Publications
- 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
- 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
- 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
- Genome-wide variant calling in reanalysis of exome sequencing data uncovered a pathogenic TUBB3 variant2022 | Second Faculty of Medicine
- Solving patients with rare diseases through programmatic reanalysis of genome-phenome data2021 | Second Faculty of Medicine
- 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
- Bicuspid aortic valve: a pilot candidate gene-based approach in a representative Czech cohor2020 | Second Faculty of Medicine
- Solve-RD: the ITHACA perspectivePublication without faculty affiliation
- 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
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