- An effective combination of sanger and next generation sequencing in diagnostics of primary ciliary dyskinesia2016 | Second Faculty of Medicine
- Ověření nálezu změn metylace z analýzy MS-MLPA metodou přímé Sangerovy sekvenace po bisulfitové konverzi - využití v klinické laboratoři, výhody a limitace metody2022 | Second Faculty of Medicine
- Ověření nálezu změn metylace z analýzy MS-MLPA metodou přímé Sangerovy sekvenace po bisulfitové konverzi – optimalizace pro diagnostiku2023 | Second Faculty of Medicine
- Massively Parallel Sequencing Detected a Mutation in the MFN2 Gene Missed by Sanger Sequencing Due to a Primer Mismatch on an SNP Site2016 | Second Faculty of Medicine
- Autosomal-dominant adult neuronal ceroid lipofuscinosis caused by duplication in DNAJC5 initially missed by Sanger and whole-exome sequencing2020 | First Faculty of Medicine
- Direct 16S/18S rRNA Gene PCR Followed by Sanger Sequencing as a Clinical Diagnostic Tool for Detection of Bacterial and Fungal Infections: a Systematic Review and Meta-Analysis2023 | Second Faculty of Medicine
- Genetic diagnosis of steroid-resistant nephrotic syndrome in a longitudinal collection of Czech and Slovak patients: a high proportion of causative variants in NUP932018 | Second Faculty of Medicine
- The curious case of Cladonia luteoalba: No support for its distinction2022 | Faculty of Science
- Molecular genetic analysis in 14 Czech Kabuki syndrome patients is confirming the utility of phenotypic scoring2016 | Second Faculty of Medicine, First Faculty of Medicine, Faculty of Physical Education and Sport, Faculty of Medicine in Hradec Králové
- Lack of PRKD2 and PRKD3 kinase domain somatic mutations in PRKD1 wild-type classic polymorphous low-grade adenocarcinomas of the salivary gland2016 | Faculty of Medicine in Pilsen
- A rational approach to the CNS tumors diagnostics2022 | Second Faculty of Medicine
- Evaluating amplicon high-throughput sequencing data of microalgae living in melting snow: improvements and limitations2019 | Faculty of Science
- Genetic etiology of kidney disease - overview and case studies in accordance with massive parallel sequencing2021 | Second Faculty of Medicine
- Congenital fibrosis of the extraocular muscles in a Czech family and its molecular genetic cause2019 | Second Faculty of Medicine, First Faculty of Medicine
- Hereditary gelsolin amyloidosis - clinical symptoms and molecular genetic cause2021 | First Faculty of Medicine
- Molecular genetic cause of achromatopsia in two patients of Czech origin2019 | Central Library of Charles University, First Faculty of Medicine
- Clinical and functional importance of selected CASP8 and CASP9 polymorphisms in breast carcinoma2016 | Second Faculty of Medicine, Central Library of Charles University, First Faculty of Medicine, Third Faculty of Medicine
- Low frequency of DNMT3A mutations in pediatric AML, and the identification of the OCI-AML3 cell line as an in vitro model2012 | Second Faculty of Medicine
- Martin7: a reference database of DNA barcodes for European epiphytic lichens and its taxonomic implications2023 | Faculty of Science, Central Library of Charles University
- Rapid classification of unknown biological material using a novel triplex assay2017 | Second Faculty of Medicine
- The Quantification of Representative Sequences pipeline for amplicon sequencing: case study on within-population ITS1 sequence variation in a microparasite infecting Daphnia2015 | Faculty of Science
- The role of acid-labile subunit (Als) in aetiology and diagnostic procedures of short stature2020 | Second Faculty of Medicine
- Comparative study of TERT gene mutation analysis on voided liquid-based urine cytology and paraffin-embedded tumorous tissue2016 | Faculty of Medicine in Pilsen, Central Library of Charles University
- Comparison of molecular diagnostic approaches for the detection and differentiation of the intestinal protist Blastocystis sp. in humans2022 | Second Faculty of Medicine
- The utility of massively parallel sequencing for posterior polymorphous corneal dystrophy type 3 molecular diagnosis2019 | First Faculty of Medicine, Third Faculty of Medicine
- Evaluation of two approaches to genotyping major histocompatibility complex class I in a passerine-CE-SSCP and 454 pyrosequencing2012 | Faculty of Science
- HK1 haemolytic anaemia in association with a neurological phenotype and co-existing CEP290 Meckel-Gruber in a Romani family2022 | Central Library of Charles University
- Disease-Causing Variants in the ATL1 Gene Are a Rare Cause of Hereditary Spastic Paraplegia among Czech Patients2017 | Second Faculty of Medicine
- Exploring the environmental diversity of kinetoplastid flagellates in the high-throughput DNA sequencing era2015 | Faculty of Science
- Schinzel-Giedion Syndrome: First Czech Patients Confirmed by Molecular Genetic Analysis2019 | Second Faculty of Medicine