- Massively Parallel Sequencing Detected a Mutation in the MFN2 Gene Missed by Sanger Sequencing Due to a Primer Mismatch on an SNP Site2016 | 2. lékařská fakulta
- Sekvenování nové generace2013 | 2. lékařská fakulta
- Autosomal recessive hereditary spastic paraplegia type SPG35 due to a novel variant in the FA2H gene in a Czech patient2019 | 2. lékařská fakulta
- Genetická etiologie onemocnění ledvin - přehled a kazuistiky ve světle masivního paralelního sekvenování2021 | 2. lékařská fakulta
- Novel MUC1 variant identified by massively parallel sequencing explains interstitial kidney disease in a large Dutch family2023 | 1. lékařská fakulta
- Improving diagnosis of inherited peripheral neuropathies through gene panel analysis2016 | 2. lékařská fakulta
- Two types of recessive hereditary spastic paraplegia in Roma patients in compound heterozygous state; no ethnically prevalent variant found2020 | 2. lékařská fakulta
- Two Novel Variants Affecting CDKL5 Transcript Associated with Epileptic Encephalopathy2017 | 2. lékařská fakulta
- TSC2 pathogenic variants are predictive of severe clinical manifestations in TSC infants: results of the EPISTOP study2020 | 2. lékařská fakulta