- Mutation Hotspot for Changing the Substrate Specificity of β-N-Acetylhexosaminidase: A Library of GlcNAcases2022 | Faculty of Science, Central Library of Charles University
- The CYLD p.R758X worldwide recurrent nonsense mutation detected in patients with multiple familial trichoepithelioma type 1, Brooke-Spiegler syndrome and familial cylindromatosis represents a mutational hotspot in the gene2016 | Faculty of Medicine in Pilsen
- Comprehensive characterization of amino acid positions in protein structures reveals molecular effect of missense variants2020 | Faculty of Mathematics and Physics
- Schinzel-Giedion Syndrome: First Czech Patients Confirmed by Molecular Genetic Analysis2019 | Second Faculty of Medicine
- The red thread between methylation and mutation in bacterial antibiotic resistance: How third-generation sequencing can help to unravel this relationship2022 | Faculty of Medicine in Pilsen
- Genotype and phenotype in patients with Noonan syndrome and a RIT1 mutation2016 | Second Faculty of Medicine
- Spectrum and clinical manifestations of mutations in genes responsible for hypertrophic cardiomyopathy2012 | Third Faculty of Medicine
- A Novel Frameshift Mutation in the AFG3L2 Gene in a Patient with Spinocerebellar Ataxia2014 | Second Faculty of Medicine
- Diversity of cystathionine beta-synthase haplotypes bearing the most common homocystinuria mutation c.833T>C: a possible role for gene conversion2007 | First Faculty of Medicine
- Rare clinical phenotype of filaminopathy presenting as restrictive cardiomyopathy and myopathy in childhood2022 | Second Faculty of Medicine