Associated Papers
Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis.
Panneman DM et al.
Frontiers in Cell and Developmental Biology, 2023
36819107 (PubMed )
Supplement: Table2.XLSX › DIVs
Using single molecule Molecular Inversion Probes as a cost-effective, high-throughput sequencing approach to target all genes and loci associated with macular diseases.
Hitti-Malin RJ et al.
Human Mutation, 2022
36259723 (PubMed )
Supplement: HUMU-43-2234-s007.xlsx › DIVs
Genotype-Specific Lesion Growth Rates in Stargardt Disease.
Heath Jeffery RC et al.
Genes, 2021
34946930 (PubMed )
Supplement: genes-12-01981-s001.zip › genes-1479134-supplementary.pdf
Clinical spectrum, genetic complexity and therapeutic approaches for retinal disease caused by ABCA4 mutations.
Cremers FPM et al.
Progress in Retinal and Eye Research, 2020
Phenotype-genotype correlations in a pseudodominant Stargardt disease pedigree due to a novel ABCA4 deletion-insertion variant causing a splicing defect.
Huang D et al.
Molecular Genetics & Genomic Medicine, 2020
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