Associated Papers
18-Years of single-centre DNA testing in over 7000 index cases with inherited retinal dystrophies and optic neuropathies.
Kiel C et al.
Scientific Reports, 2024
39462066 (PubMed )
Supplement: 41598_2024_77014_MOESM2_ESM.xlsx › solved_patients
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
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 )
Supplement: 6815504.f1.zip › S1_ACMG_Categorisation.xlsx › Overview_S1
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
Evaluation of Local Rod and Cone Function in Stargardt Disease.
Stingl K et al.
Investigative Ophthalmology & Visual Science, 2022
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
32884132 (PubMed )
Supplement: NIHMS1630822-supplement-Supplementary_Tables.xlsx › S6_ABCA4_variants
Prediction of Function in ABCA4-Related Retinopathy Using Ensemble Machine Learning.
Müller PL et al.
Journal of Clinical Medicine, 2020
32751377 (PubMed )
Supplement: jcm-09-02428-s001.zip › Supplementary_Table_S1_New.pdf
Clinical and genetic findings in Hungarian patients with X-linked juvenile retinoschisis.
Lesch B et al.
Molecular Vision, 2008
Correlation of clinical and genetic findings in Hungarian patients with Stargardt disease.
Hargitai J et al.
Investigative Ophthalmology & Visual Science, 2005
The 2588G-->C mutation in the ABCR gene is a mild frequent founder mutation in the Western European population and allows the classification of ABCR mutations in patients with Stargardt disease.
Maugeri A et al.
American Journal of Human Genetics, 1999
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