Associated Papers
Spectrum of Genetic Variants in the Most Common Genes Causing Inherited Retinal Disease in a Large Molecularly Characterized United Kingdom Cohort.
Lin S et al.
Ophthalmology. Retina, 2024
38219857 (PubMed )
Supplement: mmc1.pdf
Identification of a novel truncating variant in AHI1 gene and a brief review on mutations spectrum.
Karamzade A et al.
Molecular Biology Reports, 2021
An Improved Phenotype-Driven Tool for Rare Mendelian Variant Prioritization: Benchmarking Exomiser on Real Patient Whole-Exome Data.
Cipriani V et al.
Genes, 2020
32340307 (PubMed )
Supplement: genes-11-00460-s001.pdf
Missense mutations in the WD40 domain of AHI1 cause non-syndromic retinitis pigmentosa.
Nguyen TT et al.
Journal of Medical Genetics, 2017
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