- A Recurrent VPS16 p.Arg187* Nonsense Variant in Early-Onset Generalized Dystonia2021 | First Faculty of Medicine
- Loss-of-Function Variants in HOPS Complex Genes VPS16 and VPS41 Cause Early Onset Dystonia Associated with Lysosomal Abnormalities2020 | First Faculty of Medicine
- Clinically relevant copy-number variants in exome sequencing data of patients with dystonia2021 | First Faculty of Medicine