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, Faculty of Medicine in Pilsen, Third Faculty of Medicine, Faculty of Medicine in Hradec Králové, First Faculty of Medicine
- A founder COL4A4 pathogenic variant resulting in autosomal recessive Alport syndrome accounts for most genetic kidney failure in Romani people2023 | Second Faculty of Medicine, Central Library of Charles University, Faculty of Medicine in Pilsen, Third Faculty of Medicine
- Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases2021 | Second Faculty of Medicine
- Solving unsolved rare neurological diseases-a Solve-RD viewpoint2021 | Second Faculty of Medicine
- Solving patients with rare diseases through programmatic reanalysis of genome-phenome data2021 | Second Faculty of Medicine
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