Publications
- The cause of hereditary hearing loss in GJB2 heterozygotes-a comprehensive study of the GJB2/DFNB1 region2021 | Second Faculty of Medicine
- Expanding the phenotype spectrum associated with pathogenic variants in the COL2A1 and COL11A1 genes2020 | Second Faculty of Medicine, Central Library of Charles University, First Faculty of Medicine
- Spectrum and frequencies of non GJB2 gene mutations in Czech patients with early non-syndromic hearing loss detected by gene panel NGS and whole-exome sequencing2020 | Second Faculty of Medicine, First Faculty of Medicine
- Variant c.2158-2A>G in MANBA is an important and frequent cause of hereditary hearing loss and beta-mannosidosis among the Czech and Slovak Roma population- evidence for a new ethnic-specific variant2020 | Second Faculty of Medicine
- STRC Gene Mutations, Mainly Large Deletions, are a Very Important Cause of Early-Onset Hereditary Hearing Loss in the Czech Population2018 | Second Faculty of Medicine
- Mutations in eight small DFNB genes are not a frequent cause of non-syndromic hereditary hearing loss in Czech patients2016 | Second Faculty of Medicine
- Anterior pallidal hyperintensity mimicking the eye of the tiger sign in spastic paraplegia type 72024 | Second Faculty of Medicine, First Faculty of Medicine, Faculty of Physical Education and Sport
- Genetic testing in children enrolled in epilepsy surgery program. A real-life study2023 | Second Faculty of Medicine, Central Library of Charles University
- A progressive KY myopathy could be caused by a missense pathogenic variant2023 | Second Faculty of Medicine
- SPG11: clinical and genetic features of seven Czech patients and literature review2022 | Second Faculty of Medicine, First Faculty of Medicine
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