Associated Papers
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
Prevalence of mutations in inherited retinal diseases: A comparison between the United States and India.
Yohe S et al.
Molecular Genetics & Genomic Medicine, 2020
31816670 (PubMed )
Supplement: MGG3-8-e1081-s001.xlsx › RD_Panel
Target 5000: Target Capture Sequencing for Inherited Retinal Degenerations.
Dockery A et al.
Genes, 2017
Phenotype and Progression of Retinal Degeneration Associated With Nullizigosity of ABCA4.
Fakin A et al.
Investigative Ophthalmology & Visual Science, 2016
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