Publications
- The most common founder pathogenic variant c.868G > A (p.Val290Met) in the NPHS2 gene in a representative adult Czech cohort with focal segmental glomerulosclerosis is associated with a milder disease and its underdiagnosis in childhood2023 | First Faculty of Medicine, Second Faculty of Medicine, Faculty of Medicine in Pilsen, Faculty of Medicine in Hradec Králové, Third Faculty of Medicine
- The possibilities of molecular-genetic diagnostics of myotonic dystrophy type 12004 | First Faculty of Medicine, Faculty of Physical Education and Sport, Second Faculty of Medicine
- Multi-center real-world comparison of the fully automated IdyllaTM microsatellite instability assay with routine molecular methods and immunohistochemistry on formalin-fixed paraffin-embedded tissue of colorectal cancer2021 | Second Faculty of Medicine, Faculty of Medicine in Pilsen
- Benefits of targeted sequencing in noninvasive prenatal testing2017 | Second Faculty of Medicine, Faculty of Medicine in Pilsen
- Preimplantation genetic diagnostics of monogenic-based diseases: possibilities, pitfalls and first accomplishments in the Czech Republic2008 | Second Faculty of Medicine
- QF-PCR examination of parental and meiotic origin of trisomy 21 in Central and Eastern Europe2005 | First Faculty of Medicine, Faculty of Physical Education and Sport, Second Faculty of Medicine
- Quantitative fluorescent polymerase chain reaction (QFPCR) in the prenatal and postnatal diagnosis of the most frequent aneuploide2003 | First Faculty of Medicine, Faculty of Physical Education and Sport, Second Faculty of Medicine
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