- Evaluation of DHPLC analysis for mutation detection in haemophilia A2006 | First Faculty of Medicine
- Rapid and accurate denaturating high performance liquid chromatography protocol for the detection of alpha-L-iduronidase mutations causing mucopolysaccharidosis type I2010 | First Faculty of Medicine
- Rapid detection of CAA/CAG repeat polymorphism in the AIB1 gene using DHPLC2007 | First Faculty of Medicine
- Glucokinase diabetes in 103 families from a country-based study in the Czech Republic: geographically restricted distribution of two prevalent GCK mutations2010 | Third Faculty of Medicine, Second Faculty of Medicine
- Novel mutations in the NF1 gene in Czech patients with neurofibromatosis type 12007 | Second Faculty of Medicine
- Contribution of the Beta-ureidopropionase (UPB1) gene alterations to the development of fluoropyrimidine-related toxicity2012 | First Faculty of Medicine
- A rare large duplication of MLH1 identified in Lynch syndrome2021 | Faculty of Medicine in Pilsen
- Alterations of CHEK2 gene in non-Hodgkin lymphoma patientsPublication without faculty affiliation
- Multiple adenomatous duodenal polyposis2013 | Third Faculty of Medicine
- Diagnostic Guidelines for High-Resolution Melting Curve (HRM) Analysis: An Interlaboratory Validation of BRCA1 Mutation Scanning Using the 96-Well LightScanner (TM)2009 | Second Faculty of Medicine
- Genetic epidemiology of MODY in the Czech republic: new mutations in the MODY genes HNF-4α, GCK and HNF-1α2003 | Third Faculty of Medicine, Second Faculty of Medicine
- Gross genomic rearrangements involving deletions in the CFTR gene: characterization of six new events from a large cohort of hitherto unidentified cystic fibrosis chromosomes and meta-analysis of the underlying mechanisms2006 | Second Faculty of Medicine
- Analysis of histopathologic and molecular pathologic findings in Czech LGMD2A patients2006 | Second Faculty of Medicine
- Association of Germline CHEK2 Gene Variants with Risk and Prognosis of Non-Hodgkin Lymphoma2015 | First Faculty of Medicine
- Clinical consequences of PKHD1 mutations in 164 patients with autosomal-recessive polycystic kidney disease (ARPKD)2005 | Second Faculty of Medicine