Publications
- Pseudodominant Nanophthalmos in a Roma Family Caused by a Novel PRSS56 Variant2020 | 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
- 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
- Analysis of KERA in four families with cornea plana identifies two novel mutations2018 | First Faculty of Medicine
- Novel TGFBI mutation p.(Leu558Arg) in a lattice corneal dystrophy patient2016 | First Faculty of Medicine
- Severe retinal degeneration in women with a c .2543del mutation in ORF15 of the RPGR gene2014 | First Faculty of Medicine
- Disruption of OVOL2 Distal Regulatory Elements as a Possible Mechanism Implicated in Corneal Endothelial Dystrophy2024 | First Faculty of Medicine, Second Faculty of Medicine
- Lisch Epithelial Corneal Dystrophy Is Caused by Heterozygous Loss-of-Function Variants in MCOLN12024 | First Faculty of Medicine
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