Associated Papers
Adult genomic medicine: lessons from a multisite study of 2700 patients.
Bakur K et al.
Genome Medicine, 2025
Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes.
Hitti-Malin RJ et al.
Biomolecules, 2024
Targeted sequencing and in vitro splice assays shed light on ABCA4-associated retinopathies missing heritability.
Corradi Z et al.
Hgg Advances, 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
Genetic epidemiology of inherited retinal diseases in a large patient cohort followed at a single center in Italy.
Karali M et al.
Scientific Reports, 2022
Genetic characteristics of 234 Italian patients with macular and cone/cone-rod dystrophy.
Falsini B et al.
Scientific Reports, 2022
Stargardt disease and progress in therapeutic strategies.
Huang D et al.
Ophthalmic Genetics, 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
Updating the Genetic Landscape of Inherited Retinal Dystrophies.
García Bohórquez B et al.
Frontiers in Cell and Developmental Biology, 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
Expanding the Mutation Spectrum in ABCA4: Sixty Novel Disease Causing Variants and Their Associated Phenotype in a Large French Stargardt Cohort.
Nassisi M et al.
International Journal of Molecular Sciences, 2018
Reading Ability and Quality of Life in Stargardt Disease.
Murro V et al.
European Journal of Ophthalmology, 2017
En face OCT in Stargardt disease.
Sodi A et al.
Graefe's Archive for Clinical and Experimental Ophthalmology = Albrecht Von Graefes Archiv Fur Klinische Und Experimentelle Ophthalmologie, 2016
Macular function and morphologic features in juvenile stargardt disease: longitudinal study.
Testa F et al.
Ophthalmology, 2014
The clinical effect of homozygous ABCA4 alleles in 18 patients.
Fujinami K et al.
Ophthalmology, 2013
Retinal phenotypes in patients homozygous for the G1961E mutation in the ABCA4 gene.
Burke TR et al.
Investigative Ophthalmology & Visual Science, 2012
Novel mutations in of the ABCR gene in Italian patients with Stargardt disease.
Passerini I et al.
Eye (london, England), 2010
Denaturing HPLC profiling of the ABCA4 gene for reliable detection of allelic variations.
Stenirri S et al.
Clinical Chemistry, 2004