- Novel de novo pathogenic variant in the GNAI1 gene as a cause of severe disorders of intellectual development2022 | Second Faculty of Medicine
- Adenylosuccinate lyase deficiency in a Czech girl and two siblings1994 | Second Faculty of Medicine
- Clinical, biochemical and molecular findings in seven Polish patients with adenylosuccinate lyase deficiency2008 | First Faculty of Medicine
- Fragile X chromosome syndrome and autism2013 | First Faculty of Medicine
- Measuring theory of mind in psychoses using the Rorschach methodPublication without faculty affiliation
- FOXP1-related intellectual disability syndrome: a recognisable entity2017 | Second Faculty of Medicine
- Long Term Follow-Up in a Patient with a De Novo Microdeletion of 14q11.2 Involving CHD82015 | Second Faculty of Medicine
- Attenuated Adenylosuccinate Lyase Deficiency: A Report of One Case and a Review of the Literature2014 | First Faculty of Medicine
- Case report of patients with a marker chromosome2004 | Second Faculty of Medicine
- A novel variant of C12orf4 in a consanguineous Armenian family confirms the etiology of autosomal recessive intellectual disability type 66 with delineation of the phenotype2019 | First Faculty of Medicine, Second Faculty of Medicine
- Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome2021 | First Faculty of Medicine
- Complex chromosomal rearrangement in the boy from the high-risk pregnancy - case reportPublication without faculty affiliation
- STXBP1 encephalopathy A neurodevelopmental disorder including epilepsy2016 | Second Faculty of Medicine
- Adenylosuccinate lyase deficiency2015 | First Faculty of Medicine
- Genetic and neurodevelopmental spectrum of SYNGAP1-associated intellectual disability and epilepsy2016 | Second Faculty of Medicine
- Combined Targeted and Untargeted Profiling of HeLa Cells Deficient in Purine De Novo Synthesis2022 | First Faculty of Medicine
- Genetic and metabolomic analysis of AdeD and AdeI mutants of de novo purine biosynthesis: Cellular models of de novo purine biosynthesis deficiency disorders2013 | First Faculty of Medicine
- 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 | First Faculty of Medicine, Second Faculty of Medicine
- Natural History Study of STXBP1-Developmental and Epileptic Encephalopathy Into Adulthood2022 | Publication without faculty affiliation