Last data update: Sep 23, 2020. (Total: 2948 publications since 2011)
|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
| 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
| 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
| Public Health and Rare Diseases: Oxymoron No More.
Rodolfo Valdez, Lijing Ouyang, and Julie Bolen
Preventing chronic disease 2016 Jan 13E05
| 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
| 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
| 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
| 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
| 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