Associated Papers
Long-read Sequencing in Inherited Retinal Dystrophies: A Systematic Review.
Ibrahim M et al.
Ophthalmology Science, 2026
Usher Syndrome on the Island of Ireland: A Genotype-Phenotype Review.
Stephenson KAJ et al.
Investigative Ophthalmology & Visual Science, 2023
37466950 (PubMed )
Supplement: iovs-64-10-23_s002.xlsx › Sheet1
Targeted adaptive long-read sequencing for discovery of complex phased variants in inherited retinal disease patients.
Nakamichi K et al.
Scientific Reports, 2023
Inherited Retinal Dystrophy in Southeastern United States: Characterization of South Carolina Patients and Comparative Literature Review.
Griffith J et al.
Genes, 2022
36011402 (PubMed )
Supplement: genes-13-01490-s001.zip › Table_S1.xlsx › Supplemental_Table_S1
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 › S8_USH2A_variants
Disease course in patients with autosomal recessive retinitis pigmentosa due to the USH2A gene.
Sandberg MA et al.
Investigative Ophthalmology & Visual Science, 2008
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