Associated Papers
Characterization of the Subclinical Perilesional Zone in the Macula of Early-Stage ABCA4 Disease.
Zee A et al.
Translational Vision Science & Technology, 2025
Stargardt Disease: Clinical Features and Genotypes in an Indian Cohort.
Rao MK et al.
Clinical Genetics, 2025
A Tiered Approach to Exome Sequencing Analysis in Early-Onset Primary Ovarian Insufficiency.
McGlacken-Byrne SM et al.
The Journal of Clinical Endocrinology and Metabolism, 2025
A 15 bp non-canonical splice-site deletion in ABCA4 linked with retinitis pigmentosa and myopia: insights into splicing defects and phenotypic variability.
Vanita V et al.
Molecular Biology Reports, 2025
Expansion of the ABCA4-Associated Retinopathy Spectrum: Severe Variants Can be Associated With Early-Onset Severe Retinal Dystrophy.
Panneman DM et al.
Investigative Ophthalmology & Visual Science, 2025
Characterization of the Subclinical Perilesional Zone in the Macula of Early-Stage ABCA4 Disease.
Zee A et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes.
Hitti-Malin RJ et al.
Biomolecules, 2024
Targeted sequencing and in vitro splice assays shed light on ABCA4-associated retinopathies missing heritability.
Corradi Z et al.
Hgg Advances, 2023
Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis.
Panneman DM et al.
Frontiers in Cell and Developmental Biology, 2023
ABCA4 c.6480-35A>G, a novel branchpoint variant associated with Stargardt disease.
Rodríguez-Hidalgo M et al.
Frontiers in Genetics, 2023
Benchmarking deep learning splice prediction tools using functional splice assays.
Riepe TV et al.
Human Mutation, 2021
Association of Sex With Frequent and Mild ABCA4 Alleles in Stargardt Disease.
Runhart EH et al.
Jama Ophthalmology, 2020
The genetic landscape of inherited eye disorders in 74 consecutive families from the United Arab Emirates.
Méjécase C et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2020
Progressive Choriocapillaris Impairment in ABCA4 Maculopathy Is Secondary to Retinal Pigment Epithelium Atrophy.
Jauregui R et al.
Investigative Ophthalmology & Visual Science, 2020
Prospective Cohort Study of Childhood-Onset Stargardt Disease: Fundus Autofluorescence Imaging, Progression, Comparison with Adult-Onset Disease, and Disease Symmetry.
Georgiou M et al.
American Journal of Ophthalmology, 2020
ABCA4 midigenes reveal the full splice spectrum of all reported noncanonical splice site variants in Stargardt disease.
Sangermano R et al.
Genome Research, 2018