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
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
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
Correction: Exome Sequencing of Index Patients with Retinal Dystrophies as a Tool for Molecular Diagnosis.
Corton M et al.
Plos One, 2016
Outcome of ABCA4 disease-associated alleles in autosomal recessive retinal dystrophies: retrospective analysis in 420 Spanish families.
Riveiro-Alvarez R et al.
Ophthalmology, 2013
Exome sequencing of index patients with retinal dystrophies as a tool for molecular diagnosis.
Corton M et al.
Plos One, 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