- Novel SAMD9 Mutation in a Patient With Immunodeficiency, Neutropenia, Impaired Anti-CMV Response, and Severe Gastrointestinal Involvement2019 | First Faculty of Medicine, Second Faculty of Medicine
- Clinical evolution, genetic landscape and trajectories of clonal hematopoiesis in SAMD9/SAMD9L syndromes2021 | Second Faculty of Medicine
- Spontaneous remission and loss of monosomy 7: a window of opportunity for young children with SAMD9L syndrome2024 | Second Faculty of Medicine