- Refining clinical phenotypes in septo-optic dysplasia based on MRI findings2008 | Third Faculty of Medicine, Second Faculty of Medicine
- ALG3-CDG: a patient with novel variants and review of the genetic and ophthalmic findings2021 | First Faculty of Medicine
- Septo-optic dysplasia: Less common cause of hypopituitarism2002 | Third Faculty of Medicine
- Dominant variants in the splicing factor PUF60 cause a recognizable syndrome with intellectual disability, heart defects and short stature2017 | Second Faculty of Medicine