Whole Genome Sequencing Increases Molecular Diagnostic Yield Compared with Current Diagnostic Testing for Inherited Retinal Disease-Reference-Cited by-同舟云学术

Whole Genome Sequencing Increases Molecular Diagnostic Yield Compared with Current Diagnostic Testing for Inherited Retinal Disease

Published:2016-05 Issue:5 Volume:123 Page:1143-1150
ISSN:0161-6420
Container-title:Ophthalmology
language:en
Short-container-title:Ophthalmology

Author:

Ellingford Jamie M.,Barton Stephanie,Bhaskar Sanjeev,Williams Simon G.,Sergouniotis Panagiotis I.,O'Sullivan James,Lamb Janine A.,Perveen Rahat,Hall Georgina,Newman William G.,Bishop Paul N.,Roberts Stephen A.,Leach Rick,Tearle Rick,Bayliss Stuart,Ramsden Simon C.,Nemeth Andrea H.,Black Graeme C.M.

Publisher

Elsevier BV

Subject

Ophthalmology

Reference30 articles.

1. Pinpointing clinical diagnosis through whole exome sequencing to direct patient care: a case of Senior-Loken syndrome;Ellingford;Lancet,2015

2. The molecular basis of human retinal and vitreoretinal diseases;Berger;Prog Retin Eye Res,2010

3. Applications of next-generation sequencing sequencing technologies - the next generation;Metzker;Nat Rev Genet,2010

4. Exome sequencing as a tool for Mendelian disease gene discovery;Bamshad;Nat Rev Genet,2011

5. A paradigm shift in the delivery of services for diagnosis of inherited retinal disease;O’Sullivan;J Med Genet,2012

Cited by 123 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. Clinical and Genetic Findings in a Cohort of Patients with PRPF31-Associated Retinal Dystrophy;American Journal of Ophthalmology;2024-11

2. Whole genome sequencing identifies elusive variants in genetically unsolved Italian inherited retinal disease patients;Human Genetics and Genomics Advances;2024-07

3. Limited Added Diagnostic Value of Whole Genome Sequencing in Genetic Testing of Inherited Retinal Diseases in a Swiss Patient Cohort;International Journal of Molecular Sciences;2024-06-13

4. Autozygome‐guided exome‐first study in a consanguineous cohort with early‐onset retinal disease uncovers an isolated RIMS2 phenotype and a retina‐enriched RIMS2 isoform;Clinical Genetics;2024-03-11

5. Comparative analysis of in-silico tools in identifying pathogenic variants in dominant inherited retinal diseases;Human Molecular Genetics;2024-03-07