- HLBS-PopOmics -
Last Posted: Nov 07, 2019
- Cystic Fibrosis Diagnosis in Newborns, Children, and Adults.
Castellani Carlo et al. Seminars in respiratory and critical care medicine 2019 Nov
- Cystic fibrosis newborn screening in Denmark: Experience from the first 2 years.
Skov Marianne et al. Pediatric pulmonology 2019 Nov
- Molecular genetic framework underlying pulmonary arterial hypertension.
Southgate Laura et al. Nature reviews. Cardiology 2019 Aug
- Precision medicine: The future of diagnostic approach to pulmonary hypertension?
Kedzierski Piotr et al. Anatolian journal of cardiology 2019 Sep (4) 168-171
- Cystic fibrosis: triple therapy shows promising results
E Mahase, BMJ, November 4, 2019
- Realizing the Dream of Molecularly Targeted Therapies for Cystic Fibrosis.
Collins Francis S et al. The New England journal of medicine 2019 Oct
- Efficacy and safety of the elexacaftor plus tezacaftor plus ivacaftor combination regimen in people with cystic fibrosis homozygous for the F508del mutation: a double-blind, randomised, phase 3 trial
HGM Heijerman et al, Lancet, October 31, 2019
- Elexacaftor–Tezacaftor–Ivacaftor for Cystic Fibrosis with a Single Phe508del Allele
PJ Middleton et al, NEJM, October 31, 2019
- FDA approves new breakthrough therapy for cystic fibrosis- Treatment approved for approximately 90% of patients with cystic fibrosis, many of whom had no approved therapeutic options
FDA News Release, October 2019
- Studies Yield ‘Impressive’ Results in Fight Against Cystic Fibrosis
N Chokshi, NY Times, October 31, 2019
- Elexacaftor-Tezacaftor-Ivacaftor for Cystic Fibrosis with a Single Phe508del Allele.
Middleton Peter G, et al. The New England journal of medicine 2019 11 0. (19) 1809-1819
- Studies Yield 'Impressive' Results in Fight Against Cystic Fibrosis
N Chokshi, NY Times, October 31, 2019
- New Hope For Patients Living With Cystic Fibrosis After Scientists Unveil Therapy
NPR, November 1, 2019
- Dare to Dream: The Long Road to Targeted Therapies for Cystic Fibrosis
NIH Director's Blog, October 31, 2019
- 22q and two: 22q11.2 deletion syndrome and coexisting conditions.
Cohen Jennifer L et al. American journal of medical genetics. Part A 2018 176(10) 2203-2214
- Choroideremia Gene Therapy Phase 2 Clinical Trial: 24-Month Results.
Lam Byron L et al. American journal of ophthalmology 2019 19765-73
- Hereditary myopathy with early respiratory failure (HMERF): Still rare, but common enough.
Tasca Giorgio et al. Neuromuscular disorders : NMD 2018 28(3) 268-276
- Whole Blood Gene Expression Profiling Predicts Severe Morbidity and Mortality in Cystic Fibrosis: A 5-Year Follow-Up Study.
Saavedra Milene T et al. Annals of the American Thoracic Society 2018 15(5) 589-598
- Biomarkers for Clinical Decision-Making in the Management of Pulmonary Embolism.
Giannitsis Evangelos et al. Clinical chemistry 2017 Jan 63(1) 91-100
- Immunoreactive trypsinogen levels in newborn screened infants with an inconclusive diagnosis of cystic fibrosis.
Ooi Chee Y et al. BMC pediatrics 2019 Oct 19(1) 369
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- Genomic Tests Guidelines (57)
- Tier-Classified Guidelines (60)
- Non-Genomics Precision Health (61)
- Pathogen Advanced Molecular Detection (285)
- State Public Health Genomics Programs (29)
- Reviews/Commentaries (497)
- Tools/Methods (12)
- Ethical/Legal and Social Issues (ELSI) (13)
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Mensah GA, Yu W, Barfield WL, Clyne M, Engelgau MM, Khoury MJ. HLBS-PopOmics: an online knowledge base to accelerate dissemination and implementation of research advances in population genomics to reduce the burden of heart, lung, blood, and sleep disorders. Genet Med. 2018 Sep 10. doi: 10.1038/s41436-018-0118-1
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.