- A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing2023 | Second Faculty of Medicine
- A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencingPublication without faculty affiliation
- Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals2021 | Central Library of Charles University
- Response to Letter to the Editor from Youn Hee Jee: Familial Short Stature - A New Phenotype of Growth Plate Collagenopathies2022 | Second Faculty of Medicine
- A rare large duplication of MLH1 identified in Lynch syndrome2021 | Faculty of Medicine in Pilsen
- Impact of GLA Variant Classification on the Estimated Prevalence of Fabry Disease: A Systematic Review and Meta-Analysis of Screening Studies2023 | First Faculty of Medicine
- Variant pathogenicity evaluation in the community-driven Inherited Neuropathy Variant Browser2018 | Second Faculty of Medicine
- Functional characterization of CHEK2 variants in a Saccharomyces cerevisiae system2019 | First Faculty of Medicine
- Rare deleterious germline variants and risk of lung cancer2021 | Second Faculty of Medicine
- Prot2HG: a database of protein domains mapped to the human genome2020 | Second Faculty of Medicine
- Comprehensive Assessment of BARD1 Messenger Ribonucleic Acid Splicing With Implications for Variant Classification2019 | First Faculty of Medicine