Publications
- 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
- Phenylbutyrate rescues the transport defect of the Sec61α mutations V67G and T185A for renin2022 | First Faculty of Medicine
- Plasma Mucin-1 (CA15-3) Levels in Autosomal Dominant Tubulointerstitial Kidney Disease due to MUC1 Mutations2021 | First Faculty of Medicine, Faculty of Medicine in Pilsen
- Autosomal-dominant adult neuronal ceroid lipofuscinosis caused by duplication in DNAJC5 initially missed by Sanger and whole-exome sequencing2020 | First Faculty of Medicine
- Outcomes of patient self-referral for the diagnosis of several rare inherited kidney diseases2020 | First Faculty of Medicine
- Clinical and genetic spectra of autosomal dominant tubulointerstitial kidney disease due to mutations in UMOD and MUC12020 | First Faculty of Medicine
- Genetic and Clinical Predictors of Age of ESKD in Individuals With Autosomal Dominant Tubulointerstitial Kidney Disease Due to UMOD Mutations2020 | First Faculty of Medicine
- An international cohort study of autosomal dominant tubulointerstitial kidney disease due to REN mutations identifies distinct clinical subtypes2020 | 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
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