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Mefford HC, Batshaw ML, Hoffman EP. Genomics, intellectual disability, and autism. N Engl J Med. 2012; 366:733-743.","DOI":"10.1056\/NEJMra1114194"},{"key":"2","doi-asserted-by":"crossref","unstructured":"2. Neale BM, Kou Y, Liu L, et al. Patterns and rates of exonic de novo mutations in autism spectrum disorders. Nature. 2012; 485:242-245.","DOI":"10.1038\/nature11011"},{"key":"3","doi-asserted-by":"crossref","unstructured":"3. Deciphering Developmental Disorders Study. Prevalence and architecture of de novo mutations in developmental disorders. Nature. 2017; 542:433-438.","DOI":"10.1038\/nature21062"},{"key":"4","doi-asserted-by":"crossref","unstructured":"4. Najm J, Horn D, Wimplinger I, et al. Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum. Nat Genet. 2008; 40:1065-1067.","DOI":"10.1038\/ng.194"},{"key":"5","doi-asserted-by":"crossref","unstructured":"5. Piluso G, D'Amico F, Saccone V, Bismuto E, Rotundo IL, Di Domenico M, Aurino S, Schwartz CE, Neri G, Nigro V. A missense mutation in CASK causes FG syndrome in an Italian family. Am J Hum Genet. 2009; 84:162-177.","DOI":"10.1016\/j.ajhg.2008.12.018"},{"key":"6","doi-asserted-by":"crossref","unstructured":"6. Dunn P, Prigatano GP, Szelinger S, et al. A de novo splice site mutation in CASK causes FG syndrome-4 and congenital nystagmus. Am J Med Genet A. 2017; 173:611-617.","DOI":"10.1002\/ajmg.a.38069"},{"key":"7","doi-asserted-by":"crossref","unstructured":"7. Hackett A, Tarpey PS, Licata A, et al. CASK mutations are frequent in males and cause X-linked nystagmus and variable XLMR phenotypes. Eur J Hum Genet. 2010; 18:544-552.","DOI":"10.1038\/ejhg.2009.220"},{"key":"8","doi-asserted-by":"crossref","unstructured":"8. Saitsu H, Kato M, Osaka H, Moriyama N, Horita H, Nishiyama K, Yoneda Y, Kondo Y, Tsurusaki Y, Doi H, Miyake N, Hayasaka K, Matsumoto N. CASK aberrations in male patients with Ohtahara syndrome and cerebellar hypoplasia. Epilepsia. 2012; 53:1441-1449.","DOI":"10.1111\/j.1528-1167.2012.03548.x"},{"key":"9","doi-asserted-by":"crossref","unstructured":"9. Nakamura K, Nishiyama K, Kodera H, Nakashima M, Tsurusaki Y, Miyake N, Matsumoto N, Saitsu H, Jinnou H, Ohki S, Yokochi K, Okanishi T, Enoki H. A de novo CASK mutation in pontocerebellar hypoplasia type 3 with early myoclonic epilepsy and tetralogy of Fallot. Brain Dev. 2014; 36:272-273.","DOI":"10.1016\/j.braindev.2013.03.007"},{"key":"10","doi-asserted-by":"crossref","unstructured":"10. Nakajiri T, Kobayashi K, Okamoto N, Oka M, Miya F, Kosaki K, Yoshinaga H. Late-onset epileptic spasms in a female patient with a CASK mutation. Brain Dev. 2015; 37:919-923.","DOI":"10.1016\/j.braindev.2015.02.007"},{"key":"11","doi-asserted-by":"crossref","unstructured":"11. Shimojima K, Okamoto N, Yamamoto T. A novel TUBB3 mutation in a sporadic patient with asymmetric cortical dysplasia. Am J Med Genet A. 2016; 170:1076-1079.","DOI":"10.1002\/ajmg.a.37545"},{"key":"12","doi-asserted-by":"crossref","unstructured":"12. Shimada S, Okamoto N, Ito M, Arai Y, Momosaki K, Togawa M, Maegaki Y, Sugawara M, Shimojima K, Osawa M, Yamamoto T. MECP2 duplication syndrome in both genders. Brain Dev. 2013; 35:411-419.","DOI":"10.1016\/j.braindev.2012.07.010"},{"key":"13","doi-asserted-by":"crossref","unstructured":"13. Ito H, Tani I, Yukihiro R, Adachi J, Hara K, Ogasawara M, Inoue M, Kamio Y, Nakamura K, Uchiyama T, Ichikawa H, Sugiyama T, Hagiwara T, Tsujii M. Validation of an interview-based rating scale developed in Japan for pervasive developmental disorders. Res Autism Spectr Disord. 2012; 6:1265-1272.","DOI":"10.1016\/j.rasd.2012.04.002"},{"key":"14","doi-asserted-by":"crossref","unstructured":"14. Aoki S, Hashimoto K, Ikeda N, Takekoh M, Fujiwara T, Morisaki N, Mezawa H, Tachibana Y, Ohya Y. 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