Börklü A et al.A New Family with a Novel OTUD6B Mutation: Practicing Whole Exome Sequencing for Antenatal Diagnosis of Tetralogy of Fallot. Mol Syndromol. 2022;13(3):206-211. PMID: 35707595.
Cingöz S et al.Novel biallelic variants affecting the OTU domain of the gene OTUD6B associate with severe intellectual disability syndrome and molecular dynamics simulations.Eur J Med Genet. 2022;65(6):104497. PMID: 35430327.
Santiago-Sim T et al.Biallelic variants in OTUD6B cause an intellectual disability syndrome associated with seizures and dysmorphic features.Am J Hum Genet.2017;100(4):676-688. PMID: 28343629.
