- TSC2 pathogenic variants are predictive of severe clinical manifestations in TSC infants: results of the EPISTOP study2020 | 2. lékařská fakulta
- Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes2023 | 1. lékařská fakulta
- Two novel variants of the MBTPS1 gene in Czech family with Kondo-Fu type spondyloepiphyseal dysplasia and cataract2023 | 1. lékařská fakulta, 2. lékařská fakulta
- Two Novel Variants Affecting CDKL5 Transcript Associated with Epileptic Encephalopathy2017 | 2. lékařská fakulta
- Do GWAS-Identified Risk Variants for Chronic Lymphocytic Leukemia Influence Overall Patient Survival and Disease Progression?2023 | Lékařská fakulta v Plzni
- Novel Splicing Variant in the PMM2 Gene in a Patient With PMM2-CDG Syndrome Presenting With Pericardial Effusion: A Case Report2020 | 1. 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
- Beyond GWAS of Colorectal Cancer: Evidence of Interaction with Alcohol Consumption and Putative Causal Variant for the 10q24.2 Region2022 | 1. lékařská fakulta, Lékařská fakulta v Plzni