- Validation of CZECANCA (CZEch CAncer paNel for Clinical Application) for targeted NGS-based analysis of hereditary cancer syndromes2018 | First Faculty of Medicine
- Novel Familial IQSEC2 Pathogenic Sequence Variant Associated With Neurodevelopmental Disorders and Epilepsy2020 | Second Faculty of Medicine
- Severe neurodevelopmental disorder with intractable seizures due to a novel SLC1A4 homozygous variant2021 | Second Faculty of Medicine
- Diagnostic Yield of Next-generation Sequencing in Very Early-onset Inflammatory Bowel Diseases: A Multicentre Study2018 | Second Faculty of Medicine
- Targeted next generation sequencing of MLH1-deficient, MLH1 promoter hypermethylated, and BRAF/RAS-wild-type colorectal adenocarcinomas is effective in detecting tumors with actionable oncogenic gene fusions2020 | Second Faculty of Medicine, Faculty of Medicine in Pilsen
- Muscular dystrophies and myopathies: the spectrum of mutated genes in the Czech Republic2017 | Central Library of Charles University, First Faculty of Medicine, Second Faculty of Medicine
- Search for a time- and cost-saving genetic testing strategy for maturity-onset diabetes of the young2022 | Second Faculty of Medicine, Faculty of Mathematics and Physics
- Biomarker immunoprofile and molecular characteristics in salivary duct carcinoma: clinicopathological and prognostic implications2019 | Faculty of Medicine in Pilsen
- Genetic diagnosis of steroid-resistant nephrotic syndrome in a longitudinal collection of Czech and Slovak patients: a high proportion of causative variants in NUP932018 | 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