Progress and prospects of next-generation sequencing testing for inherited retinal dystrophy-Reference-Cited by-同舟云学术

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Progress and prospects of next-generation sequencing testing for inherited retinal dystrophy

Published:2015-08-24 Issue:10 Volume:15 Page:1269-1275
ISSN:1473-7159
Container-title:Expert Review of Molecular Diagnostics
language:en
Short-container-title:Expert Review of Molecular Diagnostics

Author:

Chiang John (Pei-Wen),Lamey Tina,McLaren Terri,Thompson Jennifer A,Montgomery Hannah,De Roach John

Publisher

Informa UK Limited

Subject

Genetics,Molecular Biology,Molecular Medicine,Pathology and Forensic Medicine

Link

http://www.tandfonline.com/doi/pdf/10.1586/14737159.2015.1081057

Reference31 articles.

1. Systemic Diseases Associated with Retinal Dystrophies

2. Visual Acuity Changes in Patients With Leber Congenital Amaurosis and Mutations in CEP290

3. Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome

4. Mutations in C5ORF42 Cause Joubert Syndrome in the French Canadian Population

5. 12q21 Microdeletion in a fetus with Meckel syndrome involving CEP290/MKS4

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