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Clinical and analytical validation of an 82-gene comprehensive genome-profiling panel for identifying and interpreting variants responsible for inherited retinal dystrophies

• Authors : Chan, Jacqueline; Holdstock, Jolyon; Shovelton, John ...

• Source: PLOS ONE ; volume 19, issue 6, page e0305422 ; ISSN 1932-6203

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Novel Candidate Genes and a Wide Spectrum of Structural and Point Mutations Responsible for Inherited Retinal Dystrophies Revealed by Exome Sequencing

• Authors : de Castro-Miró, Marta; Tonda, Raul; Escudero-Ferruz, Paula ...

• Source: PLOS ONE ; volume 11, issue 12, page e0168966 ; ISSN 1932-6203

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Identification of Novel and Recurrent Disease-Causing Mutations in Retinal Dystrophies Using Whole Exome Sequencing (WES): Benefits and Limitations

• Authors : Tiwari, Amit; Lemke, Johannes; Altmueller, Janine ...

• Source: PLOS ONE ; volume 11, issue 7, page e0158692 ; ISSN 1932-6203

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Mutation Detection in Patients with Retinal Dystrophies Using Targeted Next Generation Sequencing

• Authors : Weisschuh, Nicole; Mayer, Anja K.; Strom, Tim M. ...

• Source: PLOS ONE ; volume 11, issue 1, page e0145951 ; ISSN 1932-6203

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Correction: Exome Sequencing of Index Patients with Retinal Dystrophies as a Tool for Molecular Diagnosis

• Authors : Corton, Marta; Nishiguchi, Koji M.; Avila-Fernández, Almudena

• Source: PLOS ONE ; volume 11, issue 3, page e0153121 ; ISSN 1932-6203

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Correction: Exome Sequencing Reveals Novel and Recurrent Mutations with Clinical Significance in Inherited Retinal Dystrophies

• Source: PLOS ONE ; volume 10, issue 3, page e0120166 ; ISSN 1932-6203

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Combined Genetic and High-Throughput Strategies for Molecular Diagnosis of Inherited Retinal Dystrophies

• Authors : de Castro-Miró, Marta; Pomares, Esther; Lorés-Motta, Laura ...

• Source: PLoS ONE ; volume 9, issue 2, page e88410 ; ISSN 1932-6203

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Correction: Increasing The Yield In Targeted Next-Generation Sequencing By Implicating Cnv Analysis, Non-Coding Exons And The Overall Variant Load: The Example Of Retinal Dystrophies

• Source: PLoS ONE ; volume 9, issue 11, page e108840 ; ISSN 1932-6203

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Exome Sequencing Reveals Novel and Recurrent Mutations with Clinical Significance in Inherited Retinal Dystrophies

• Authors : Pozo, María González-del; Méndez-Vidal, Cristina; Bravo-Gil, Nereida ...

• Source: PLoS ONE ; volume 9, issue 12, page e116176 ; ISSN 1932-6203

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Correction: Combined Genetic and High-Throughput Strategies for Molecular Diagnosis of Inherited Retinal Dystrophies

• Source: PLoS ONE ; volume 9, issue 6, page e101641 ; ISSN 1932-6203

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