Scaling New Heights in the Genetic Diagnosis of Inherited Retinal Dystrophies

Author:

Gonzàlez-Duarte Roser,de Castro-Miró Marta,Tuson Miquel,Ramírez-Castañeda Valeria,Gils Rebeca Valero,Marfany Gemma

Publisher

Springer International Publishing

Reference21 articles.

1. Chen Y, Zhao L, Wang Y et al (2017) SeqCNV: a novel method for identification of copy number variations in targeted next-generation sequencing data. BMC Bioinf 18:147

2. Daiger SP, Bowne SJ, Sullivan LS et al (2018) Molecular findings in families with an initial diagnose of autosomal dominant retinitis pigmentosa (adRP). Springer, Cham, pp 237–245

3. de Castro-Miró M, Tonda R, Escudero-Ferruz P et al (2016) Novel candidate genes and a wide spectrum of structural and point mutations responsible for inherited retinal dystrophies revealed by exome sequencing. PLoS One 11:1–19

4. de Castro-Miró M, Tonda R, Marfany G et al (2018) Novel mutation in the choroideremia gene and multi-Mendelian phenotypes in Spanish families. Br J Ophthalmol 102:1378–1386. https://doi.org/10.1136/bjophthalmol-2017-311427

5. den Hollander AI, Koenekoop RK, Yzer S et al (2006) Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis. Am J Hum Genet 79:556–561

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