Publications
- POLRMT mutations impair mitochondrial transcription causing neurological disease2021 | First Faculty of Medicine, Faculty of Physical Education and Sport
- Autosomal-dominant adult neuronal ceroid lipofuscinosis caused by duplication in DNAJC5 initially missed by Sanger and whole-exome sequencing2020 | First Faculty of Medicine
- Rare copy number variation in extremely impulsively violent males2019 | First Faculty of Medicine, Central Library of Charles University, Faculty of Medicine in Pilsen
- Validation of CZECANCA (CZEch CAncer paNel for Clinical Application) for targeted NGS-based analysis of hereditary cancer syndromes2018 | First Faculty of Medicine
- Multiplex PCR and NGS-based identification of mRNA splicing variants: Analysis of BRCA1 splicing pattern as a model2017 | First Faculty of Medicine
- Heterozygous Loss-of-Function SEC61A1 Mutations Cause Autosomal-Dominant Tubulo-Interstitial and Glomerulocystic Kidney Disease with Anemia2016 | First Faculty of Medicine
- Hereditary truncating mutations of DNA repair and other genes in BRCA1/BRCA2/PALB2-negatively tested breast cancer patients2016 | First Faculty of Medicine
- Assembly of osteoblastic cell micro-arrays on diamond guided by protein pre-adsorption2010 | First Faculty of Medicine
- Detection of viral infections by an oligonucleotide microarray2010 | First Faculty of Medicine
- Rotor-type hyperbilirubinaemia has no defect in the canalicular bilirubin export pump2007 | First Faculty of Medicine, Third Faculty of Medicine
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