- Under the mask of Kabuki syndrome: Elucidation of genetic-and phenotypic heterogeneity in patients with Kabuki-like phenotype2018 | Second Faculty of Medicine
- Assembly of the U5 snRNP component PRPF8 is controlled by the HSP90/R2TP chaperones2017 | Faculty of Science
- Clinically relevant copy-number variants in exome sequencing data of patients with dystonia2021 | First Faculty of Medicine
