Next-generation sequencing (NGS) as a diagnostic tool for retinal degeneration reveals a much higher detection rate in early-onset disease-Reference-Cited by-同舟云学术

Next-generation sequencing (NGS) as a diagnostic tool for retinal degeneration reveals a much higher detection rate in early-onset disease

Published:2012-09-12 Issue:3 Volume:21 Page:274-280
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Shanks Morag E,Downes Susan M,Copley Richard R,Lise Stefano,Broxholme John,Hudspith Karl AZ,Kwasniewska Alexandra,Davies Wayne IL,Hankins Mark W,Packham Emily R,Clouston Penny,Seller Anneke,Wilkie Andrew OM,Taylor Jenny C,Ragoussis Jiannis,Németh Andrea H

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://www.nature.com/articles/ejhg2012172.pdf

Reference27 articles.

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3. Audo I, Bujakowska K, Leveillard T et al: Development and application of a next-generation-sequencing (NGS) approach to detect known and novel gene defects underlying retinal diseases. Orphanet J Rare Dis 2012; 7: 8.

4. Neveling K, Collin RW, Gilissen C et al: Next generation genetic testing for retinitis pigmentosa. Hum Mutat 2012; 33: 963–967.

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