Associated Papers
Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes.
Hitti-Malin RJ et al.
Biomolecules, 2024
38540785 (PubMed )
Supplement: biomolecules-14-00367-s001.zip › Supplementary_Table_S10-Mono-allelic_variants_in_probands_considered_not_solved.xlsx › Sheet1
Targeted sequencing and in vitro splice assays shed light on ABCA4-associated retinopathies missing heritability.
Corradi Z et al.
Hgg Advances, 2023
37705246 (PubMed )
Supplement: mmc9.xlsx › Table_S11
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
40225145 (PubMed )
Supplement: 6815504.f1.zip › S1_ACMG_Categorisation.xlsx › Overview_S1
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
35119454 (PubMed )
Supplement: iovs-63-2-11_s003.pdf
Clinical and Genetic Spectrum of Stargardt Disease in Argentinean Patients.
Mena MD et al.
Frontiers in Genetics, 2021
33841504 (PubMed )
Supplement: Data_Sheet_2.xlsx › Supplementary_Table_2
Association of Sex With Frequent and Mild ABCA4 Alleles in Stargardt Disease.
Runhart EH et al.
Jama Ophthalmology, 2020
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