Publications
- Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals2021 | Central Library of Charles University
- Clinical features and blood iron metabolism markers in children with beta-propeller protein associated neurodegeneration2020 | First Faculty of Medicine, Second Faculty of Medicine
- De Novo Heterozygous POLR2A Variants Cause a Neurodevelopmental Syndrome with Profound Infantile-Onset Hypotonia2019 | Second Faculty of Medicine
- Ultra-Rare Genetic Variation in the Epilepsies: A Whole-Exome Sequencing Study of 17,606 Individuals2019 | Second Faculty of Medicine
- Missense Mutations in NKAP Cause a Disorder of Transcriptional Regulation Characterized by Marfanoid Habitus and Cognitive Impairment2019 | Second Faculty of Medicine
- Delece 2q13 u pacienta s Marfanovým syndromem2017 | First Faculty of Medicine, Faculty of Physical Education and Sport, Second Faculty of Medicine, Faculty of Science
- Two Novel Variants Affecting CDKL5 Transcript Associated with Epileptic Encephalopathy2017 | Second Faculty of Medicine
- Molecular genetic analysis in 14 Czech Kabuki syndrome patients is confirming the utility of phenotypic scoring2016 | First Faculty of Medicine, Faculty of Physical Education and Sport, Second Faculty of Medicine, Faculty of Medicine in Hradec Králové
- A patient showing features of both SBBYSS and GPS supports the concept of a KAT6B-related disease spectrum, with mutations in mid-exon 18 possibly leading to combined phenotypes2015 | First Faculty of Medicine, Second Faculty of Medicine
- HCFC1 loss-of-function mutations disrupt neuronal and neural progenitor cells of the developing brain2015 | Second Faculty of Medicine
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