Last Posted: Apr 28, 2022
- 'We're kind of like genetic nomads': Parents' experiences of biographical disruption and uncertainty following in/conclusive results from newborn cystic fibrosis screening.
Boardman Felicity et al. Social science & medicine (1982) 2022 301114972
- DNA Sequencing Analysis of Cystic Fibrosis Transmembrane Regulator Gene Identifies Cystic Fibrosis-Associated Variants in the Severe Asthma Research Program.
Izquierdo Manuel E et al. Pediatric pulmonology 2022
- Occurrence of Cystic Fibrosis Transmembrane Conductance Regulator Gene Mutations in Patients with Allergic Bronchopulmonary Aspergillosis Complicating Asthma.
Kanaujia Rimjhim et al. Mycopathologia 2022
- Parents' Experiences and Needs Regarding Infant Sickle Cell Trait Results.
Sims Alexandra M et al. Pediatrics 2022
- Things come in threes: A new complex allele and a novel deletion within the CFTR gene complicate an accurate diagnosis of cystic fibrosis.
Persico Ilaria et al. Molecular genetics & genomic medicine 2022 e1926
- Inherited pancreatic exocrine insufficiency and pancreatitis: When children transition to adult care.
Scheers Isabelle et al. Best practice & research. Clinical gastroenterology 2022 56-57101782
- State-of-the-art review of lung imaging in cystic fibrosis with recommendations for pulmonologists and radiologists from the "iMAging managEment of cySTic fibROsis" (MAESTRO) consortium.
Ciet Pierluigi et al. European respiratory review : an official journal of the European Respiratory Society 2022 31(163)
- Comprehensive analysis of recessive carrier status using exome and genome sequencing data in 1543 Southern Chinese.
Chau Jeffrey Fong Ting et al. NPJ genomic medicine 2022 7(1) 23
- Implementation of prognostic machine learning algorithms in paediatric chronic respiratory conditions: a scoping review.
Filipow Nicole et al. BMJ open respiratory research 2022 9(1)
- Anticipating New Treatments for Cystic Fibrosis: A Global Survey of Researchers.
Cabral Bernardo et al. Journal of clinical medicine 2022 11(5)
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
- Cystic Fibrosis
- Duchenne Muscular Dystrophy
- Erythema Multiforme
- Familial Mediterranean Fever
- Fragile X Syndrome
- Gaucher 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.