- Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases2019 | Third Faculty of Medicine
- GABBR1 monoallelic de novo variants linked to neurodevelopmental delay and epilepsy2022 | First Faculty of Medicine
- Complex cytogenetic and molecular genetic diagnostics of congenital heart defectsPublication without faculty affiliation
- Current challenges in understanding the role of enhancers in disease2022 | Second Faculty of Medicine
- Genetic testing in patients with hypertrophic cardiomyopathy2021 | Publication without faculty affiliation
- A polygenic resilience score moderates the genetic risk for schizophrenia2021 | Second Faculty of Medicine
- De novo mutations in the GTP/GDP-binding region of RALA, a RAS-like small GTPase, cause intellectual disability and developmental delay2018 | First Faculty of Medicine, Second Faculty of Medicine
- A unique de novo gain-of-function variant in CAMK4 associated with intellectual disability and hyperkinetic movement disorder2018 | First Faculty of Medicine