Guo H, Duyzend MH, Coe BP, Baker C, Hoekzema K, Gerdts J, Turner TN, Zody MC, Beighley JS, Murali SC, Nelson BJ; University of Washington Center for Mendelian Genomics, Bamshad MJ, Nickerson DA, Bernier RA, Eichler EE. (2019). Genome sequencing identifies multiple deleterious variants in autism patients with more severe phenotypes. Genet Med Jul;21(7):1611-1620. Epub 2018 Dec 3.
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Clinical Presentation of a Complex Neurodevelopmental Disorder Caused by Mutations in ADNP
Van Dijck A, Vulto-van Silfhout AT, Cappuyns E, van der Werf IM, Mancini GM, Tzschach A, Bernier R, Gozes I, Eichler EE, Romano C, Lindstrand A, Nordgren A; ADNP Consortium, Kvarnung M, Kleefstra T, de Vries BBA, Küry S, Rosenfeld JA, Meuwissen ME, Vandeweyer G, Kooy RF. (2019). Clinical Presentation of a Complex Neurodevelopmental Disorder Caused by Mutations in ADNP. Biol Psychiatry Feb 15;85(4):287-297. Epub 2018 Mar 15.