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CTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum.
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.
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: shuss cm.
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.
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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: 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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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. Among authors: shuss c.
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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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. Among authors: shuss c.
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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