- Thiopurine intolerance-causing mutations in NUDT15 induce temperature-dependent destabilization of the catalytic site2019 | Faculty of Science
- Brittle cornea syndrome: Disease-causing mutations in ZNF469 and two novel variants identified in a patient followed for 26 years2020 | First Faculty of Medicine
- Brittle cornea syndrome : Disease-causing mutations in ZNF469 and two novel variants identified in a patient followed for 26 years2020 | First Faculty of Medicine
- Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes2017 | Second Faculty of Medicine
- Structural basis of the pleiotropic and specific phenotypic consequences of missense mutations in the multifunctional NAD(P)H:quinone oxidoreductase 1 and their pharmacological rescue2021 | Central Library of Charles University, Faculty of Science
- Bilineal inheritance of pathogenic PKD1 and PKD2 variants in a Czech family with autosomal dominant polycystic kidney disease - a case report2018 | First Faculty of Medicine
- The Deep Intronic c.903+469T > C Mutation in the MTRR Gene Creates an SF2/ASF Binding Exonic Splicing Enhancer, Which Leads to Pseudoexon Activation and Causes the cbIE Type of Homocystinuria2010 | First Faculty of Medicine
- Microdeletion Syndromes2006 | Publication without faculty affiliation
- Microdeletion Syndromes2006 | First Faculty of Medicine, Faculty of Physical Education and Sport
- Microdeletion Syndromes2006 | Second Faculty of Medicine
- Genetic variation screening of TNNT2 Gene in a cohort of patients with hypertrophic and dilated cardiomyopathy2012 | First Faculty of Medicine
- Mucopolysaccharidosis Type I in 21 Czech and Slovak Patients: Mutation Analysis Suggests a Functional Importance of C-Terminus of the IDUA Protein2009 | First Faculty of Medicine
- Highly preferential association of NonF508del CF mutations with the M470 allele2007 | Second Faculty of Medicine
- Mutational spectrum of steroid 21-hydroxylase and the genotype-phenotype association in Middle European patients with congenital adrenal hyperplasia2005 | Third Faculty of Medicine
- Distribution of CFTR mutations in Eastern Hungarians: Relevance to genetic testing and to the introduction of newborn screening for cystic fibrosis2011 | Second Faculty of Medicine
- A high frequency of the Cystic Fibrosis 2184insA mutation in Western Ukraine: Genotype-phenotype correlations, relevance for newborn screening and genetic testing2010 | Second Faculty of Medicine
- Clinical Phenotype and Genotype of Children with Borderline Sweat Test and Abnormal Nasal Epithelial Chloride Transport2010 | Second Faculty of Medicine
- Rectal organoid morphology analysis (ROMA) as a promising diagnostic tool in cystic fibrosis2021 | Second Faculty of Medicine
- Novel variants in the NARS2 gene as a cause of infantile-onset severe epilepsy leading to fatal refractory status epilepticus: case study and literature review2021 | First Faculty of Medicine, Second Faculty of Medicine
- Genetic Testing in the Management of Relatives of Patients with Hypertrophic Cardiomyopathy2014 | Third Faculty of Medicine, Central Library of Charles University
- DNA Analysis of Renal Electrolyte Transporter Genes Among Patients Suffering from Bartter and Gitelman Syndromes - Summary of Mutation Screening2011 | First Faculty of Medicine
- A Century of Progress on Wilson Disease and the Enduring Challenges of Genetics, Diagnosis, and Treatment2023 | First Faculty of Medicine
- The current role of next-generation DNA sequencing in routine care of patients with hereditary cardiovascular conditions: a viewpoint paper of the European Society of Cardiology working group on myocardial and pericardial diseases and members of the European Society of Human Genetics2015 | First Faculty of Medicine
- Diagnostics of cystic fibrosis in adults2016 | First Faculty of Medicine, Faculty of Physical Education and Sport, Second Faculty of Medicine, Faculty of Medicine in Pilsen, Faculty of Medicine in Hradec Králové
- High Prevalence of Posterior Polymorphous Corneal Dystrophy in the Czech Republic; Linkage Disequilibrium Mapping and Dating an Ancestral Mutation2012 | First Faculty of Medicine
- Familial mild hyperglycemia associated with a novel ABCC8-V84I mutation within three generations2011 | Third Faculty of Medicine, Second Faculty of Medicine
- NBN 657del5 heterozygous mutations and colorectal cancer risk in the Czech Republic2009 | First Faculty of Medicine, Third Faculty of Medicine, Second Faculty of Medicine
- Age and origin of major Smith-Lemli-Opitz syndrome (SLOS) mutations in European populations2008 | Second Faculty of Medicine
- Iron status in patients with pyruvate kinase deficiency: neonatal hyperferritinaemia associated with a novel frameshift deletion in the PKLR gene (p.Arg518fs), and low hepcidin to ferritin ratios2014 | Publication without faculty affiliation
- Mutations in PNPLA6 are linked to photoreceptor degeneration and various forms of childhood blindness2015 | First Faculty of Medicine