A new approach based on targeted pooled DNA sequencing identifies novel mutations in patients with Inherited Retinal Dystrophies-Reference-Cited by-同舟云学术

A new approach based on targeted pooled DNA sequencing identifies novel mutations in patients with Inherited Retinal Dystrophies

Published:2018-10-18 Issue:1 Volume:8 Page:
ISSN:2045-2322
Container-title:Scientific Reports
language:en
Short-container-title:Sci Rep

Author:

Ezquerra-Inchausti Maitane,Anasagasti Ander,Barandika Olatz,Garay-Aramburu Gonzaga,Galdós Marta,López de Munain Adolfo,Irigoyen Cristina,Ruiz-Ederra Javier^ORCID

Publisher

Springer Science and Business Media LLC

Subject

Multidisciplinary

Link

http://www.nature.com/articles/s41598-018-33810-3.pdf

Reference89 articles.

1. Van Cauwenbergh, C. et al. arrEYE: a customized platform for high-resolution copy number analysis of coding and noncoding regions of known and candidate retinal dystrophy genes and retinal noncoding RNAs. Genetics in medicine: official journal of the American College of Medical Genetics 19, 457–466, https://doi.org/10.1038/gim.2016.119 (2017).

2. Sohocki, M. M. et al. Prevalence of AIPL1 mutations in inherited retinal degenerative disease. Mol Genet Metab 70, 142–150, https://doi.org/10.1006/mgme.2000.3001S1096-7192(00)93001-4 (2000).

3. Lander, E. S. et al. Initial sequencing and analysis of the human genome. Nature 409, 860–921, https://doi.org/10.1038/35057062 (2001).

4. Venter, J. C. et al. The sequence of the human genome. Science 291, 1304–1351, https://doi.org/10.1126/science.1058040 (2001).

5. Ferrari, S. et al. Retinitis pigmentosa: genes and disease mechanisms. Curr Genomics 12, 238–249, https://doi.org/10.2174/138920211795860107CG-12-238 (2011).

Cited by 18 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. ABCA4 c.6480-35A>G, a novel branchpoint variant associated with Stargardt disease;Frontiers in Genetics;2023-09-07

2. Metallothioneins, a Part of the Retinal Endogenous Protective System in Various Ocular Diseases;Antioxidants;2023-06-10

3. Identification of RP1 as the genetic cause of retinitis pigmentosa in a multi-generational pedigree using Extremely Low-Coverage Whole Genome Sequencing (XLC-WGS);Gene;2023-01

4. Screening of candidate genes at GLC3B and GLC3C loci in Chinese primary congenital glaucoma patients with targeted next generation sequencing;Ophthalmic Genetics;2022-10-03

5. Panel‐based next‐generation sequencing identifies novel mutations in Bulgarian patients with inherited retinal dystrophies;Molecular Genetics & Genomic Medicine;2022-06-03