Last Posted: Jan 21, 2021
- Current and novel therapeutic strategies for the management of cystic fibrosis.
Gbian Douweh Leyla et al. Expert opinion on drug delivery 2021 Jan
- Methods and feasibility study for exome sequencing as a universal second-tier test in newborn screening.
Ruiz-Schultz Nicole et al. Genetics in medicine : official journal of the American College of Medical Genetics 2021 Jan
- Newborn Screening for Cystic Fibrosis: Infant and Laboratory Factors Affecting Successful Sweat Test Completion.
Shenoy Ambika et al. International journal of neonatal screening 2020 Dec 7(1)
- Growth, Body Composition, and Lung Function in Prepubertal Children with Cystic Fibrosis Diagnosed by Newborn Screening.
Owen Elizabeth et al. Nutrition in clinical practice : official publication of the American Society for Parenteral and Enteral Nutrition 2020 Dec
- Gene therapy for sickle cell disease.
Olowoyeye Abiola et al. The Cochrane database of systematic reviews 2020 Nov 11CD007652
- Updated guidance on the management of children with cystic fibrosis transmembrane conductance regulator-related metabolic syndrome/cystic fibrosis screen positive, inconclusive diagnosis (CRMS/CFSPID).
Barben Jürg et al. Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society 2020 Nov
- The Changing Face of Cystic Fibrosis and Its Implications for Screening.
Naehrlich Lutz et al. International journal of neonatal screening 2020 Jul 6(3)
- 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
- 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
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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- State Public Health Genomics Programs (25)
- Reviews/Commentaries (218)
- Tools/Methods (3)
- Ethical/Legal and Social Issues (ELSI) (12)
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.