Associated Papers
Spectrum of Genetic Variants in the Most Common Genes Causing Inherited Retinal Disease in a Large Molecularly Characterized United Kingdom Cohort.
Lin S et al.
Ophthalmology. Retina, 2024
38219857 (PubMed )
Supplement: mmc1.pdf
Prognostication in Stargardt Disease Using Fundus Autofluorescence: Improving Patient Care.
Daich Varela M et al.
Ophthalmology, 2023
37331482 (PubMed )
Supplement: mmc1.pdf
A Description of the Yield of Genetic Reinvestigation in Patients with Inherited Retinal Dystrophies and Previous Inconclusive Genetic Testing.
Areblom M et al.
Genes, 2023
Potential CRISPR Base Editing Therapeutic Options in a Sorsby Fundus Dystrophy Patient.
Elsayed MEAA et al.
Genes, 2022
Phenotyping of ABCA4 Retinopathy by Machine Learning Analysis of Full-Field Electroretinography.
Glinton SL et al.
Translational Vision Science & Technology, 2022
36178783 (PubMed )
Supplement: tvst-11-9-34_s002.pdf
A genotype-phenotype correlation matrix for ABCA4 disease based on long-term prognostic outcomes.
Lee W et al.
Jci Insight, 2022
34874912 (PubMed )
Supplement: jciinsight-7-156154-s173.xlsx › Sheet1
Clinical spectrum, genetic complexity and therapeutic approaches for retinal disease caused by ABCA4 mutations.
Cremers FPM et al.
Progress in Retinal and Eye Research, 2020
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