Mutairi, A. ., Alzahrani, F. ., Ababneh, F. ., Kashgari, A. ., & Alkuraya, F. . (2018). A Mendelian form of neural tube defect caused by a de novo null variant in SMARCC1 in an identical twin. Annals of Neurology. https://doi.org/10.1002/ana.25152 (Original work published 2018)

Wagner, M. ., Skorobogatko, Y. ., Pode-Shakked, B. ., Powell, C. ., Alhaddad, B. ., Seibt, A. ., … Distelmaier, F. . (2020). Bi-allelic Variants in RALGAPA1 Cause Profound Neurodevelopmental Disability, Muscular Hypotonia, Infantile Spasms, and Feeding Abnormalities. American Journal of Human Genetics, 106(2), 246-255. https://doi.org/10.1016/j.ajhg.2020.01.002 (Original work published 2020)