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Page 1
De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype.
Shashi V, Pena LD, 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 CT, 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: goldstein db. Am J Hum Genet. 2016 Oct 6;99(4):991-999. doi: 10.1016/j.ajhg.2016.08.017. Epub 2016 Sep 29. Am J Hum Genet. 2016. PMID: 27693232 Free PMC article.
Genetic enhancement of cognition in a kindred with cone-rod dystrophy due to RIMS1 mutation.
Sisodiya SM, Thompson PJ, Need A, Harris SE, Weale ME, Wilkie SE, Michaelides M, Free SL, Walley N, Gumbs C, Gerrelli D, Ruddle P, Whalley LJ, Starr JM, Hunt DM, Goldstein DB, Deary IJ, Moore AT. Sisodiya SM, et al. Among authors: goldstein db. J Med Genet. 2007 Jun;44(6):373-80. doi: 10.1136/jmg.2006.047407. Epub 2007 Jan 19. J Med Genet. 2007. PMID: 17237123 Free PMC article. Clinical Trial.
Failure to replicate effect of Kibra on human memory in two large cohorts of European origin.
Need AC, Attix DK, McEvoy JM, Cirulli ET, Linney KN, Wagoner AP, Gumbs CE, Giegling I, Möller HJ, Francks C, Muglia P, Roses A, Gibson G, Weale ME, Rujescu D, Goldstein DB. Need AC, et al. Among authors: goldstein db. Am J Med Genet B Neuropsychiatr Genet. 2008 Jul 5;147B(5):667-8. doi: 10.1002/ajmg.b.30658. Am J Med Genet B Neuropsychiatr Genet. 2008. PMID: 18205171
Long-range LD can confound genome scans in admixed populations.
Price AL, Weale ME, Patterson N, Myers SR, Need AC, Shianna KV, Ge D, Rotter JI, Torres E, Taylor KD, Goldstein DB, Reich D. Price AL, et al. Among authors: goldstein db. Am J Hum Genet. 2008 Jul;83(1):132-5; author reply 135-9. doi: 10.1016/j.ajhg.2008.06.005. Am J Hum Genet. 2008. PMID: 18606306 Free PMC article. No abstract available.
551 results