Publications
- Quality of life in patients with autosomal dominant tubulointerstitial kidney disease2019 | First Faculty of Medicine
- 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
- Hereditary truncating mutations of DNA repair and other genes in BRCA1/BRCA2/PALB2-negatively tested breast cancer patients2016 | First Faculty of Medicine
- Acadian variant of Fanconi syndrome is caused by mitochondrial respiratory chain complex I deficiency due to a non-coding mutation in complex I assembly factor NDUFAF62016 | First Faculty of Medicine
- Mutations in ANTXR1 Cause GAPO Syndrome2013 | First Faculty of Medicine
- Cerebellar dysfunction in a family harboring the PSEN1 mutation co-segregating with a Cathepsin D variant p.A58V2013 | First Faculty of Medicine
- Bi-allelic REN Mutations and Undetectable Plasma Renin Activity in a Patient With Progressive CKD2023 | First Faculty of Medicine
- A mutation in the SAA1 promoter causes hereditary amyloid A amyloidosis2022 | First Faculty of Medicine, Third Faculty of Medicine
- AGAL misprocessing-induced ER stress and the unfolded protein response: lysosomal storage-independent mechanism of Fabry disease pathogenesis?2022 | First Faculty of Medicine, Third Faculty of Medicine
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