Publications
- Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders2020 | 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 | Second Faculty of Medicine, First Faculty of Medicine
- Teaching a difficult topic using a problem-based concept resembling a computer game: development and evaluation of an e-learning application for medical molecular genetics2019 | Second Faculty of Medicine, Faculty of Science
- Association of 17q24.2-q24.3 deletions with recognizable phenotype and short telomeres2018 | Second Faculty of Medicine
- Molecular Cytogenetic Diagnostics of Marker Chromosomes: Analysis in Four Prenatal Cases and Long-Term Clinical Evaluation of Carriers2018 | Second 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 | Second Faculty of Medicine, First Faculty of Medicine
- HCFC1 loss-of-function mutations disrupt neuronal and neural progenitor cells of the developing brain2015 | Second Faculty of Medicine
- A patient with de novo 0.45Mb deletion of 2p16.1: The role of BCL11A, PAPOLG, REL, and FLJ16341 in the 2p15-p16.1 microdeletion syndrome2013 | Second Faculty of Medicine
- Spliceosome malfunction causes neurodevelopmental disorders with overlapping features2024 | Second Faculty of Medicine
- Lessons from two series by physicians and caregivers' self-reported data in DDX3X-related disorders2024 | Second Faculty of Medicine
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