- Cystic fibrosis: A model of complex pathogenesis in monogenic diseases2002 | Second Faculty of Medicine
- Monogenic disease analysis establishes that fetal insulin accounts for half of human fetal growth2023 | Second Faculty of Medicine
- Preimplantation genetic diagnostics of monogenic-based diseases: possibilities, pitfalls and first accomplishments in the Czech Republic2008 | Second Faculty of Medicine
- anamnézy; defekt jednoho genu2006 | Second Faculty of Medicine, First Faculty of Medicine, Faculty of Physical Education and Sport, Central Library of Charles University, Third Faculty of Medicine
- Periodic fevers and auto-inflammatory diseases2012 | Second Faculty of Medicine
- Fabry disease - an overview for a dermatologist2017 | First Faculty of Medicine
- Variant recurrence confirms the existence of a FBXO31-related spastic-dystonic cerebral palsy syndrome2021 | First Faculty of Medicine
- Osteoporosis in young adults2022 | First Faculty of Medicine
- Genetics of Familial Hypercholesterolemia: New Insights2020 | First Faculty of Medicine, Faculty of Medicine in Hradec Králové
- Autosomal dominant tubulointerstitial kidney disease: diagnosis, classification, and management-A KDIGO consensus report2015 | First Faculty of Medicine
- Cardiogenetics through cytogenetic eyes - submicroscopic aberration in patients with congenital heart defects2018 | Second Faculty of Medicine
- Recent progress of the ARegPKD registry study on autosomal recessive polycystic kidney disease2017 | Second Faculty of Medicine
- Newly designed 11-gene panel reveals first case of hereditary amyloidosis captured by massive parallel sequencing2018 | Second Faculty of Medicine
- Novel Splicing Variant in the PMM2 Gene in a Patient With PMM2-CDG Syndrome Presenting With Pericardial Effusion: A Case Report2020 | First Faculty of Medicine
- Modifier gene study of meconium ileus in cystic fibrosis: statistical considerations and gene mapping results2009 | Second Faculty of Medicine
