- Parental gonadal but not somatic mosaicism leading to de novo NFIX variants shared by two brothers with Malan syndrome2019 | First Faculty of Medicine, Second Faculty of Medicine
- Deletions in the 3 ' Part of the NFIX Gene Including a Recurrent Alu-Mediated Deletion of Exon 6 and 7 Account for Previously Unexplained Cases of Marshall-Smith Syndrome2014 | Second Faculty of Medicine
