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Items: 11

1.

A microcosting and cost-consequence analysis of clinical genomic testing strategies in autism spectrum disorder.

Tsiplova K, Zur RM, Marshall CR, Stavropoulos DJ, Pereira SL, Merico D, Young EJ, Sung WWL, Scherer SW, Ungar WJ.

Genet Med. 2017 Nov;19(11):1268-1275. doi: 10.1038/gim.2017.47. Epub 2017 May 4.

PMID:
28471434
2.

Duplication of GTF2I results in separation anxiety in mice and humans.

Mervis CB, Dida J, Lam E, Crawford-Zelli NA, Young EJ, Henderson DR, Onay T, Morris CA, Woodruff-Borden J, Yeomans J, Osborne LR.

Am J Hum Genet. 2012 Jun 8;90(6):1064-70. doi: 10.1016/j.ajhg.2012.04.012. Epub 2012 May 10.

3.

Enhanced prefrontal serotonin 5-HT(1A) currents in a mouse model of Williams-Beuren syndrome with low innate anxiety.

Proulx E, Young EJ, Osborne LR, Lambe EK.

J Neurodev Disord. 2010 Jun;2(2):99-108. Epub 2010 Mar 19.

4.

Infantile spasms is associated with deletion of the MAGI2 gene on chromosome 7q11.23-q21.11.

Marshall CR, Young EJ, Pani AM, Freckmann ML, Lacassie Y, Howald C, Fitzgerald KK, Peippo M, Morris CA, Shane K, Priolo M, Morimoto M, Kondo I, Manguoglu E, Berker-Karauzum S, Edery P, Hobart HH, Mervis CB, Zuffardi O, Reymond A, Kaplan P, Tassabehji M, Gregg RG, Scherer SW, Osborne LR.

Am J Hum Genet. 2008 Jul;83(1):106-11. doi: 10.1016/j.ajhg.2008.06.001. Epub 2008 Jun 19.

5.

The common inversion of the Williams-Beuren syndrome region at 7q11.23 does not cause clinical symptoms.

Tam E, Young EJ, Morris CA, Marshall CR, Loo W, Scherer SW, Mervis CB, Osborne LR.

Am J Med Genet A. 2008 Jul 15;146A(14):1797-806. doi: 10.1002/ajmg.a.32360.

6.

Reduced fear and aggression and altered serotonin metabolism in Gtf2ird1-targeted mice.

Young EJ, Lipina T, Tam E, Mandel A, Clapcote SJ, Bechard AR, Chambers J, Mount HT, Fletcher PJ, Roder JC, Osborne LR.

Genes Brain Behav. 2008 Mar;7(2):224-34. Epub 2007 Aug 3.

7.

Severe expressive-language delay related to duplication of the Williams-Beuren locus.

Somerville MJ, Mervis CB, Young EJ, Seo EJ, del Campo M, Bamforth S, Peregrine E, Loo W, Lilley M, Pérez-Jurado LA, Morris CA, Scherer SW, Osborne LR.

N Engl J Med. 2005 Oct 20;353(16):1694-701.

8.

Expanded repeat in canine epilepsy.

Lohi H, Young EJ, Fitzmaurice SN, Rusbridge C, Chan EM, Vervoort M, Turnbull J, Zhao XC, Ianzano L, Paterson AD, Sutter NB, Ostrander EA, André C, Shelton GD, Ackerley CA, Scherer SW, Minassian BA.

Science. 2005 Jan 7;307(5706):81.

9.

Loss of function of the cytoplasmic isoform of the protein laforin (EPM2A) causes Lafora progressive myoclonus epilepsy.

Ianzano L, Young EJ, Zhao XC, Chan EM, Rodriguez MT, Torrado MV, Scherer SW, Minassian BA.

Hum Mutat. 2004 Feb;23(2):170-6.

PMID:
14722920
10.

Mutations in NHLRC1 cause progressive myoclonus epilepsy.

Chan EM, Young EJ, Ianzano L, Munteanu I, Zhao X, Christopoulos CC, Avanzini G, Elia M, Ackerley CA, Jovic NJ, Bohlega S, Andermann E, Rouleau GA, Delgado-Escueta AV, Minassian BA, Scherer SW.

Nat Genet. 2003 Oct;35(2):125-7. Epub 2003 Sep 7.

PMID:
12958597
11.

Laforin is a cell membrane and endoplasmic reticulum-associated protein tyrosine phosphatase.

Minassian BA, Andrade DM, Ianzano L, Young EJ, Chan E, Ackerley CA, Scherer SW.

Ann Neurol. 2001 Feb;49(2):271-5.

PMID:
11220751

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