Katalin Štěrbová
Charles University(CZ)University of Michigan(US)University Hospital in Motol(CZ)
Publications by Year
Research Areas
Genetics and Neurodevelopmental Disorders, Genomics and Rare Diseases, Epilepsy research and treatment, Genomic variations and chromosomal abnormalities, Metabolism and Genetic Disorders
Most-Cited Works
- → Synchronization as adjustment of information rates: Detection from bivariate time series(2001)335 cited
- → STXBP1 encephalopathy(2016)310 cited
- → Ultra-Rare Genetic Variation in the Epilepsies: A Whole-Exome Sequencing Study of 17,606 Individuals(2019)299 cited
- → The phenotypic spectrum of SCN8A encephalopathy(2015)283 cited
- → De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy(2015)268 cited
- → De Novo Loss-of-Function Mutations in CHD2 Cause a Fever-Sensitive Myoclonic Epileptic Encephalopathy Sharing Features with Dravet Syndrome(2013)220 cited
- → Genotype-phenotype correlations in -related disorders reveal prognostic and therapeutic implications