Publications
- Organoids as a personalized medicine tool for ultra-rare mutations in cystic fibrosis: The case of S955P and 1717-2A > G2020 | Second Faculty of Medicine
- Complex CFTR alleles in the era of CFTR modulator therapy: a case report2023 | First Faculty of Medicine, Second Faculty of Medicine, Faculty of Medicine in Pilsen
- Natural history of KBG syndrome in a large European cohort2022 | Second Faculty of Medicine
- Epidemiology of rare diseases detected by newborn screening in the Czech Republic2019 | First Faculty of Medicine, Second Faculty of Medicine, Third Faculty of Medicine
- Cystic fibrosis newborn screening and CFSPID diagnostics2019 | Second Faculty of Medicine
- Neonatal screening in the Czech Republic: increased prevalence of selected diseases in low birthweight neonates2018 | First Faculty of Medicine, Second Faculty of Medicine, Third Faculty of Medicine
- Under the mask of Kabuki syndrome: Elucidation of genetic-and phenotypic heterogeneity in patients with Kabuki-like phenotype2018 | Second Faculty of Medicine
- Molecular genetic analysis in 14 Czech Kabuki syndrome patients is confirming the utility of phenotypic scoring2016 | First Faculty of Medicine, Faculty of Physical Education and Sport, Second Faculty of Medicine, Faculty of Medicine in Hradec Králové
- Results of expanded newborn screening in the Czech Republic2014 | First Faculty of Medicine, Second Faculty of Medicine, Third Faculty of Medicine
- Distribution of CFTR mutations in the Czech population: Positive impact of integrated clinical and laboratory expertise, detection of novel/de novo alleles and relevance for related/derived populations2013 | First Faculty of Medicine, Faculty of Physical Education and Sport, Second Faculty of Medicine
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