Last Posted: Dec 03, 2018
- Can untreated PKU patients escape from intellectual disability? A systematic review.
van Vliet Danique et al. Orphanet journal of rare diseases 2018 Aug (1) 149
- Transplantation of Hematopoietic Stem Cells for Primary Immunodeficiencies in Brazil: Challenges in Treating Rare Diseases in Developing Countries.
Fernandes Juliana Folloni et al. Journal of clinical immunology 2018 Nov
- Genetics meets dna methylation in rare diseases.
Velasco Guillaume et al. Clinical genetics 2018 Nov
- Modern methods in diagnostics and research of molecular bases of rare diseases.
Kmoch Stanislav et al. Casopis lekaru ceskych 2018 157(3) 133-136
- From scientific discovery to treatments for rare diseases - the view from the National Center for Advancing Translational Sciences - Office of Rare Diseases Research.
Kaufmann Petra et al. Orphanet journal of rare diseases 2018 Nov 13(1) 196
- Impact of biobanks on research outcomes in rare diseases: a systematic review.
Garcia Monique et al. Orphanet journal of rare diseases 2018 Nov 13(1) 202
- Glycomics in rare diseases: from diagnosis to mechanism.
Davids Mariska et al. Translational research : the journal of laboratory and clinical medicine 2018 Oct
- Toward personalized medicine in Bardet-Biedl syndrome.
Kenny Joanna et al. Personalized medicine 2017 14(5) 447-456
- Foundation of the Newborn Screening Translational Research Network and its tools for research.
Lloyd-Puryear Michele et al. Genetics in medicine : official journal of the American College of Medical Genetics 2018 Nov
- Clinical whole-exome sequencing for the diagnosis of rare disorders with congenital anomalies and/or intellectual disability: substantial interest of prospective annual reanalysis.
Nambot Sophie et al. Genetics in medicine : official journal of the American College of Medical Genetics 2018 20(6) 645-654
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- State Public Health Genomics Programs (1)
- Epidemiologic Studies (107)
- Translation/Implementation Studies (78)
- Evidence Synthesis (14)
- Guidelines (8)
- Reviews/Commentaries (146)
- Tools/Methods (18)
- 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:Dec 10, 2018
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