Lessons learned from additional research analyses of unsolved clinical exome cases-Reference-Cited by-同舟云学术

Lessons learned from additional research analyses of unsolved clinical exome cases

Published:2017-03-21 Issue:1 Volume:9 Page:
ISSN:1756-994X
Container-title:Genome Medicine
language:en
Short-container-title:Genome Med

Author:

Eldomery Mohammad K.,Coban-Akdemir Zeynep,Harel Tamar,Rosenfeld Jill A.,Gambin Tomasz,Stray-Pedersen Asbjørg,Küry Sébastien,Mercier Sandra,Lessel Davor,Denecke Jonas,Wiszniewski Wojciech,Penney Samantha,Liu Pengfei,Bi Weimin,Lalani Seema R.,Schaaf Christian P.,Wangler Michael F.,Bacino Carlos A.,Lewis Richard Alan,Potocki Lorraine,Graham Brett H.,Belmont John W.,Scaglia Fernando,Orange Jordan S.,Jhangiani Shalini N.,Chiang Theodore,Doddapaneni Harsha,Hu Jianhong,Muzny Donna M.,Xia Fan,Beaudet Arthur L.,Boerwinkle Eric,Eng Christine M.,Plon Sharon E.,Sutton V. Reid,Gibbs Richard A.,Posey Jennifer E.,Yang Yaping,Lupski James R.

Funder

National Human Genome Research Institute

National Institutes of Health

Genetics Resource Association of Texas

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics,Molecular Biology,Molecular Medicine

Link

http://link.springer.com/content/pdf/10.1186/s13073-017-0412-6.pdf

Reference108 articles.

1. Lupski JR, Reid JG, Gonzaga-Jauregui C, Rio Deiros D, Chen DC, Nazareth L, et al. Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy. N Engl J Med. 2010;362(13):1181–91.