- The Human Phenotype Ontology in 2024: phenotypes around the world2024 | Second Faculty of Medicine
- A Recurrent Missense Variant in AP2M1 Impairs Clathrin-Mediated Endocytosis and Causes Developmental and Epileptic Encephalopathy2019 | Second Faculty of Medicine
- International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases2017 | Second Faculty of Medicine
- De novo variants in neurodevelopmental disorders-experiences from a tertiary care center2021 | First Faculty of Medicine
- Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individuals2023 | Second Faculty of Medicine