Publikace
- Ectopic GRHL2 Expression Due to Non-coding Mutations Promotes Cell State Transition and Causes Posterior Polymorphous Corneal Dystrophy 42018 | 1. lékařská fakulta, 3. lékařská fakulta
- De novo mutations in the GTP/GDP-binding region of RALA, a RAS-like small GTPase, cause intellectual disability and developmental delay2018 | 1. lékařská fakulta, 2. lékařská fakulta
- Validation of CZECANCA (CZEch CAncer paNel for Clinical Application) for targeted NGS-based analysis of hereditary cancer syndromes2018 | 1. lékařská fakulta
- Clinical manifestations and molecular aspects of phosphoribosylpyrophosphate synthetase superactivity in females2018 | 1. lékařská fakulta
- Thymidine kinase 2 and alanyl-tRNA synthetase 2 deficiencies cause lethal mitochondrial cardiomyopathy: case reports and review of the literature2017 | 1. lékařská fakulta, 2. lékařská fakulta
- Analysis of 31-year-old patient with SYNGAP1 gene defect points to importance of variants in broader splice regions and reveals developmental trajectory of SYNGAP1-associated phenotype: case report2017 | 1. lékařská fakulta, 2. lékařská fakulta
- Multiplex PCR and NGS-based identification of mRNA splicing variants: Analysis of BRCA1 splicing pattern as a model2017 | 1. lékařská fakulta
- Heterozygous deletions at the ZEB1 locus verify haploinsufficiency as the mechanism of disease for posterior polymorphous corneal dystrophy type 32016 | 1. lékařská fakulta, 2. lékařská fakulta
- Rare variants in known and novel candidate genes predisposing to statin-associated myopathy2016 | 1. lékařská fakulta, Ústřední knihovna
- Large Copy-Number Variations in Patients With Statin-Associated Myopathy Affecting Statin Myopathy-Related Loci2016 | 1. lékařská fakulta, Ústřední knihovna
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