scholarly journals Erratum: A dominant mutation in RPE65 identified by whole-exome sequencing causes retinitis pigmentosa with choroidal involvement

2011 ◽  
Vol 19 (10) ◽  
pp. 1109-1109
Author(s):  
Sara J Bowne ◽  
Marian M Humphries ◽  
Lori S Sullivan ◽  
Paul F Kenna ◽  
Lawrence CS Tam ◽  
...  
Keyword(s):  
Retinitis Pigmentosa ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Dominant Mutation ◽  
Whole Exome

scholarly journals A dominant mutation in RPE65 identified by whole-exome sequencing causes retinitis pigmentosa with choroidal involvement

2011 ◽  
Vol 19 (10) ◽  
pp. 1074-1081 ◽  
Author(s):  
Sara J Bowne ◽  
Marian M Humphries ◽  
Lori S Sullivan ◽  
Paul F Kenna ◽  
Lawrence C S Tam ◽  
...  
Keyword(s):  
Retinitis Pigmentosa ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Dominant Mutation ◽  
Whole Exome

scholarly journals Whole-exome sequencing reveals POC5 as a novel gene associated with autosomal recessive retinitis pigmentosa

2017 ◽  
Vol 27 (4) ◽  
pp. 614-624 ◽  
Author(s):  
Monika Weisz Hubshman ◽  
Sanne Broekman ◽  
Erwin van Wijk ◽  
Frans Cremers ◽  
Alaa Abu-Diab ◽  
...  
Keyword(s):  
Retinitis Pigmentosa ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Autosomal Recessive ◽  
Novel Gene ◽  
Whole Exome

scholarly journals Whole-Exome Sequencing Links a Variant in DHDDS to Retinitis Pigmentosa

2011 ◽  
Vol 88 (2) ◽  
pp. 201-206 ◽  
Author(s):  
Stephan Züchner ◽  
Julia Dallman ◽  
Rong Wen ◽  
Gary Beecham ◽  
Adam Naj ◽  
...  
Keyword(s):  
Retinitis Pigmentosa ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Whole Exome

scholarly journals Whole Exome Sequencing Reveals Genetic Predisposition in a Large Family with Retinitis Pigmentosa

2014 ◽  
Vol 2014 ◽  
pp. 1-6 ◽  
Author(s):  
Juan Wu ◽  
Lijia Chen ◽  
Oi Sin Tam ◽  
Xiu-Feng Huang ◽  
Chi-Pui Pang ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Retinitis Pigmentosa ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Direct Sequencing ◽  
Genetic Defect ◽  
Chinese Family ◽  
Next Generation ◽  
Whole Exome ◽  
Generation Sequencing

Next-generation sequencing has become more widely used to reveal genetic defect in monogenic disorders. Retinitis pigmentosa (RP), the leading cause of hereditary blindness worldwide, has been attributed to more than 67 disease-causing genes. Due to the extreme genetic heterogeneity, using general molecular screening alone is inadequate for identifying genetic predispositions in susceptible individuals. In order to identify underlying mutation rapidly, we utilized next-generation sequencing in a four-generation Chinese family with RP. Two affected patients and an unaffected sibling were subjected to whole exome sequencing. Through bioinformatics analysis and direct sequencing confirmation, we identified p.R135W transition in the rhodopsin gene. The mutation was subsequently confirmed to cosegregate with the disease in the family. In this study, our results suggest that whole exome sequencing is a robust method in diagnosing familial hereditary disease.

scholarly journals Whole-Exome Sequencing Identifies Biallelic IDH3A Variants as a Cause of Retinitis Pigmentosa Accompanied by Pseudocoloboma

Ophthalmology ◽  
2017 ◽  
Vol 124 (7) ◽  
pp. 992-1003 ◽  
Author(s):  
Laurence H.M. Pierrache ◽  
Adva Kimchi ◽  
Rinki Ratnapriya ◽  
Lisa Roberts ◽  
Galuh D.N. Astuti ◽  
...  
Keyword(s):  
Retinitis Pigmentosa ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Whole Exome

Whole Exome Sequencing in Thai Patients With Retinitis Pigmentosa Reveals Novel Mutations in Six Genes

2014 ◽  
Vol 55 (4) ◽  
pp. 2259 ◽  
Author(s):  
Worapoj Jinda ◽  
Todd D. Taylor ◽  
Yutaka Suzuki ◽  
Wanna Thongnoppakhun ◽  
Chanin Limwongse ◽  
...  
Keyword(s):  
Retinitis Pigmentosa ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Novel Mutations ◽  
Whole Exome ◽  
Six Genes
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