Associated Papers
A bird's eye view on the use of whole exome sequencing in rare congenital ophthalmic diseases.
Zucco J et al.
Journal of Human Genetics, 2024
Mutational spectrum in a Chinese cohort with congenital cataracts.
Liu HL et al.
Molecular Genetics & Genomic Medicine, 2023
37337769 (PubMed )
Supplement: MGG3-11-e2196-s001.xlsx › Sheet2
De Novo Mutations Contributes Approximately 7% of Pathogenicity in Inherited Eye Diseases.
Li W et al.
Investigative Ophthalmology & Visual Science, 2023
36729443 (PubMed )
Supplement: iovs-64-2-5_s003.xlsx › All_Identified_Causative_Mutant
Exome Sequencing Identified Molecular Determinants of Retinal Dystrophies in Nine Consanguineous Pakistani Families.
Tehreem R et al.
Genes, 2022
Relative Frequencies of PAX6 Mutational Events in a Russian Cohort of Aniridia Patients in Comparison with the World's Population and the Human Genome.
Vasilyeva TA et al.
International Journal of Molecular Sciences, 2022
35743132 (PubMed )
Supplement: ijms-23-06690-s001.zip › Table_S1.pdf
Molecular analysis of patients with aniridia in Russian Federation broadens the spectrum of PAX6 mutations.
Vasilyeva TA et al.
Clinical Genetics, 2017
Screening of PAX6 gene in Italian congenital aniridia patients revealed four novel mutations.
Primignani P et al.
Ophthalmic Genetics, 2016
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