Associated Papers
The Systemic Genotype-Phenotype Characterization of PAX6-Related Eye Disease in 164 Chinese Families.
Jiang Y et al.
Investigative Ophthalmology & Visual Science, 2024
39212610 (PubMed )
Supplement: iovs-65-10-46_s006.pdf
Using computational approaches to enhance the interpretation of missense variants in the PAX6 gene.
Andhika NS et al.
European Journal of Human Genetics : Ejhg, 2024
38849599 (PubMed )
Supplement: 41431_2024_1638_MOESM2_ESM.xlsx › Suppl-Table-2a
Deep mutational scanning quantifies DNA binding and predicts clinical outcomes of PAX6 variants.
McDonnell AF et al.
Molecular Systems Biology, 2024
38849565 (PubMed )
Supplement: 44320_2024_43_MOESM3_ESM.xlsx › Human_Variants
Analysis of genotype-phenotype correlations in PAX6-associated aniridia.
Vasilyeva TA et al.
Journal of Medical Genetics, 2021
Recurrent heterozygous PAX6 missense variants cause severe bilateral microphthalmia via predictable effects on DNA-protein interaction.
Williamson KA et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
31700164 (PubMed )
Supplement: 41436_2019_685_MOESM10_ESM.xls › PivotTable
Functional reassessment of PAX6 single nucleotide variants by in vitro splicing assay.
Filatova AY et al.
European Journal of Human Genetics : Ejhg, 2019
Case series: Pyramidal cataracts, intact irides and nystagmus from three novel PAX6 mutations.
Chauhan BK et al.
American Journal of Ophthalmology Case Reports, 2018
Molecular analysis of patients with aniridia in Russian Federation broadens the spectrum of PAX6 mutations.
Vasilyeva TA et al.
Clinical Genetics, 2017
PAX6 allelic heterogeneity in Mexican congenital aniridia patients: expanding the mutational spectrum with seven novel pathogenic variants.
Pérez-Solórzano S et al.
Clinical & Experimental Ophthalmology, 2017
Using protein design algorithms to understand the molecular basis of disease caused by protein-DNA interactions: the Pax6 example.
Alibés A et al.
Nucleic Acids Research, 2010
Two nonsense mutations of PAX6 in two Japanese aniridia families: case report and review of the literature.
Kondo-Saitoh A et al.
European Journal of Ophthalmology, 0
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