- Variant pathogenicity evaluation in the community-driven Inherited Neuropathy Variant Browser2018 | Second Faculty of Medicine
- Missed diagnosis of Fabry disease: should we screen patients with multiple sclerosis?2024 | First Faculty of Medicine
- Germline CHEK2 Gene Mutations in Hereditary Breast Cancer Predisposition - Mutation Types and their Biological and Clinical Relevance2019 | First Faculty of Medicine
- A recurrent synonymous L1CAM variant in a fetus with hydrocephalus2024 | Faculty of Medicine in Pilsen
- Recent development of diagnostic methods in medical genetics2019 | Faculty of Medicine in Pilsen
- OPA1 analysis in an international series of probands with bilateral optic atrophy2017 | First Faculty of Medicine
- IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients2019 | Second Faculty of Medicine
- Detailed phenotype of GLA variants identified by the nationwide neurological screening of stroke patients in the Czech Republic2021 | First Faculty of Medicine, Second Faculty of Medicine
- The BRCA1 alternative splicing variant Delta 14-15 with an in-frame deletion of part of the regulatory serine-containing domain (SCD) impairs the DNA repair capacity in MCF-7 cells2012 | First Faculty of Medicine, Third Faculty of Medicine
- CNVs in patients with epilepsy - Czech experiencePublication without faculty affiliation
- Bicuspid aortic valve: a pilot candidate gene-based approach in a representative Czech cohor2020 | Second Faculty of Medicine
- HCN1 mutation spectrum: from neonatal epileptic encephalopathy to benign genera lized epilepsy and beyond2018 | Second Faculty of Medicine