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Nat Genet. 2018 Apr;50(4):474-476. doi: 10.1038/s41588-018-0096-x.

Plain-language medical vocabulary for precision diagnosis.

Author information

1
Oregon Clinical & Translational Research Institute, Oregon Health & Science University, Portland, OR, USA.
2
Department of Medical Informatics and Clinical Epidemiology, Oregon Health & Science University, Portland, OR, USA.
3
School of Dentistry, Oregon Health & Science University, Portland, OR, USA.
4
School of Medicine, Indiana University School of Medicine, Indianapolis, IN, USA.
5
Jackson Laboratory for Genomic Medicine, Farmington, CT, USA.
6
Undiagnosed Disease Network, Boston, MA, USA.
7
School of Medicine, Vanderbilt University, Nashville, TN, USA.
8
Department of Health, Government of Western Australia, Perth, Western Australia, Australia.
9
National Center for Advancing Translational Sciences, Genetic and Rare Diseases Information Center, Bethesda, MD, USA.
10
Sanford Health Imagenetics, Sioux Falls, SD, USA.
11
Orphanet, Paris, France.
12
Genetic Alliance, Washington, DC, USA.
13
Genetic Alliance UK, London, UK.
14
Unique, Oxted, UK.
15
Medical School, University of Western Australia, Perth, Western Australia, Australia.
16
Inspire, Arlington, VA, USA.
17
National Organization for Rare Disorders, Quincy, MA, USA.
18
Department of Pediatrics, University of Washington, Seattle, WA, USA.
19
Kinghorn Centre for Clinical Genomics, Garvan Institute, Sydney, New South Wales, Australia.
20
Undiagnosed Disease Program, Bethesda, MD, USA.
21
Center for Data-Driven Discovery in Biomedicine, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
22
Lawrence Berkeley National Laboratory, Berkeley, CA, USA.
23
Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
24
NeuroCure Cluster of Excellence, Charité-Universitätsmedizin Berlin, Berlin, Germany.
25
Oregon Clinical & Translational Research Institute, Oregon Health & Science University, Portland, OR, USA. haendel@ohsu.edu.
26
Department of Medical Informatics and Clinical Epidemiology, Oregon Health & Science University, Portland, OR, USA. haendel@ohsu.edu.
27
Linus Pauling Institute, Oregon State University, Corvallis, OR, USA. haendel@ohsu.edu.
PMID:
29632381
PMCID:
PMC6258202
DOI:
10.1038/s41588-018-0096-x
[Indexed for MEDLINE]
Free PMC Article

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