Rare Diseases [NEW TOPIC PAGE]

CDC-Authored Genomics Publication Database|Home|PHGKB

Query Trace: Rare diseases[orginal query]
PhenX measures for phenotyping rare genetic conditions. Michael Phillips, Tracey Grant, Philip Giampietro, Joann Bodurtha, Rodolfo Valdez, Deborah R Maiese, Tabitha Hendershot, Sharon F Terry, and Carol M Hamilton Genetics in medicine : official journal of the American College of Medical Genetics 2017 Jan Similar articles in PubMed
The need for a next-generation public health response to rare diseases. Rodolfo Valdez, Scott D Grosse, and Muin J Khoury Genetics in medicine : official journal of the American College of Medical Genetics 2016 Oct Similar articles in PubMed
The health system impact of false positive newborn screening results for medium-chain acyl-CoA dehydrogenase deficiency: a cohort study. Maria D Karaceper, Pranesh Chakraborty, Doug Coyle, Kumanan Wilson, Jonathan B Kronick, Steven Hawken, Christine Davies, Marni Brownell, Linda Dodds, Annette Feigenbaum, Deshayne B Fell, Scott D Grosse, Astrid Guttmann, Anne-Marie Laberge, Aizeddin Mhanni, Fiona A Miller, John J Mitchell, Meranda Nakhla, Chitra Prasad, Cheryl Rockman-Greenberg, Rebecca Sparkes, Brenda J Wilson, Beth K Potter, and Orphanet journal of rare diseases 2016 Feb 1112 Similar articles in PubMed
Public Health and Rare Diseases: Oxymoron No More. Rodolfo Valdez, Lijing Ouyang, and Julie Bolen Preventing chronic disease 2016 Jan 13E05 Similar articles in PubMed
A statistical approach for rare-variant association testing in affected sibships. Michael P Epstein, Richard Duncan, Erin B Ware, Min A Jhun, Lawrence F Bielak, Wei Zhao, Jennifer A Smith, Patricia A Peyser, Sharon L R Kardia, and Glen A Satten Am. J. Hum. Genet. 2015 Apr 2. 96(4) 543-54 Similar articles in PubMed
Utilizing population controls in rare-variant case-parent association tests. Yu Jiang, Glen A Satten, Yujun Han, Michael P Epstein, Erin L Heinzen, David B Goldstein, and Andrew S Allen Am. J. Hum. Genet. 2014 Jun 5. 94(6) 845-53 Similar articles in PubMed
The use of US health insurance data for surveillance of rare disorders: hereditary hemorrhagic telangiectasia. Scott D Grosse, Sheree L Boulet, Althea M Grant, Mary M Hulihan, and Marie E Faughnan Genet. Med. 2014 Jan 16(1) 33-9 Similar articles in PubMed
A permutation procedure to correct for confounders in case-control studies, including tests of rare variation. Michael P Epstein, Richard Duncan, Yunxuan Jiang, Karen N Conneely, Andrew S Allen, and Glen A Satten Am. J. Hum. Genet. 2012 Aug 10. 91(2) 215-23 Similar articles in PubMed
A public health framework for rare blood disorders. Scott D Grosse, Andra H James, Michele A Lloyd-Puryear, and Hani K Atrash Am J Prev Med 2011 Dec 41(6 Suppl 4) S319-23 Similar articles in PubMed