Publications
- A multi-ethnic genome-wide association study implicates collagen matrix integrity and cell differentiation pathways in keratoconus2021 | First Faculty of Medicine
- Non-Penetrance for Ocular Phenotype in Two Individuals Carrying Heterozygous Loss-of-Function ZEB1 Alleles2021 | First Faculty of Medicine
- Hereditary hyperferritinemia-cataract syndrome in three Czech families: molecular genetic testing and clinical implications2020 | First Faculty of Medicine, Second Faculty of Medicine
- Brittle cornea syndrome: Disease-causing mutations in ZNF469 and two novel variants identified in a patient followed for 26 years2020 | First Faculty of Medicine
- The utility of massively parallel sequencing for posterior polymorphous corneal dystrophy type 3 molecular diagnosis2019 | First Faculty of Medicine, Third Faculty of Medicine
- Congenital fibrosis of the extraocular muscles in a Czech family and its molecular genetic cause2019 | First Faculty of Medicine, Second Faculty of Medicine
- IPSC-Derived Corneal Endothelial-like Cells Act as an Appropriate Model System to Assess the Impact of SLC4A11 Variants on Pre-mRNA Splicing2019 | First Faculty of Medicine
- Ectopic GRHL2 Expression Due to Non-coding Mutations Promotes Cell State Transition and Causes Posterior Polymorphous Corneal Dystrophy 42018 | First Faculty of Medicine, Third Faculty of Medicine
- Antisense Therapy for a Common Corneal Dystrophy Ameliorates TCF4 Repeat Expansion-Mediated Toxicity2018 | First Faculty of Medicine
- Replication of SNP associations with keratoconus in a Czech cohort2017 | First Faculty of Medicine, Second Faculty of Medicine
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