Last Posted: Nov 30, 2023
- Outcome data from 15 years of cystic fibrosis newborn screening in a large UK region.
Sarah Jane Driscoll et al. Arch Dis Child 2023
- The new face of cystic fibrosis in the era of population genetic carrier screening.
Miri Dotan et al. J Cyst Fibros 2023
- Cystic Fibrosis.
Hartmut Grasemann et al. N Engl J Med 2023 11 (18) 1693-1707
- Effectiveness of preconceptional and prenatal cystic fibrosis carrier screening: a systematic review.
Rita Banzi et al. Epidemiol Prev 2023 47(4-5) 243-256
- Every CFTR variant counts - Target-capture based next-generation-sequencing for molecular diagnosis in the German CF Registry.
Simone Ahting et al. J Cyst Fibros 2023
- Prospects for Expansion of Universal Newborn Screening in Bulgaria: A Survey among Medical Professionals.
Georgi Iskrov et al. Int J Neonatal Screen 2023 9(4)
- The past 10 years of cystic fibrosis treatment: the road to cure.
Claudio Castaños et al. Lancet Respir Med 2023 10 (10) 864-865
- [Comparison of diagnostic data after introduction of cystic fibrosis screening in newborns in Germany].
Lutz Nährlich et al. Bundesgesundheitsblatt Gesundheitsforschung Gesundheitsschutz 2023
- Standards for the care of people with cystic fibrosis (CF): A timely and accurate diagnosis.
Carlo Castellani et al. J Cyst Fibros 2023
- Performance of single-gene noninvasive prenatal testing for autosomal recessive conditions in a general population setting.
Julia Wynn et al. Prenat Diagn 2023
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
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 Public Health Genomics Branch 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.
- Page last reviewed:Oct 1, 2023
- Page last updated:Dec 07, 2023
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