsy
- Cystic Fibrosis
- Duchenne Muscular Dystrophy
- Erythema Multiforme
- Familial Mediterranean Fever
- Fragile X Syndrome
- Gaucher Disease
- Graves Disease
- Huntington Disease
- Myasthenia Gravis
- Retinitis Pigmentosa
- Severe Combined Immunodeficiency
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.