Associated Papers
GENETIC FACTORS AND CHARACTERISTICS ON SPECTRAL-DOMAIN OPTICAL COHERENCE TOMOGRAPHY ARE ASSOCIATED WITH CHOROIDAL THICKNESS IN ABCA4 -RELATED RETINOPATHY.
Wang Y et al.
Retina (philadelphia, Pa.), 2024
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 › S9_PS1_PM5.xlsx › Missense
Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.
Pejaver V et al.
American Journal of Human Genetics, 2022
36413997 (PubMed )
Supplement: mmc2.xlsx › mmc2
Whole-exome sequencing in 168 Korean patients with inherited retinal degeneration.
Ma DJ et al.
Bmc Medical Genomics, 2021
33691693 (PubMed )
Supplement: 12920_2021_874_MOESM2_ESM.xlsx › Sheet1
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
Clinical and genetic characteristics of Stargardt disease in a large Western China cohort: Report 1.
Liu X et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2020
Clinical and Genetic Characteristics Analysis of Korean Patients with Stargardt Disease Using Targeted Exome Sequencing.
Sung Y et al.
Ophthalmologica. Journal International D'ophtalmologie. International Journal of Ophthalmology. Zeitschrift Fur Augenheilkunde, 2019
Novel compound heterozygous mutations in ABCA4 in a Chinese pedigree with Stargardt disease.
Zhang J et al.
Molecular Vision, 2016
Identification of Genetic Defects in 33 Probands with Stargardt Disease by WES-Based Bioinformatics Gene Panel Analysis.
Xin W et al.
Plos One, 2015
26161775 (PubMed )
Supplement: pone.0132635.s004.xlsx › Sheet1
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