1. Letter regarding the article "Extending the phenotype of recurrent rearrangements of 16p11.2: Deletions in mentally retarded patients without autism and in normal individuals (Bijlsma et al., 2009)" and the diagnosis of coexisting Mowat–Wilson syndrome in a patient with 16p11.2 deletion;Amor D. J.;European Journal of Medical Genetics,2018
2. De novo variants in neurodevelopmental disorders‐experiences from a tertiary care center;Brunet, T., Jech, R., Brugger, M., Kovacs, R., Alhaddad, B., Leszinski, G., Riedhammer, K. M., Westphal, D. S., Mahle, I., Mayerhanser, K., Skorvanek, M., Weber, S., Graf, E., Berutti, R., Necpál, J., Havránková, P., Pavelekova, P., Hempel, M., Kotzaeridou, U., … Wagner, M.;Clinical Genetics,2021
3. ZFHX1B mutations in patients with Mowat‐Wilson syndrome;Dastot‐Le Moal, F., Wilson, M., Mowat, D., Collot, N., Niel, F., & Goossens, M.;Human Mutations,2007
4. ZEB2 zinc‐finger missense mutations lead to hypomorphic alleles and a mild Mowat–Wilson syndrome;Ghoumid J.;Human Molecular Genetics,2013
5. Phenotype and genotype of 87 patients with Mowat–Wilson syndrome and recommendations for care;Ivanovski I.;Genetics in Medicine,2018