Associated Papers
Clinical Exome Sequencing: A Genetic Diagnostic Approach for Inherited Retinal Dystrophies.
Barberán-Martínez P et al.
The Journal of Molecular Diagnostics : Jmd, 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
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
Molecular findings from 537 individuals with inherited retinal disease.
Ellingford JM et al.
Journal of Medical Genetics, 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
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
Molecular scanning of the ABCA4 gene in Spanish patients with retinitis pigmentosa and Stargardt disease: identification of novel mutations.
Stenirri S et al.
European Journal of Ophthalmology, 0