Publications
- 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
- Postmortem genetic testing in sudden cardiac death victims and genetic screening of relatives at risk in the Czech Republic2023 | Second Faculty of Medicine, Central Library of Charles University, First Faculty of Medicine, Third Faculty of Medicine, Faculty of Medicine in Hradec Králové
- Czech Association for Preventive Cardiology Expert Consensus Statement on the State of Genetic Testing for Inherited Cardiovascular Diseases2023 | Second Faculty of Medicine, First Faculty of Medicine, Faculty of Medicine in Hradec Králové
- Outcomes of a multicenter study of the causes of sudden cardiac death (SCD) in the Czech Republic and primary prevention of cardiac arrest in relatives2022 | Second Faculty of Medicine, Central Library of Charles University, First Faculty of Medicine, Faculty of Physical Education and Sport, Faculty of Medicine in Pilsen, Third Faculty of Medicine, Faculty of Medicine in Hradec Králové
- Co-designing models for the communication of genomic results for rare diseases: a comparative study in the Czech Republic and the United Kingdom2022 | Second Faculty of Medicine, First Faculty of Medicine
- Natural history of KBG syndrome in a large European cohort2022 | 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
- Bicuspid aortic valve: a pilot candidate gene-based approach in a representative Czech cohor2020 | 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
- The role of genetics in early postnatal care with a focus on VVV2017 | Second Faculty of Medicine
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