Publications
- 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
- Case report: Two heterozygous pathogenic variants of CYP24A1: A novel cause of hypercalcemia and nephrocalcinosis in adulthood2023 | Second Faculty of Medicine, Third Faculty of Medicine
- 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
- Patients with hypertrophic obstructive cardiomyopathy after alcohol septal ablation have favorable long-term outcome irrespective of their genetic background2020 | Second Faculty of Medicine
- Bicuspid aortic valve: a pilot candidate gene-based approach in a representative Czech cohor2020 | Second Faculty of Medicine
- Plasminogen Activator Inhibitor and Sudden Cardiac Death2019 | Second Faculty of Medicine, Faculty of Science, First Faculty of Medicine
- Clinical utility of FLNC variants identified in 4 young Czech people with sudden cardiac arrest for clinical management of their at risk relatives +12019 | 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
- Complex cytogenetic and molecular genetic diagnostics of congenital heart defectsPublication without faculty affiliation
- 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
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