- How Important Are Structural Variants for Speciation?2021 | Faculty of Science
- Algorithm for relatedness prediction on the basis of structural variantsPublication without faculty affiliation
- Improving structural variant clustering to reduce the negative effect of the breakpoint uncertainty problem2021 | Second Faculty of Medicine, First Faculty of Medicine
- Familial dysbetalipoproteinaemia and structural variant apoE2*(Arg136Cys) +1Publication without faculty affiliation
- Familiar dysbetalipoproteinaemia and structural variant of ApoE2 (Arg136-Cys)Publication without faculty affiliation
- Targeted long-read sequencing identified a causal structural variant in X-linked nephrogenic diabetes insipidus2023 | Faculty of Medicine in Pilsen, Third Faculty of Medicine
- Targeted long-read sequencing identified a causal structural variant in X-linked nephrogenic diabetes insipidus2024 | Faculty of Medicine in Pilsen
- Distinct patterns of complex rearrangements and a mutational signature of microhomeology are frequently observed in PLP1 copy number gain structural variants2019 | Second Faculty of Medicine
- Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics2020 | First Faculty of Medicine
- Whole genome sequencing for USH2A-associated disease reveals several pathogenic deep-intronic variants that are amenable to splice correction2023 | First Faculty of Medicine
- Enhancer hijacking activates GFI1 family oncogenes in medulloblastoma2014 | Second Faculty of Medicine
- Recommendations for whole genome sequencing in diagnostics for rare diseases2022 | Second Faculty of Medicine
- RAG-mediated recombination is the predominant driver of oncogenic rearrangement in ETV6-RUNX1 acute lymphoblastic leukemia2014 | Second Faculty of Medicine
- The molecular landscape of ETMR at diagnosis and relapse2019 | Second Faculty of Medicine
- Very short DNA segments can be detected and handled by the repair machinery during germline chromothriptic chromosome reassembly2018 | Second Faculty of Medicine, First Faculty of Medicine
- Lack of PAX4 mutations in 53 Czech MODYX families2010 | Second Faculty of Medicine
- Parallel adaptation in autopolyploid Arabidopsis arenosa is dominated by repeated recruitment of shared alleles2021 | Faculty of Science
- Molecular genetic cause of non-syndromic congenital and juvenile cataracts in the Czech populationPublication without faculty affiliation
- Two novel Bartonella (sub)species isolated from edible dormice (Glis glis): Hints of cultivation stress-induced genomic changes2023 | First Faculty of Medicine, Faculty of Science, Central Library of Charles University
- Combined presumptive HPLC assay of fetal hemoglobine by using glycated hemoglobin mode2007 | Second Faculty of Medicine
- Genomic Structure of Hstx2 Modifier of Prdm9-Dependent Hybrid Male Sterility in Mice2019 | Second Faculty of Medicine, Faculty of Science, Central Library of Charles University
- A rare large duplication of MLH1 identified in Lynch syndrome2021 | Faculty of Medicine in Pilsen