Improved Diagnosis of Inherited Retinal Dystrophies by High-Fidelity PCR of ORF15 followed by Next-Generation Sequencing-Reference-Cited by-同舟云学术

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Improved Diagnosis of Inherited Retinal Dystrophies by High-Fidelity PCR of ORF15 followed by Next-Generation Sequencing

Published:2016-11 Issue:6 Volume:18 Page:817-824
ISSN:1525-1578
Container-title:The Journal of Molecular Diagnostics
language:en
Short-container-title:The Journal of Molecular Diagnostics

Author:

Li Jianli,Tang Jia,Feng Yanming,Xu Mingchu,Chen Rui,Zou Xuan,Sui Ruifang,Chang Emmanuel Y.,Lewis Richard A.,Zhang Victor W.,Wang Jing,Wong Lee-Jun C.

Funder

Baylor College of Medicine

Publisher

Elsevier BV

Subject

Molecular Medicine,Pathology and Forensic Medicine

Reference40 articles.

1. A gene (RPGR) with homology to the RCC1 guanine nucleotide exchange factor is mutated in X-linked retinitis pigmentosa (RP3);Meindl;Nat Genet,1996

2. Retinitis pigmentosa;Hartong;Lancet,2006

3. Mutational hot spot within a new RPGR exon in X-linked retinitis pigmentosa;Vervoort;Nat Genet,2000

4. Comprehensive survey of mutations in RP2 and RPGR in patients affected with distinct retinal dystrophies: genotype-phenotype correlations and impact on genetic counseling;Pelletier;Hum Mutat,2007

5. Mutations in RPGR and RP2 account for 15% of males with simplex retinal degenerative disease;Branham;Invest Ophthalmol Vis Sci,2012

Cited by 21 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. Validation of Nanopore long-read sequencing to resolve RPGR ORF15 genotypes in individuals with X-linked retinitis pigmentosa;European Journal of Human Genetics;2024-07-05

2. Clinical and analytical validation of an 82-gene comprehensive genome-profiling panel for identifying and interpreting variants responsible for inherited retinal dystrophies;PLOS ONE;2024-06-13

3. Molecular genetic diagnostics for inherited retinal dystrophies in the clinical setting;Canadian Journal of Ophthalmology;2023-09

4. Long-Read Nanopore Sequencing of RPGR ORF15 is Enhanced Following DNase I Treatment of MinION Flow Cells;Molecular Diagnosis & Therapy;2023-06-07

5. Prevalence of RPGR-Mediated Retinal Dystrophy in an Unselected Cohort of Over 5000 Patients;Translational Vision Science & Technology;2022-01-05

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