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- A novel variant in YWHAG further supports phenotype of developmental and epileptic encephalopathy2021 | 2. lékařská fakulta
- De novo SCN8A and inherited rare CACNA1H variants associated with severe developmental and epileptic encephalopathy2021 | 1. lékařská fakulta, 3. lékařská fakulta
- Aberrant Inclusion of a Poison Exon Causes Dravet Syndrome and Related SCN1A-Associated Genetic Epilepsies2018 | 2. lékařská fakulta
- Ultra-Rare Genetic Variation in the Epilepsies: A Whole-Exome Sequencing Study of 17,606 Individuals2019 | 2. lékařská fakulta
- Dystonia as a prominent presenting feature in developmental and epileptic encephalopathies: A case series2021 | 1. lékařská fakulta
- Distinct gene-set burden patterns underlie common generalized and focal epilepsies2021 | 2. lékařská fakulta
- A Recurrent Missense Variant in AP2M1 Impairs Clathrin-Mediated Endocytosis and Causes Developmental and Epileptic Encephalopathy2019 | 2. lékařská fakulta
- Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals2021 | Ústřední knihovna
- Neurodevelopmental and Epilepsy Phenotypes in Individuals With Missense Variants in the Voltage Sensing and Pore Domain of KCNH52023 | 2. lékařská fakulta
- Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications2022 | 2. lékařská fakulta