Associated Papers
Clinical and genetic landscape of IRD in Portugal: pooled data from the nationwide IRD-PT registry.
Marta A et al.
Npj Genomic Medicine, 2025
39939324 (PubMed )
Supplement: 41525_2025_475_MOESM1_ESM.xlsx › Families
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
32884132 (PubMed )
Supplement: NIHMS1630822-supplement-Supplementary_Tables.xlsx › S6_ABCA4_variants
The Scope of Pathogenic ABCA4 Mutations Targetable by CRISPR DNA Base Editing Systems-A Systematic Review.
Piotter E et al.
Frontiers in Genetics, 2021
35154257 (PubMed )
Supplement: DataSheet1.xlsx › 5._Gnomad-all_variants
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 2019
31589614 (PubMed )
Supplement: pgen.1008409.s001.xlsx › P_LP_Variants
Generation of two iPS cell lines (FRIMOi003-A and FRIMOi004-A) derived from Stargardt patients carrying ABCA4 compound heterozygous mutations.
Riera M et al.
Stem Cell Research, 2019
Molecular Screening of 43 Brazilian Families Diagnosed with Leber Congenital Amaurosis or Early-Onset Severe Retinal Dystrophy.
Porto FBO et al.
Genes, 2017
Whole exome sequencing using Ion Proton system enables reliable genetic diagnosis of inherited retinal dystrophies.
Riera M et al.
Scientific Reports, 2017
Outcome of ABCA4 disease-associated alleles in autosomal recessive retinal dystrophies: retrospective analysis in 420 Spanish families.
Riveiro-Alvarez R et al.
Ophthalmology, 2013
ABCA4 gene screening by next-generation sequencing in a British cohort.
Fujinami K et al.
Investigative Ophthalmology & Visual Science, 2013
Mapping of the rod photoreceptor ABC transporter (ABCR) to 1p21-p22.1 and identification of novel mutations in Stargardt's disease.
Nasonkin I et al.
Human Genetics, 1998
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