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De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype.
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.
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: shuss cm.
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.
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CTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum.
Konrad EDH, Nardini N, Caliebe A, Nagel I, Young D, Horvath G, Santoro SL, Shuss C, Ziegler A, Bonneau D, Kempers M, Pfundt R, Legius E, Bouman A, Stuurman KE, Õunap K, Pajusalu S, Wojcik MH, Vasileiou G, Le Guyader G, Schnelle HM, Berland S, Zonneveld-Huijssoon E, Kersten S, Gupta A, Blackburn PR, Ellingson MS, Ferber MJ, Dhamija R, Klee EW, McEntagart M, Lichtenbelt KD, Kenney A, Vergano SA, Abou Jamra R, Platzer K, Ella Pierpont M, Khattar D, Hopkin RJ, Martin RJ, Jongmans MCJ, Chang VY, Martinez-Agosto JA, Kuismin O, Kurki MI, Pietiläinen O, Palotie A, Maarup TJ, Johnson DS, Venborg Pedersen K, Laulund LW, Lynch SA, Blyth M, Prescott K, Canham N, Ibitoye R, Brilstra EH, Shinawi M, Fassi E; DDD Study; Sticht H, Gregor A, Van Esch H, Zweier C.
Konrad EDH, et al.
Genet Med. 2019 Dec;21(12):2723-2733. doi: 10.1038/s41436-019-0585-z. Epub 2019 Jun 26.
Genet Med. 2019.
PMID: 31239556
Free PMC article.
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A case of constitutional trisomy 3 mosaicism in a teenage patient with mild phenotype.
Kekis M, Hashimoto S, Deeg C, Calloway I, McKinney A, Shuss C, Hickey S, Astbury C.
Kekis M, et al.
Eur J Med Genet. 2016 Nov;59(11):569-572. doi: 10.1016/j.ejmg.2016.10.002. Epub 2016 Oct 4.
Eur J Med Genet. 2016.
PMID: 27717910
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Partial tetrasomy 11q resulting from an intrachromosomal triplication of a 22 Mb region of chromosome 11.
Kekis M, Deeg C, Hashimoto S, McKinney A, Erdman L, Green-Geer C, Shuss C, Hickey S, Astbury C, Pyatt RE.
Kekis M, et al.
Am J Med Genet A. 2017 Apr;173(4):1056-1060. doi: 10.1002/ajmg.a.38098.
Am J Med Genet A. 2017.
PMID: 28328127
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