- Validation of CZECANCA (CZEch CAncer paNel for Clinical Application) for targeted NGS-based analysis of hereditary cancer syndromes2018 | 1. lékařská fakulta
- Novel Familial IQSEC2 Pathogenic Sequence Variant Associated With Neurodevelopmental Disorders and Epilepsy2020 | 2. lékařská fakulta
- Severe neurodevelopmental disorder with intractable seizures due to a novel SLC1A4 homozygous variant2021 | 2. lékařská fakulta
- Diagnostic Yield of Next-generation Sequencing in Very Early-onset Inflammatory Bowel Diseases: A Multicentre Study2018 | 2. lékařská fakulta
- 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 | 2. lékařská fakulta, Lékařská fakulta v Plzni
- Muscular dystrophies and myopathies: the spectrum of mutated genes in the Czech Republic2017 | Ústřední knihovna, 1. lékařská fakulta, 2. lékařská fakulta
- Search for a time- and cost-saving genetic testing strategy for maturity-onset diabetes of the young2022 | 2. lékařská fakulta, Matematicko-fyzikální fakulta
- Biomarker immunoprofile and molecular characteristics in salivary duct carcinoma: clinicopathological and prognostic implications2019 | Lékařská fakulta v Plzni
- Genetic diagnosis of steroid-resistant nephrotic syndrome in a longitudinal collection of Czech and Slovak patients: a high proportion of causative variants in NUP932018 | 2. lékařská fakulta
- IPSC-Derived Corneal Endothelial-like Cells Act as an Appropriate Model System to Assess the Impact of SLC4A11 Variants on Pre-mRNA Splicing2019 | 1. lékařská fakulta