Associated Papers
Diagnostic yield of panel-based genetic testing in syndromic inherited retinal disease.
Jiman OA et al.
European Journal of Human Genetics : Ejhg, 2020
31836858 (PubMed )
Supplement: 41431_2019_548_MOESM1_ESM.docx
Improving the management of Inherited Retinal Dystrophies by targeted sequencing of a population-specific gene panel.
Bravo-Gil N et al.
Scientific Reports, 2016
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.
Eisenberger T et al.
Plos One, 2013
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