Associated Papers
Genotype-Phenotype Correlations in ABCA4-Associated Retinopathy: Insights From a Spanish Cohort of 245 Patients.
Cobos E et al.
Investigative Ophthalmology & Visual Science, 2026
Personalised genomic strategies improve diagnostic yield in inherited retinal dystrophies: a stepwise, patient-centred approach.
Esteve-Garcia A et al.
Eye (london, England), 2025
Assessment of ABCA4 Genetic Variants: Current Landscape and Future Prospects.
Cevik S et al.
Advances in Experimental Medicine and Biology, 2025
A framework for individualized splice-switching oligonucleotide therapy.
Kim J et al.
Nature, 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
Impact of Next Generation Sequencing in Unraveling the Genetics of 1036 Spanish Families With Inherited Macular Dystrophies.
Del Pozo-Valero M et al.
Investigative Ophthalmology & Visual Science, 2022
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
Clinical and Genetic Spectrum of Stargardt Disease in Argentinean Patients.
Mena MD et al.
Frontiers in Genetics, 2021
Functional analysis and classification of homozygous and hypomorphic ABCA4 variants associated with Stargardt macular degeneration.
Curtis SB et al.
Human Mutation, 2020
Combined genetic and high-throughput strategies for molecular diagnosis of inherited retinal dystrophies.
de Castro-Miró M et al.
Plos One, 2014
Outcome of ABCA4 disease-associated alleles in autosomal recessive retinal dystrophies: retrospective analysis in 420 Spanish families.
Riveiro-Alvarez R et al.
Ophthalmology, 2013
Comparison of high-resolution melting analysis with denaturing high-performance liquid chromatography for mutation scanning in the ABCA4 gene.
Aguirre-Lamban J et al.
Investigative Ophthalmology & Visual Science, 2010
Novel human pathological mutations. Gene symbol: ABCA4. Disease: macular dystrophy.
Aguirre-Lamban J et al.
Human Genetics, 2009
Molecular analysis of the ABCA4 gene for reliable detection of allelic variations in Spanish patients: identification of 21 novel variants.
Aguirre-Lamban J et al.
The British Journal of Ophthalmology, 2009
Gene symbol: ABCA4. Disease: Macular dystrophy.
Aguirre-Lambán J et al.
Human Genetics, 2008
Gene symbol: ABCA4. Disease: Macular dystrophy.
Aguirre-Lamban J et al.
Human Genetics, 2008
Gene symbol: ABCA4. Disease: Macular dystrophy.
Aguirre-Lamban J et al.
Human Genetics, 2008
Gene symbol: ABCA4. Disease: Macular dystrophy.
Aguirre J et al.
Human Genetics, 2008
Gene symbol: ABCA4. Disease: Macular dystrophy.
Aguirre-Lamban J et al.
Human Genetics, 2008
Gene symbol: ABCA4. Disease: Macular dystrophy.
Aguirre-Lamban J et al.
Human Genetics, 2008
Gene symbol: ABCA4. Disease: Macular dystrophy.
Aguirre-Lambán J et al.
Human Genetics, 2008
Gene symbol: ABCA4. Disease: Macular dystrophy.
Aguirre-Lamban J et al.
Human Genetics, 2008
Gene symbol: ABCA4. Disease: Macular dystrophy.
Maia-Lopes S et al.
Human Genetics, 2008
Gene symbol: ABCA4. Disease: Macular dystrophy.
Maia-Lopes S et al.
Human Genetics, 2008