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De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype.
Shashi V, Pena LDM, Kim K, Burton B, Hempel M, Schoch K, Walkiewicz M, McLaughlin HM, Cho M, Stong N, Hickey SE, Shuss CM; Undiagnosed Diseases Network; Freemark MS, Bellet JS, Keels MA, Bonner MJ, El-Dairi M, Butler M, Kranz PG, Stumpel CTRM, Klinkenberg S, Oberndorff K, Alawi M, Santer R, Petrovski S, Kuismin O, Korpi-Heikkilä S, Pietilainen O, Aarno P, Kurki MI, Hoischen A, Need AC, Goldstein DB, Kortüm F. Shashi V, et al. Among authors: need ac. Am J Hum Genet. 2017 Jan 5;100(1):179. doi: 10.1016/j.ajhg.2016.12.004. Am J Hum Genet. 2017. PMID: 28061364 Free PMC article. No abstract available.
Genome-wide tagging for everyone.
Need AC, Goldstein DB. Need AC, et al. Nat Genet. 2006 Nov;38(11):1227-8. doi: 10.1038/ng1106-1227. Nat Genet. 2006. PMID: 17072295 No abstract available.
Common genetic variation and performance on standardized cognitive tests.
Cirulli ET, Kasperaviciūte D, Attix DK, Need AC, Ge D, Gibson G, Goldstein DB. Cirulli ET, et al. Among authors: need ac. Eur J Hum Genet. 2010 Jul;18(7):815-20. doi: 10.1038/ejhg.2010.2. Epub 2010 Feb 3. Eur J Hum Genet. 2010. PMID: 20125193 Free PMC article.
140 results