Ruggeri, G. ., Timms, A. ., Cheng, C. ., Weiss, A. ., Kollros, P. ., Chapman, T. ., … Mirzaa, G. . (2018). Bi-allelic mutations of CCDC88C are a rare cause of severe congenital hydrocephalus. American Journal of Medical Genetics. Part A. https://doi.org/10.1002/ajmg.a.38592 (Original work published 2018)

Fry, A. ., Fawcett, K. ., Zelnik, N. ., Yuan, H. ., Thompson, B. ., Shemer-Meiri, L. ., … Pilz, D. . (2018). De novo mutations in GRIN1 cause extensive bilateral polymicrogyria. Brain : A Journal of Neurology. https://doi.org/10.1093/brain/awx358 (Original work published 2018)

Taylor, C. ., Smith, R. ., Lehman, C. ., Mitchel, M. ., Singer, K. ., Weaver, W. ., … Amemiya, A. . 16p11.2 Recurrent Deletion. (Original work published 1993)