Associated Papers
Targeted sequencing and in vitro splice assays shed light on ABCA4-associated retinopathies missing heritability.
Corradi Z et al.
Hgg Advances, 2023
37705246 (PubMed )
Supplement: mmc9.xlsx › Table_S11
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
Highly Variable Disease Courses in Siblings with Stargardt Disease.
Valkenburg D et al.
Ophthalmology, 2019
ABCA4-associated disease as a model for missing heritability in autosomal recessive disorders: novel noncoding splice, cis-regulatory, structural, and recurrent hypomorphic variants.
Bauwens M et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
Heterozygous deep-intronic variants and deletions in ABCA4 in persons with retinal dystrophies and one exonic ABCA4 variant.
Bax NM et al.
Human Mutation, 2015
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