Associated Papers
Uncovering the genetic architecture of inherited retinal disease in a consanguineous Iranian cohort.
Vincke L et al.
Npj Genomic Medicine, 2025
Stargardt disease-associated in-frame ABCA4 exon 17 skipping results in significant ABCA4 function.
Kaltak M et al.
Journal of Translational Medicine, 2023
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
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
Multimodal analysis of the Preferred Retinal Location and the Transition Zone in patients with Stargardt Disease.
Verdina T et al.
Graefe's Archive for Clinical and Experimental Ophthalmology = Albrecht Von Graefes Archiv Fur Klinische Und Experimentelle Ophthalmologie, 2017
Flecks in Recessive Stargardt Disease: Short-Wavelength Autofluorescence, Near-Infrared Autofluorescence, and Optical Coherence Tomography.
Sparrow JR et al.
Investigative Ophthalmology & Visual Science, 2015
Quantitative Fundus Autofluorescence and Optical Coherence Tomography in PRPH2/RDS- and ABCA4-Associated Disease Exhibiting Phenotypic Overlap.
Duncker T et al.
Investigative Ophthalmology & Visual Science, 2015
Correlations among near-infrared and short-wavelength autofluorescence and spectral-domain optical coherence tomography in recessive Stargardt disease.
Duncker T et al.
Investigative Ophthalmology & Visual Science, 2014
Alternative splicing and retinal degeneration.
Liu MM et al.
Clinical Genetics, 2013
Functional Analysis of Retinal Flecks in Stargardt Disease.
Verdina T et al.
Journal of Clinical & Experimental Ophthalmology, 2012
Analysis of the ABCA4 gene by next-generation sequencing.
Zernant J et al.
Investigative Ophthalmology & Visual Science, 2011