Associated Papers
Genetics, Clinical Characteristics, and Natural History of PDE6B-Associated Retinal Dystrophy.
Hashem SA et al.
American Journal of Ophthalmology, 2024
Panel-based genetic testing for inherited retinal disease screening 176 genes.
Sheck LHN et al.
Molecular Genetics & Genomic Medicine, 2021
33749171 (PubMed )
Supplement: MGG3-9-e1663-s001.xlsx › new
Molecular genetics of inherited retinal degenerations in Icelandic patients.
Thorsteinsson DA et al.
Clinical Genetics, 2021
Widefield Swept Source OCTA in Retinitis Pigmentosa.
Mastropasqua R et al.
Diagnostics (basel, Switzerland), 2020
Interpretation of mRNA splicing mutations in genetic disease: review of the literature and guidelines for information-theoretical analysis.
Caminsky N et al.
F1000research, 2014
25717368 (PubMed )
Supplement: f1000research-3-6038-s0000.tgz › e0d3facd-5877-477e-9217-8c5aa68746f2_Supplementary-Tables-11112014.zip › Supplementary-Tables-and-Figures-11112014 › Supplementary_Table_9._Validated_Variantsv2.xlsx › Supplementary_Table_9
Development of a diagnostic genetic test for simplex and autosomal recessive retinitis pigmentosa.
Clark GR et al.
Ophthalmology, 2010
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