Associated Papers
Spectrum of Genetic Variants in the Most Common Genes Causing Inherited Retinal Disease in a Large Molecularly Characterized United Kingdom Cohort.
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Ophthalmology. Retina, 2024
38219857 (PubMed )
Supplement: mmc1.pdf
Compendium of Clinical Variant Classification for 2,246 Unique ABCA4 Variants to Clarify Variant Pathogenicity in Stargardt Disease Using a Modified ACMG/AMP Framework.
Cornelis SS et al.
Human Mutation, 2023
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Supplement: 6815504.f1.zip › S2_PVS1.xlsx › Nonsense_or_Frameshift
Phenotyping of ABCA4 Retinopathy by Machine Learning Analysis of Full-Field Electroretinography.
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Translational Vision Science & Technology, 2022
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Supplement: tvst-11-9-34_s002.pdf
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