- Whole genome sequencing for USH2A-associated disease reveals several pathogenic deep-intronic variants that are amenable to splice correction2023 | First Faculty of Medicine
- Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics2020 | First Faculty of Medicine
- Clinical and genetic characteristics of two patients with tyrosinemia type 1 in Slovenia - A novel fumarylacetoacetate hydrolase (FAH) intronic disease-causing variant2022 | First Faculty of Medicine
- Targeted sequencing and in vitro splice assays shed light on ABCA4-associated retinopathies missing heritability2023 | First Faculty of Medicine
- Molecular genetic diagnosis of congenital contracture arachnodactyly and complex treatment of a Czech girl: a case study2023 | First Faculty of Medicine
- Xstir polymorphism and absence of sex linkage in Xenopus laevis ME2 gene.2003 | Publication without faculty affiliation
- MTDH genetic variants in colorectal cancer patients2016 | First Faculty of Medicine
- Genetic variations in NADPH-CYP450 oxidoreductase in a Czech Slavic cohort2015 | First Faculty of Medicine
- The TP53 gene promoter is not methylated in families suggestive of Li-Fraumeni syndrome with no germline TP53 mutations2009 | First Faculty of Medicine, Faculty of Physical Education and Sport, Second Faculty of Medicine
- The 12p13.33/RAD52 Locus and Genetic Susceptibility to Squamous Cell Cancers of Upper Aerodigestive Tract2015 | First Faculty of Medicine
- Investigation of common, low-frequency and rare genome-wide variation in anorexia nervosaPublication without faculty affiliation
- Screening of mutations and polymorphisms in the glucokinase gene in Czech diabetic and healthy control populations2008 | Third Faculty of Medicine
- Genetic variability in SQSTM1 and risk of early-onset Alzheimer dementia: a European early-onset dementia consortium study2015 | Third Faculty of Medicine, First Faculty of Medicine
- Two Novel Variants Affecting CDKL5 Transcript Associated with Epileptic Encephalopathy2017 | Second Faculty of Medicine
- A genome-wide association study of anorexia nervosa2014 | First Faculty of Medicine
- Association of Germline CHEK2 Gene Variants with Risk and Prognosis of Non-Hodgkin Lymphoma2015 | First Faculty of Medicine
- Diagnostic interest of whole-body MRI in early- and late-onset LAMA2 muscular dystrophies: a large international cohort2022 | Second Faculty of Medicine
- Homozygous carriers of the G allele of rs4664447 of the glucagon gene (GCG) are characterised by decreased fasting and stimulated levels of insulin, glucagon and glucagon-like peptide (GLP)-12011 | Third Faculty of Medicine, Second Faculty of Medicine
