Associated Papers
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
Analysis of clinically relevant variants from ancestrally diverse Asian genomes.
Chan SH et al.
Nature Communications, 2022
A comprehensive WGS-based pipeline for the identification of new candidate genes in inherited retinal dystrophies.
González-Del Pozo M et al.
Npj Genomic Medicine, 2022
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
The Scope of Pathogenic ABCA4 Mutations Targetable by CRISPR DNA Base Editing Systems-A Systematic Review.
Piotter E et al.
Frontiers in Genetics, 2021
A Multi-Strategy Sequencing Workflow in Inherited Retinal Dystrophies: Routine Diagnosis, Addressing Unsolved Cases and Candidate Genes Identification.
Martín-Sánchez M et al.
International Journal of Molecular Sciences, 2020
Outcome of ABCA4 disease-associated alleles in autosomal recessive retinal dystrophies: retrospective analysis in 420 Spanish families.
Riveiro-Alvarez R et al.
Ophthalmology, 2013
Analysis of autofluorescent retinal images and measurement of atrophic lesion growth in Stargardt disease.
Chen B et al.
Experimental Eye Research, 2010
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
ABCA4 gene analysis in patients with autosomal recessive cone and cone rod dystrophies.
Kitiratschky VB et al.
European Journal of Human Genetics : Ejhg, 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
Evaluation of the G protein coupled receptor-75 (GPR75) in age related macular degeneration.
Sauer CG et al.
The British Journal of Ophthalmology, 2001