Associated Papers
New genetic diagnoses for inherited retinal dystrophies by integrating splicing tools into NGS pipelines.
Fernández-Suárez E et al.
Npj Genomic Medicine, 2025
40603303 (PubMed )
Supplement: 41525_2025_500_MOESM2_ESM.xlsx › Supplementary_Data_1
The genetic etiology of hearing loss in Japan revealed by the social health insurance-based genetic testing of 10K patients.
Usami SI et al.
Human Genetics, 2022
34599366 (PubMed )
Supplement: 439_2021_2371_MOESM2_ESM.xlsx › SuppleTable2_20210811_final
A comprehensive WGS-based pipeline for the identification of new candidate genes in inherited retinal dystrophies.
González-Del Pozo M et al.
Npj Genomic Medicine, 2022
35246562 (PubMed )
Supplement: 41525_2022_286_MOESM1_ESM.pdf
Disease asymmetry and hyperautofluorescent ring shape in retinitis pigmentosa patients.
Jauregui R et al.
Scientific Reports, 2020
32098976 (PubMed )
Supplement: 41598_2020_60137_MOESM1_ESM.pdf
Unravelling the genetic basis of simplex Retinitis Pigmentosa cases.
Bravo-Gil N et al.
Scientific Reports, 2017
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