- Cyclin D1 splice site variant triggers chromosomal aberrations in healthy humans2014 | 1. lékařská fakulta, 2. lékařská fakulta
- Two Novel Variants Affecting CDKL5 Transcript Associated with Epileptic Encephalopathy2017 | 2. lékařská fakulta
- Comprehensive Assessment of BARD1 Messenger Ribonucleic Acid Splicing With Implications for Variant Classification2019 | 1. lékařská fakulta
- A rare large duplication of MLH1 identified in Lynch syndrome2021 | Lékařská fakulta v Plzni
- Dominant variants in the splicing factor PUF60 cause a recognizable syndrome with intellectual disability, heart defects and short stature2017 | 2. lékařská fakulta
- Phenotype Variability in Czech Patients Carrying PAX6 Disease-Causing Variants2020 | 1. lékařská fakulta
- Targeted sequencing and in vitro splice assays shed light on ABCA4-associated retinopathies missing heritability2023 | 1. lékařská fakulta
- A unique de novo gain-of-function variant in CAMK4 associated with intellectual disability and hyperkinetic movement disorder2018 | 1. lékařská fakulta
- Germline Variants of CYBA and TRPM4 Predispose to Familial Colorectal Cancer2022 | Lékařská fakulta v Plzni