Publications
- Biallelic VARS variants cause developmental encephalopathy with microcephaly that is recapitulated in vars knockout zebrafish2019 | Second Faculty of Medicine
- Diagnostic implications of genetic copy number variation in epilepsy plus2019 | Second Faculty of Medicine
- A Recurrent Missense Variant in AP2M1 Impairs Clathrin-Mediated Endocytosis and Causes Developmental and Epileptic Encephalopathy2019 | Second Faculty of Medicine
- Schinzel-Giedion Syndrome: First Czech Patients Confirmed by Molecular Genetic Analysis2019 | Second Faculty of Medicine
- Ultra-Rare Genetic Variation in the Epilepsies: A Whole-Exome Sequencing Study of 17,606 Individuals2019 | Second Faculty of Medicine
- Genetic heterogeneity in infantile spasms2019 | Second Faculty of Medicine
- Detection rate of causal variants in severe childhood epilepsy is highest in patients with seizure onset within the first four weeks of life2018 | Second Faculty of Medicine
- Genetic causes of epilepsy2018 | Second Faculty of Medicine
- De novo variants in neurodevelopmental disorders with epilepsy2018 | Second Faculty of Medicine
- HCN1 mutation spectrum: from neonatal epileptic encephalopathy to benign genera lized epilepsy and beyond2018 | Second Faculty of Medicine
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