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
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
Deep mutational scanning quantifies DNA binding and predicts clinical outcomes of PAX6 variants.
McDonnell AF et al.
Molecular Systems Biology, 2024
High Clinical Exome Sequencing Diagnostic Rates and Novel Phenotypic Expansions for Nonisolated Microphthalmia, Anophthalmia, and Coloboma.
Kunisetty B et al.
Investigative Ophthalmology & Visual Science, 2024
Mutational spectrum in a Chinese cohort with congenital cataracts.
Liu HL et al.
Molecular Genetics & Genomic Medicine, 2023
Nationwide genetic analysis of more than 600 families with inherited eye diseases in Argentina.
Schlottmann PG et al.
Npj Genomic Medicine, 2023
Evaluation of somatic and/or germline mosaicism in congenital malformation of the eye.
Chesneau B et al.
European Journal of Human Genetics : Ejhg, 2023
De Novo Mutations Contributes Approximately 7% of Pathogenicity in Inherited Eye Diseases.
Li W et al.
Investigative Ophthalmology & Visual Science, 2023
First evidence of SOX2 mutations in Peters' anomaly: Lessons from molecular screening of 95 patients.
Chesneau B et al.
Clinical Genetics, 2022
Genetic Analysis in a Swiss Cohort of Bilateral Congenital Cataract.
Rechsteiner D et al.
Jama Ophthalmology, 2021
Multi-omics profiling of primary small cell carcinoma of the esophagus reveals RB1 disruption and additional molecular subtypes.
Li R et al.
Nature Communications, 2021
The mutation spectrum in familial versus sporadic congenital cataract based on next-generation sequencing.
Fan F et al.
Bmc Ophthalmology, 2020
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
Two sisters with microphthalmia and anterior segment dysgenesis secondary to a PAX6 pathogenic variant with clinically healthy parents: a case of gonadal mosaicism?
Wawrocka A et al.
Japanese Journal of Ophthalmology, 2020
Pax6 localizes to chromatin-rich territories and displays a slow nuclear mobility altered by disease mutations.
Elvenes J et al.
Cellular and Molecular Life Sciences : Cmls, 2010
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
PAX6 mutations: genotype-phenotype correlations.
Tzoulaki I et al.
Bmc Genetics, 2005
Genetic analysis of the Caenorhabditis elegans pax-6 locus: roles of paired domain-containing and nonpaired domain-containing isoforms.
Cinar HN et al.
Genetics, 2004