- PhenX measures for phenotyping rare genetic conditions.
Phillips Michael et al. Genetics in medicine : official journal of the American College of Medical Genetics 2017 Jan
- The need for a next-generation public health response to rare diseases.
Valdez Rodolfo et al. Genetics in medicine : official journal of the American College of Medical Genetics 2016 Oct
- 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
- Public Health and Rare Diseases: Oxymoron No More.
Valdez Rodolfo et al. Preventing chronic disease 2016 Jan 13E05
- A statistical approach for rare-variant association testing in affected sibships.
Epstein Michael P et al. Am. J. Hum. Genet. 2015 Apr 2. 96(4) 543-54
- Utilizing population controls in rare-variant case-parent association tests.
Jiang Yu et al. Am. J. Hum. Genet. 2014 Jun 5. 94(6) 845-53
- The use of US health insurance data for surveillance of rare disorders: hereditary hemorrhagic telangiectasia.
Grosse Scott D et al. Genet. Med. 2014 Jan 16(1) 33-9
- A permutation procedure to correct for confounders in case-control studies, including tests of rare variation.
Epstein Michael P et al. Am. J. Hum. Genet. 2012 Aug 10. 91(2) 215-23
- A public health framework for rare blood disorders.
Grosse Scott D et al. Am J Prev Med 2011 Dec 41(6 Suppl 4) S319-23
domingo, 6 de enero de 2019
Rare Diseases [NEW TOPIC PAGE]
From CDC-Authored Genomics Publication Database
This database contains CDC-authored publications in public health genomics including infectious diseases, newborn screening, reproductive health, genetic testing, cancer, chronic diseases, birth defects and developmental disabilities, environmental and occupational health as well as laboratory, bioinformatics and statistical methods.