- International Porphyria Molecular Diagnostic Collaborative: an evidence-based database of verified pathogenic and benign variants for the porphyrias2019 | First Faculty of Medicine
- Multiple granular cell tumour2004 | First Faculty of Medicine, Faculty of Physical Education and Sport, Second Faculty of Medicine
- Detection rate of causal variants in severe childhood epilepsy is highest in patients with seizure onset within the first four weeks of life2018 | Second Faculty of Medicine
- Shifting landscapes of human MTHFR missense-variant effects2021 | First Faculty of Medicine
- Genetic testing of children with familial tall stature: is it worth doing?2024 | Second Faculty of Medicine
- CNVs in patients with epilepsy - Czech experiencePublication without faculty affiliation
- Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes2023 | First Faculty of Medicine