- GnRH receptor mutationa in idiopathic hypogonadotroopic hypogonadism (IHH): Impact of clinical subphenotyping and mode of inheritancePublication without faculty affiliation
- Prevalence, phenotypic spectrum, and modes of inheritance of gonadotropin-releasing hormone receptor mutations in idiopathic hypogonadotropic hypogonadism.2001 | Faculty of Medicine in Pilsen
- Blood DNA methylation provides an accurate biomarker of KMT2B-related dystonia and predicts onset2022 | First Faculty of Medicine
- Wilson's disease2011 | Faculty of Medicine in Hradec Králové
- Successful use of pulsatile gonadotropin-releasing hormone (GnRH) pregnancy in a patient with GnRH receptor mutations2000 | Faculty of Medicine in Pilsen
- Late onset of inherited urea cycle disorder - ornithine transcarbamoylase deficiency2016 | First Faculty of Medicine
- Genetic testing in idiopathic epileptic syndromes and epileptic encephalopathies - part I2012 | Second Faculty of Medicine
- Severe familial hypercholesterolemia treatment2016 | Faculty of Medicine in Hradec Králové, First Faculty of Medicine
- Psychosocial factors associated with genetic testing for some of hereditary forms of cancer2003 | First Faculty of Medicine, Faculty of Physical Education and Sport, Second Faculty of Medicine
- Genetics of hereditary spastic paraplegias2019 | Second Faculty of Medicine
- Monogenic form of autoimmune diabetes as a part of dysregulation of immune system2018 | Second Faculty of Medicine
- Genetics of schizophrenia: A consensus paper of the WFSBP Task Force on Genetics2017 | Faculty of Medicine in Hradec Králové
- Noonan syndrome and other RASopathies: Aetiology, diagnostic procedures and therapy2020 | Second Faculty of Medicine
- Association Screening in the Epidermal Differentiation Complex (EDC) Identifies an SPRR3 Repeat Number Variant as a Risk Factor for Eczema2011 | Second Faculty of Medicine
- Autosomal dominant Zellweger spectrum disorder caused by de novo variants in PEX14 gene2023 | First Faculty of Medicine
- Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene2006 | First Faculty of Medicine
- High frequency of SH3TC2 mutations in Czech HMSN I patients2011 | Second Faculty of Medicine
- De novo mutations of GCK, HNF1A and HNF4A may be more frequent in MODY than previously assumed2014 | First Faculty of Medicine, Faculty of Physical Education and Sport, Second Faculty of Medicine
- A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing2023 | Second Faculty of Medicine
- A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencingPublication without faculty affiliation
- Genetic diagnosis of steroid-resistant nephrotic syndrome in a longitudinal collection of Czech and Slovak patients: a high proportion of causative variants in NUP932018 | Second Faculty of Medicine
- Plastid capture and resultant fitness costs of hybridization in the Hirta clade of southern African Oxalis2018 | Faculty of Science
- Whole Genome Sequencing Prioritizes CHEK2, EWSR1, and TIAM1 as Possible Predisposition Genes for Familial Non-Medullary Thyroid Cancer2021 | Faculty of Medicine in Pilsen
- Amelogenesis imperfecta: Next-generation sequencing sheds light on Witkop's classification2023 | Second Faculty of Medicine