Associated Papers
Quantifying the Progression of Stargardt Disease in Double-Null ABCA4 Carriers Using Fundus Autofluorescence Imaging.
Mihalek I et al.
Translational Vision Science & Technology, 2025
40094701 (PubMed )
Supplement: tvst-14-3-16_s002.xlsx › Sheet1
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
Photoreceptor cells as a source of fundus autofluorescence in recessive Stargardt disease.
Paavo M et al.
Journal of Neuroscience Research, 2019
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
Quantitative fundus autofluorescence in recessive Stargardt disease.
Burke TR et al.
Investigative Ophthalmology & Visual Science, 2014
Denaturing HPLC profiling of the ABCA4 gene for reliable detection of allelic variations.
Stenirri S et al.
Clinical Chemistry, 2004
Denaturing HPLC analysis of DNA deletions and insertions.
Cremonesi L et al.
Human Mutation, 2003
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