Publications
- Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases2021 | Second Faculty of Medicine
- Solving patients with rare diseases through programmatic reanalysis of genome-phenome data2021 | Second Faculty of Medicine
- Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia2020 | 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
- 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
- Speech Perception and Production in Cochlear Implant Recipients with Pendred Syndrome2021 | Second Faculty of Medicine, Third Faculty of Medicine, First Faculty of Medicine
- Stickler syndrome in the Czech Republic: phenotypic variability and genetic heterogeneity2021 | Second Faculty of Medicine
- Monozygotic twins with Legius syndrome and differential diagnosis of Legius syndrome and neurof bromatosis type 12021 | Second Faculty of Medicine
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