Whole-exome sequencing in intellectual disability; cost before and after a diagnosis-Reference-Cited by-同舟云学术

Whole-exome sequencing in intellectual disability; cost before and after a diagnosis

Published:2018-06-29 Issue:11 Volume:26 Page:1566-1571
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Vrijenhoek Terry,Middelburg Eline M.,Monroe Glen R.^ORCID,van Gassen Koen L. I.,Geenen Joost W.,Hövels Anke M.,Knoers Nine V.,van Amstel Hans Kristian Ploos,Frederix Gerardus W. J.

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://www.nature.com/articles/s41431-018-0203-6.pdf

Reference25 articles.

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2. Lee H, Deignan JL, Dorrani N, et al. Clinical exome sequencing for genetic identification of rare Mendelian disorders. JAMA. 2014;312:1880–7.

3. Srivastava S, Cohen JS, Vernon H, et al. Clinical whole exome sequencing in child neurology practice. Ann Neurol. 2014;76:473–83.

4. Dillon OJ, Lunke S, Stark Z, et al. Exome sequencing has higher diagnostic yield compared to simulated disease-specific panels in children with suspected monogenic disorders. Eur J Hum Genet. 2018;26:644–51.

5. Farwell KD, Shahmirzadi L, El-Khechen D, et al. Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis: results from 500 unselected families with undiagnosed genetic conditions. Genet Med. 2015;17:578–86.

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