Associated Papers
Nonsyndromic Retinitis Pigmentosa With Pathogenic CEP290 Mutations.
Kikani BA et al.
Ophthalmic Surgery, Lasers & Imaging Retina, 2025
Genetic testing results of retinal dystrophies in a diverse population: impact of race and ethnicity.
Miller C et al.
Ophthalmic Genetics, 2025
39763302 (PubMed )
Supplement: supplement_1.xlsx › Supplementary_Table_2
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
Novel mutations in PDE6A and CDHR1 cause retinitis pigmentosa in Pakistani families.
Dawood M et al.
International Journal of Ophthalmology, 2021
A new approach based on targeted pooled DNA sequencing identifies novel mutations in patients with Inherited Retinal Dystrophies.
Ezquerra-Inchausti M et al.
Scientific Reports, 2018
30337596 (PubMed )
Supplement: 41598_2018_33810_MOESM1_ESM.pdf
Sacral agenesis: a pilot whole exome sequencing and copy number study.
Porsch RM et al.
Bmc Medical Genetics, 2016
28007035 (PubMed )
Supplement: 12881_2016_359_MOESM2_ESM.xlsx › all_variants
Molecular findings from 537 individuals with inherited retinal disease.
Ellingford JM et al.
Journal of Medical Genetics, 2016
27208204 (PubMed )
Supplement: jmedgenet-2016-103837supp_tables.pdf
Genetic high throughput screening in Retinitis Pigmentosa based on high resolution melting (HRM) analysis.
Anasagasti A et al.
Experimental Eye Research, 2013
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