Exome Sequencing of Index Patients with Retinal Dystrophies as a Tool for Molecular Diagnosis-Reference-Cited by-同舟云学术

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Exome Sequencing of Index Patients with Retinal Dystrophies as a Tool for Molecular Diagnosis

Published:2013-06-14 Issue:6 Volume:8 Page:e65574
ISSN:1932-6203
Container-title:PLoS ONE
language:en
Short-container-title:PLoS ONE

Author:

Corton Marta,Nishiguchi Koji M.,Avila-Fernández Almudena,Nikopoulos Konstantinos,Riveiro-Alvarez Rosa,Tatu Sorina D.,Ayuso Carmen,Rivolta Carlo

Publisher

Public Library of Science (PLoS)

Subject

Multidisciplinary

Reference47 articles.

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2. Retinitis pigmentosa and allied conditions today: a paradigm of translational research;C Ayuso;Genome Med,2010

3. Genes associated with retinitis pigmentosa and allied diseases are frequently mutated in the general population;KM Nishiguchi;PLoS One,2012

4. Clark GR, Crowe P, Muszynska D, O’Prey D, O’Neill J, et al.. (2010) Development of a diagnostic genetic test for simplex and autosomal recessive retinitis pigmentosa. Ophthalmology 117: 2169–2177 e2163.

5. Genotyping microarray (disease chip) for Leber congenital amaurosis: detection of modifier alleles;J Zernant;Invest Ophthalmol Vis Sci,2005

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