- Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes2023 | First Faculty of Medicine
- Functional Analyses of HNF1A-MODY Variants Refine the Interpretation of Identified Sequence Variants2020 | Second Faculty of Medicine
- Comprehensive Assessment of BARD1 Messenger Ribonucleic Acid Splicing With Implications for Variant Classification2019 | First Faculty of Medicine
- Determination of anti-deamidated gliadin/anti-tissue transglutaminase antibodies in patients with anti-gliadin and anti-cow's milk antibodiesPublication without faculty affiliation
- Ovarian cancer pathology characteristics as predictors of variant pathogenicity in BRCA1 and BRCA22023 | First Faculty of Medicine
- Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsia2022 | First Faculty of Medicine
- Familial short stature - a novel phenotype of growth plate collagenopathies2021 | Second Faculty of Medicine
- Clinical utility of FLNC variants identified in 4 young Czech people with sudden cardiac arrest for clinical management of their at risk relatives2019 | Second Faculty of Medicine
- Bicuspid aortic valve: a pilot candidate gene-based approach in a representative Czech cohor2020 | Second Faculty of Medicine
- 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, Faculty of Physical Education and Sport, Central Library of Charles University, Faculty of Medicine in Pilsen, Third Faculty of Medicine, Faculty of Medicine in Hradec Králové
- Analysis of children with familial short stature: who should be indicated for genetic testing?2023 | Second Faculty of Medicine
- Neurodevelopmental and Epilepsy Phenotypes in Individuals With Missense Variants in the Voltage Sensing and Pore Domain of KCNH52023 | Second Faculty of Medicine
- The genetic landscape of children born small for gestational age with persistent short stature (SGA-SS)2024 | Second Faculty of Medicine