Publications
- Comprehensive phenotypic and functional analysis of dominant and recessive FOXE3 alleles in ocular developmental disorders2021 | First 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
- Phenotype Variability in Czech Patients Carrying PAX6 Disease-Causing Variants2020 | First 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
- Molecular genetic cause of achromatopsia in two patients of Czech origin2019 | First Faculty of Medicine, Central Library of Charles University
- Familial Limbal Stem Cell Deficiency: Clinical, Cytological and Genetic Characterization2018 | First Faculty of Medicine, Second Faculty of Medicine, Third Faculty of Medicine
- SD-OCT imaging as a valuable tool to support molecular genetic diagnostics of Usher syndrome type 12018 | First Faculty of Medicine, Second Faculty of Medicine
- Analysis of KERA in four families with cornea plana identifies two novel mutations2018 | First Faculty of Medicine
- Rare eye disorders in daily ophthalmic clinic2018 | First Faculty of Medicine
- Preimplantation genetic diagnosis and monogenic inherited eye diseases2016 | First Faculty of Medicine
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