Last Posted: Oct 18, 2018
- Economic impact of screening for X-linked Adrenoleukodystrophy within a newborn blood spot screening programme.
Bessey Alice et al. Orphanet journal of rare diseases 2018 Oct 13(1) 179
- Rare Disease 2019 Information Packet [PDF 1.00 MB]
NIH, October 2018
- The health system impact of false positive newborn screening results for medium-chain acyl-CoA dehydrogenase deficiency: a cohort study.
Karaceper Maria D et al. Orphanet journal of rare diseases 2016 Feb 1112
- A new integrated and interactive tool applicable to inborn errors of metabolism: Application to alkaptonuria.
Spiga Ottavia et al. Computers in biology and medicine 2018 Oct 1031-7
- Boosting care and knowledge about hereditary cancer: European Reference Network on Genetic Tumour Risk Syndromes.
Vos Janet R et al. Familial cancer 2018 Oct
- Milestone reached in major developmental disorders project
Sanger Institute, October 2018
- Rare Disease 2019 Information Packet
NIH, October 2018
- Effect of Genetic Diagnosis on Patients with Previously Undiagnosed Disease
K Splinter et al, NEJM, October 10, 2018
- Finding Answers for Patients With Rarest of Rare Diseases
Associated Press, New York Times, October 11, 2018
- Monogenic forms of lipodystrophic syndromes: diagnosis, detection, and practical management considerations from clinical cases.
Vatier Camille et al. Current medical research and opinion 2018 Oct 1-22
- CDC Information (3)
- NIH Resources (9)
- CDC-Authored Publications (9)
- State Public Health Genomics Programs (1)
- Epidemiologic Studies (107)
- Translation/Implementation Studies (76)
- Evidence Synthesis (11)
- Guidelines (9)
- Reviews/Commentaries (135)
- Tools/Methods (17)
- Ethical/Legal and Social Issues (19)
- GWAS Catalog (3)
- Grants Supporting Publications
- Genetic Testing (GTR)
- Genetic Disease (OMIM)
- PubMed Review
- PubMed Clinical Queries
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.
- Page last reviewed:Mar 1, 2018
- Page last updated:Oct 19, 2018
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