- Lessons from whole-exome sequencing in MODYX families2014 | Second Faculty of Medicine
- NFKB2 Mutation Diagnosed by Whole Exome Sequencing (WES) in a Patient with Complex Phenotype and Hypogammaglobulinemia2019 | Second Faculty of Medicine
- Whole Exome Sequencing of Epithelial Ovarian Carcinomas Differing in Resistance to Platinum Therapy2022 | First Faculty of Medicine, Second Faculty of Medicine, Faculty of Medicine in Pilsen, Third Faculty of Medicine
- Twist exome capture allows for lower average sequence coverage in clinical exome sequencingPublication without faculty affiliation
- Exome sequencing improves the molecular diagnostics of paediatric unexplained neurodevelopmental disorders2024 | Second Faculty of Medicine
- Predictors of whole exome sequencing in dystonic cerebral palsy and cerebral palsy-like disorders2023 | First Faculty of Medicine
- Exome sequencing reveals IFT172 variants in patients with non-syndromic cholestatic liver disease2023 | First Faculty of Medicine, Second Faculty of Medicine, Central Library of Charles University, Third Faculty of Medicine
- Yield of exome sequencing in patients with developmental and epileptic encephalopathies and inconclusive targeted gene panel2024 | Second Faculty of Medicine
- Whole exome sequencing identifies novel germline variants of SLC15A4 gene as potentially cancer predisposing in familial colorectal cancer2022 | Faculty of Medicine in Pilsen
- Genome-wide variant calling in reanalysis of exome sequencing data uncovered a pathogenic TUBB3 variant2022 | Second Faculty of Medicine
- Whole Exome Sequencing Identifies APCDD1 and HDAC5 Genes as Potentially Cancer Predisposing in Familial Colorectal Cancer2021 | Faculty of Medicine in Pilsen
- Diagnostic Utility of Exome Sequencing for Kidney Disease2019 | First Faculty of Medicine
- A unique case of Bloom syndrome with a combination of genetic hits: A lesson from trio-based exome sequencing: A case report2023 | Second Faculty of Medicine
- Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing2012 | First Faculty of Medicine
- Whole-Exome Sequencing in Czech Patients with Neurogenetic Diseases2020 | Second Faculty of Medicine
- Exome sequencing for identification of disease genes for rare syndromes. Experiences from Hamburg2014 | Second Faculty of Medicine
- Molecular diversity of combined and complex dystonia: insights from diagnostic exome sequencing2017 | First Faculty of Medicine
- Whole Exome Sequencing Analysis of ABCC8 and ABCD2 Genes Associating With Clinical Course of Breast Carcinoma2015 | First Faculty of Medicine, Faculty of Medicine in Pilsen
- Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness2020 | Second Faculty of Medicine
- Clinically relevant copy-number variants in exome sequencing data of patients with dystonia2021 | First Faculty of Medicine
- Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals2021 | Central Library of Charles University
- Whole-Exome Sequencing Identifies a Novel Germline Variant in PTK7 Gene in Familial Colorectal Cancer2022 | Faculty of Medicine in Pilsen
- Ultra-Rare Genetic Variation in the Epilepsies: A Whole-Exome Sequencing Study of 17,606 Individuals2019 | Second Faculty of Medicine
- Population-based identity-by-descent mapping combined with exome sequencing to detect rare risk variants for schizophrenia2019 | Second Faculty of Medicine
- Whole Exome Sequencing of Aberrant Plasma Cells in a Patient with Multiple Myeloma Minimal Residual Disease2017 | Publication without faculty affiliation
- A MT-TL1 variant identified by whole exome sequencing in an individual with intellectual disability, epilepsy, and spastic tetraparesis2021 | Second Faculty of Medicine
- Whole-exome sequencing identifies rare pathogenic variants in new predisposition genes for familial colorectal cancer2015 | First Faculty of Medicine
- Exome Sequencing of Paired Colorectal Carcinomas and Synchronous Liver Metastases for Prognosis and Therapy Prediction2023 | First Faculty of Medicine, Faculty of Medicine in Pilsen
- Diagnostic exome sequencing in early-onset Parkinson's disease confirms VPS13C as a rare cause of autosomal-recessive Parkinson's disease2018 | First Faculty of Medicine
- Prognostic potential of whole exome sequencing in the clinical management of metachronous colorectal cancer liver metastases2023 | Faculty of Medicine in Pilsen