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
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: mmc10.xlsx › Table_S12
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
The Scope of Pathogenic ABCA4 Mutations Targetable by CRISPR DNA Base Editing Systems-A Systematic Review.
Piotter E et al.
Frontiers in Genetics, 2021
35154257 (PubMed )
Supplement: DataSheet1.xlsx › 5._Gnomad-all_variants
Distinct genomic profiles of gestational choriocarcinoma, a unique cancer of pregnant tissues.
Jung SH et al.
Experimental & Molecular Medicine, 2020
33319857 (PubMed )
Supplement: 12276_2020_544_MOESM1_ESM.pdf
Dual Regulatory Mechanisms of Expression and Mutation Involving Metabolism-Related Genes FDFT1 and UQCR5 during CLM.
Ma YS et al.
Molecular Therapy Oncolytics, 2019
31236441 (PubMed )
Supplement: mmc1.pdf
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