Publications
- Co-designing models for the communication of genomic results for rare diseases: a comparative study in the Czech Republic and the United Kingdom2022 | Second Faculty of Medicine, First Faculty of Medicine
- Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases2021 | Second Faculty of Medicine
- Solving unsolved rare neurological diseases-a Solve-RD viewpoint2021 | Second Faculty of Medicine
- Solving patients with rare diseases through programmatic reanalysis of genome-phenome data2021 | Second Faculty of Medicine
- Under the mask of Kabuki syndrome: Elucidation of genetic-and phenotypic heterogeneity in patients with Kabuki-like phenotype2018 | Second Faculty of Medicine
- Molecular genetic analysis in 14 Czech Kabuki syndrome patients is confirming the utility of phenotypic scoring2016 | Second Faculty of Medicine, First Faculty of Medicine, Faculty of Medicine in Hradec Králové, Faculty of Physical Education and Sport
- Expanded DMPK repeats in dizygotic twins referred for diagnosis of autism versus absence of expanded DMPK repeats at screening of 330 children with autism2016 | Second Faculty of Medicine
- Spliceosome malfunction causes neurodevelopmental disorders with overlapping features2024 | Second Faculty of Medicine
- Axenfeld-Rieger syndrome: more than meets the eye2023 | Second Faculty of Medicine, First Faculty of Medicine
- Long-term anatomical and functional outcomes of surgical treatment of retinal complications in children and adolescents with Stickler syndrome between 2004 and 20212023 | Second Faculty of Medicine
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