- Adult-onset huntington disease phenocopies2009 | First Faculty of Medicine
- Pendred syndrome in patients with hypothyroidism: genetic diagnosis, phenotypic variability and occurence of phenocopies2008 | Second Faculty of Medicine, Third Faculty of Medicine, Faculty of Medicine in Hradec Králové
- Non-sarcomeric hypertrophic cardiomyopathies in adults2011 | First Faculty of Medicine
- Novel class of ZNF384 aberrations in acute leukemia2021 | Second Faculty of Medicine
- HLHS: Power of the Chick Model2022 | First Faculty of Medicine
- Metabolic subtypes of patients with NAFLD exhibit distinctive cardiovascular risk profiles2022 | First Faculty of Medicine
- Common presentation of rare diseases: Left ventricular hypertrophy and diastolic dysfunction2018 | First Faculty of Medicine
- Small Molecule Targets TMED9 and Promotes Lysosomal Degradation to Reverse Proteinopathy2019 | First Faculty of Medicine
- Molecular profiling of the vestibular lamina highlights a key role for Hedgehog signalling2023 | First Faculty of Medicine
- The Bmp signaling pathway regulates development of left-right asymmetry in amphioxusPublication without faculty affiliation
- Autoantibodies against type I IFNs in patients with life-threatening COVID-192020 | First Faculty of Medicine, Second Faculty of Medicine
- Hyper-IgE in the allergy clinic-when is it primary immunodeficiency?2018 | Second Faculty of Medicine
- AGC kinases and MAB4/MEL proteins maintain PIN polarity by limiting lateral diffusion in plant cells2021 | Faculty of Science
- Highly conserved nucleotide phosphatase essential for membrane lipid homeostasis in Streptococcus pneumoniae2016 | Faculty of Science
- Integrative role of the SALL4 gene: From thalidomide embryopathy to genetic defects of the upper limb, internal organs, cerebral midline, and pituitary2024 | Second Faculty of Medicine
- Pendred syndrome among patients with congenital hypothyroidism detected by neonatal screening: identification of two novel PDS/SLC26A4 mutations2008 | Second Faculty of Medicine, Third Faculty of Medicine
- Three-dimensional echocardiographic left ventricular strain analysis in Fabry disease: correlation with heart failure severity, myocardial scar, and impact on long-term prognosis2023 | First Faculty of Medicine
- Modern methods in diagnostics and research of molecular bases of rare diseases2018 | First Faculty of Medicine
- Care of patients with inborn errors of immunity in thirty J Project countries between 2004 and 20212022 | Second Faculty of Medicine