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Targeted leukodystrophy diagnosis based on charges and yields for testing

  • Published:2015-07-16 Issue:11 Volume:167 Page:2541-2543
  • ISSN:1552-4825
  • Container-title:American Journal of Medical Genetics Part A
  • language:en
  • Short-container-title:Am. J. Med. Genet.

Author:

Richards Jackson1,Korgenski E. Kent2,Taft Ryan J.3,Vanderver Adeline4,Bonkowsky Joshua L.5

Affiliation:

1. University of Utah School of Medicine; Salt Lake City; Utah

2. Intermountain Healthcare; Salt Lake City; Utah

3. Illumina, Inc.; San Diego CA

4. Center for Genetic Medicine Research; Children's National Health System; Washington, DC

5. Division of Pediatric Neurology; Department of Pediatrics, University of Utah School of Medicine, Salt Lake City; Utah

Funder

National Institutes of Health

PCORI ALD Connect

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference7 articles.

1. http://www.ambrygen.com/exomenext 2015

2. The burden of inherited leukodystrophies in children;Bonkowsky;Neurology,2010

3. Determinants of health care use in a population-based leukodystrophy cohort;Nelson;J Pediatr,2013

4. Effectiveness of exome and genome sequencing guided by acuity of illness for diagnosis of neurodevelopmental disorders;Soden;Sci Transl Med,2014
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