- Parental gonadal but not somatic mosaicism leading to de novo NFIX variants shared by two brothers with Malan syndrome2019 | First Faculty of Medicine, Second Faculty of Medicine
- Pigmentary retinopathy can indicate the presence of pathogenic LAMP2 variants even in somatic mosaic carriers with no additional signs of Danon disease2021 | First Faculty of Medicine, Second Faculty of Medicine, Central Library of Charles University, Faculty of Medicine in Hradec Králové
- SDHC Methylation Pattern in Patients With Carney Triad2021 | Faculty of Medicine in Pilsen
- Somatic TP53 Mutation Mosaicism in a Patient With Li-Fraumeni Syndrome2009 | Second Faculty of Medicine
- Localized mosaic neurofibromatosis type 12022 | Second Faculty of Medicine
- Different Manifestations of the Fragile X Chromosome Syndrome and Their Causes2007 | Second Faculty of Medicine
- Macrodactyly of hand and coincidence with a mild form of Poland syndrome: A review and case report of a Czech boy2023 | First Faculty of Medicine, Central Library of Charles University
- CRISPR/Cas9-targeted anrichment and long-read sequencing of the Fuchs endothelial corneal dystrophy-associated TCF4 triplet repeat2019 | First Faculty of Medicine
- CRISPR/Cas9-targeted enrichment and long-read sequencing of the Fuchs endothelial corneal dystrophy-associated TCF4 triplet repeat2019 | First Faculty of Medicine
- CpG Methylation, a Parent-of-Origin Effect for Maternal-Biased Transmission of Congenital Myotonic Dystrophy2017 | First Faculty of Medicine, Faculty of Physical Education and Sport, Second Faculty of Medicine
- Novel BRAF mutation in a patient with LEOPARD syndrome and normal intelligence2009 | Second Faculty of Medicine
- Goltz-Gorlin (focal dermal hypoplasia) and the microphthalmia with linear skin defects (MLS) syndrome: no evidence of genetic overlap2009 | Second Faculty of Medicine
- Multigene Panel Germline Testing of 1333 Czech Patients with Ovarian Cancer2020 | First Faculty of Medicine
- Mosaicism for GJB1 mutation causes milder Charcot-Marie-Tooth X1 phenotype in a heterozygous man than in a manifesting heterozygous woman2013 | Faculty of Science, First Faculty of Medicine, Faculty of Physical Education and Sport, Second Faculty of Medicine
- The phenotypic spectrum of SCN8A encephalopathy2015 | Second Faculty of Medicine
- Residual sexuality of the apomict Pilosella rubra under natural conditions in the Krkonose Mts2020 | Faculty of Science
- Modern methods in diagnostics and research of molecular bases of rare diseases2018 | First Faculty of Medicine