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651 results

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Page 1
Submicroscopic deletions of 11q24-25 in individuals without Jacobsen syndrome: re-examination of the critical region by high-resolution array-CGH.
Tyson C, Qiao Y, Harvard C, Liu X, Bernier FP, McGillivray B, Farrell SA, Arbour L, Chudley AE, Clarke L, Gibson W, Dyack S, McLeod R, Costa T, Vanallen MI, Yong SL, Graham GE, Macleod P, Patel MS, Hurlburt J, Holden JJ, Lewis SM, Rajcan-Separovic E. Tyson C, et al. Among authors: lewis sm. Mol Cytogenet. 2008 Nov 11;1:23. doi: 10.1186/1755-8166-1-23. Mol Cytogenet. 2008. PMID: 19000322 Free PMC article.
The DLX1and DLX2 genes and susceptibility to autism spectrum disorders.
Liu X, Novosedlik N, Wang A, Hudson ML, Cohen IL, Chudley AE, Forster-Gibson CJ, Lewis SM, Holden JJ. Liu X, et al. Among authors: lewis sm. Eur J Hum Genet. 2009 Feb;17(2):228-35. doi: 10.1038/ejhg.2008.148. Epub 2008 Aug 27. Eur J Hum Genet. 2009. PMID: 18728693 Free PMC article.
Disruption at the PTCHD1 Locus on Xp22.11 in Autism spectrum disorder and intellectual disability.
Noor A, Whibley A, Marshall CR, Gianakopoulos PJ, Piton A, Carson AR, Orlic-Milacic M, Lionel AC, Sato D, Pinto D, Drmic I, Noakes C, Senman L, Zhang X, Mo R, Gauthier J, Crosbie J, Pagnamenta AT, Munson J, Estes AM, Fiebig A, Franke A, Schreiber S, Stewart AF, Roberts R, McPherson R, Guter SJ, Cook EH Jr, Dawson G, Schellenberg GD, Battaglia A, Maestrini E; Autism Genome Project Consortium; Jeng L, Hutchison T, Rajcan-Separovic E, Chudley AE, Lewis SM, Liu X, Holden JJ, Fernandez B, Zwaigenbaum L, Bryson SE, Roberts W, Szatmari P, Gallagher L, Stratton MR, Gecz J, Brady AF, Schwartz CE, Schachar RJ, Monaco AP, Rouleau GA, Hui CC, Lucy Raymond F, Scherer SW, Vincent JB. Noor A, et al. Among authors: lewis sm. Sci Transl Med. 2010 Sep 15;2(49):49ra68. doi: 10.1126/scitranslmed.3001267. Sci Transl Med. 2010. PMID: 20844286 Free PMC article.
Understanding the impact of 1q21.1 copy number variant.
Harvard C, Strong E, Mercier E, Colnaghi R, Alcantara D, Chow E, Martell S, Tyson C, Hrynchak M, McGillivray B, Hamilton S, Marles S, Mhanni A, Dawson AJ, Pavlidis P, Qiao Y, Holden JJ, Lewis SM, O'Driscoll M, Rajcan-Separovic E. Harvard C, et al. Among authors: lewis sm. Orphanet J Rare Dis. 2011 Aug 8;6:54. doi: 10.1186/1750-1172-6-54. Orphanet J Rare Dis. 2011. PMID: 21824431 Free PMC article.
Functional consequences of copy number variants in miscarriage.
Wen J, Hanna CW, Martell S, Leung PC, Lewis SM, Robinson WP, Stephenson MD, Rajcan-Separovic E. Wen J, et al. Among authors: lewis sm. Mol Cytogenet. 2015 Jan 31;8:6. doi: 10.1186/s13039-015-0109-8. eCollection 2015. Mol Cytogenet. 2015. PMID: 25674159 Free PMC article.
Exome Sequencing and the Management of Neurometabolic Disorders.
Tarailo-Graovac M, Shyr C, Ross CJ, Horvath GA, Salvarinova R, Ye XC, Zhang LH, Bhavsar AP, Lee JJ, Drögemöller BI, Abdelsayed M, Alfadhel M, Armstrong L, Baumgartner MR, Burda P, Connolly MB, Cameron J, Demos M, Dewan T, Dionne J, Evans AM, Friedman JM, Garber I, Lewis S, Ling J, Mandal R, Mattman A, McKinnon M, Michoulas A, Metzger D, Ogunbayo OA, Rakic B, Rozmus J, Ruben P, Sayson B, Santra S, Schultz KR, Selby K, Shekel P, Sirrs S, Skrypnyk C, Superti-Furga A, Turvey SE, Van Allen MI, Wishart D, Wu J, Wu J, Zafeiriou D, Kluijtmans L, Wevers RA, Eydoux P, Lehman AM, Vallance H, Stockler-Ipsiroglu S, Sinclair G, Wasserman WW, van Karnebeek CD. Tarailo-Graovac M, et al. N Engl J Med. 2016 Jun 9;374(23):2246-55. doi: 10.1056/NEJMoa1515792. Epub 2016 May 25. N Engl J Med. 2016. PMID: 27276562 Free PMC article.
651 results