Publications
- Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications2022 | Second Faculty of Medicine
- Clinical features and blood iron metabolism markers in children with beta-propeller protein associated neurodegeneration2020 | First Faculty of Medicine, Second Faculty of Medicine
- Prot2HG: a database of protein domains mapped to the human genome2020 | Second Faculty of Medicine
- HMSN Lom in 12 Czech patients, with one unusual case due to uniparental isodisomy of chromosome 82017 | First Faculty of Medicine, Second Faculty of Medicine, Faculty of Physical Education and Sport
- Hereditary neuropathy +12015 | Second Faculty of Medicine
- Czech family confirms the link between FBLN5 and Charcot-Marie-Tooth type 1 neuropathy2013 | Second Faculty of Medicine
- A 5-year-old boy with super-refractory status epilepticus and RANBP2 variant warranting life-saving hemispherotomy2024 | Second Faculty of Medicine, Central Library of Charles University
- Yield of exome sequencing in patients with developmental and epileptic encephalopathies and inconclusive targeted gene panel2024 | Second Faculty of Medicine
- Neurodevelopmental and Epilepsy Phenotypes in Individuals With Missense Variants in the Voltage Sensing and Pore Domain of KCNH52023 | Second Faculty of Medicine
- Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individuals2023 | Second Faculty of Medicine
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