Publications
- 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
- Isolated aneurysmal disease as an underestimated finding in individuals with JAG1 pathogenic variants2022 | Second Faculty of Medicine, Central Library of Charles University
- A MT-TL1 variant identified by whole exome sequencing in an individual with intellectual disability, epilepsy, and spastic tetraparesis2021 | Second Faculty of Medicine
- Complex approach towards patients with hypertrophic cardiomyopathy and indications to genetic testing2020 | Second Faculty of Medicine, Central Library of Charles University
- Plasminogen Activator Inhibitor and Sudden Cardiac Death2019 | Second Faculty of Medicine, Faculty of Science, First Faculty of Medicine
- The role of genetic examination in the diagnosis of causes of circulatory arrest in a young patient without structural heart disease2019 | Second Faculty of Medicine
- Targeted massively parallel sequencing of a representative cohort of Czech patients with various rare aortopathies demonstrates the clinical utility of genetic testing and the need for a multidisciplinary approach to at risk families2018 | Second Faculty of Medicine
- Post-mortem genetic testing in sudden cardiac death and genetic screening of relatives at risk: lessons learned from a Czech pilot multidisciplinary study2023 | Second Faculty of Medicine, First Faculty of Medicine, Central Library of Charles University, Faculty of Physical Education and Sport, Faculty of Medicine in Pilsen, Third Faculty of Medicine, Faculty of Medicine in Hradec Králové
- Postmortem genetic testing in sudden cardiac death victims and genetic screening of relatives at risk in the Czech Republic2023 | Second Faculty of Medicine, First Faculty of Medicine, Central Library of Charles University, Third Faculty of Medicine, Faculty of Medicine in Hradec Králové
- The most common founder pathogenic variant c.868G > A (p.Val290Met) in the NPHS2 gene in a representative adult Czech cohort with focal segmental glomerulosclerosis is associated with a milder disease and its underdiagnosis in childhood2023 | Second Faculty of Medicine, First Faculty of Medicine, Faculty of Medicine in Pilsen, Third Faculty of Medicine, Faculty of Medicine in Hradec Králové
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