Publications
- ATAD3A-related pontocerebellar hypoplasia: new patients and insights into phenotypic variability2023 | First Faculty of Medicine
- Autosomal dominant Zellweger spectrum disorder caused by de novo variants in PEX14 gene2023 | First Faculty of Medicine
- A mutation in the SAA1 promoter causes hereditary amyloid A amyloidosis2022 | First Faculty of Medicine, Third Faculty of Medicine
- 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
- Autosomal-Dominant Corneal Endothelial Dystrophies CHED1 and PPCD1 Are Allelic Disorders Caused by Non-coding Mutations in the Promoter of OVOL22016 | 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
- Mutations in DNAJC5, Encoding Cysteine-String Protein Alpha, Cause Autosomal-Dominant Adult-Onset Neuronal Ceroid Lipofuscinosis2011 | First Faculty of Medicine
- Disruption of OVOL2 Distal Regulatory Elements as a Possible Mechanism Implicated in Corneal Endothelial Dystrophy2024 | First Faculty of Medicine, Second Faculty of Medicine
- Deleterious, protein-altering variants in the transcriptional coregulator ZMYM3 in 27 individuals with a neurodevelopmental delay phenotype2023 | First Faculty of Medicine
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