Associated Papers
Screening of Inherited Retinal Disease Patients in a Low-Resource Setting Using an Augmented Next-Generation Sequencing Panel.
Midgley N et al.
Molecular Genetics & Genomic Medicine, 2024
39676705 (PubMed )
Supplement: MGG3-12-e70046-s001.xlsx › Supplementary_Table_3
Clinician-Driven Reanalysis of Exome Sequencing Data From Patients With Inherited Retinal Diseases.
Surl D et al.
Jama Network Open, 2024
38819824 (PubMed )
Supplement: jamanetwopen-e2414198-s001.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
Novel mutations in the 3-box motif of the BACK domain of KLHL7 associated with nonsyndromic autosomal dominant retinitis pigmentosa.
Oh JK et al.
Orphanet Journal of Rare Diseases, 2019
Multimodal structural disease progression of retinitis pigmentosa according to mode of inheritance.
Jauregui R et al.
Scientific Reports, 2019
31341231 (PubMed )
Supplement: 41598_2019_47251_MOESM1_ESM.pdf
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