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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
40225145 (PubMed )
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Genotype-Specific Lesion Growth Rates in Stargardt Disease.
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Genes, 2021
34946930 (PubMed )
Supplement: genes-12-01981-s001.zip › genes-1479134-supplementary.pdf
Deciphering the genetic architecture and ethnographic distribution of IRD in three ethnic populations by whole genome sequence analysis.
Biswas P et al.
Plos Genetics, 2021
Atrophy Expansion Rates in Stargardt Disease Using Ultra-Widefield Fundus Autofluorescence.
Heath Jeffery RC et al.
Ophthalmology Science, 2021
36246008 (PubMed )
Supplement: mmc2.pdf
A novel statistical method for interpreting the pathogenicity of rare variants.
Wang J et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
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Supplement: NIHMS1630822-supplement-Supplementary_Tables.xlsx › S6_ABCA4_variants
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