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431 results

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Characterization of Potocki-Lupski syndrome (dup(17)(p11.2p11.2)) and delineation of a dosage-sensitive critical interval that can convey an autism phenotype.
Potocki L, Bi W, Treadwell-Deering D, Carvalho CM, Eifert A, Friedman EM, Glaze D, Krull K, Lee JA, Lewis RA, Mendoza-Londono R, Robbins-Furman P, Shaw C, Shi X, Weissenberger G, Withers M, Yatsenko SA, Zackai EH, Stankiewicz P, Lupski JR. Potocki L, et al. Am J Hum Genet. 2007 Apr;80(4):633-49. doi: 10.1086/512864. Epub 2007 Feb 26. Am J Hum Genet. 2007. PMID: 17357070 Free PMC article.
Recurrent distal 7q11.23 deletion including HIP1 and YWHAG identified in patients with intellectual disabilities, epilepsy, and neurobehavioral problems.
Ramocki MB, Bartnik M, Szafranski P, Kołodziejska KE, Xia Z, Bravo J, Miller GS, Rodriguez DL, Williams CA, Bader PI, Szczepanik E, Mazurczak T, Antczak-Marach D, Coldwell JG, Akman CI, McAlmon K, Cohen MP, McGrath J, Roeder E, Mueller J, Kang SH, Bacino CA, Patel A, Bocian E, Shaw CA, Cheung SW, Mazurczak T, Stankiewicz P. Ramocki MB, et al. Among authors: shaw ca. Am J Hum Genet. 2010 Dec 10;87(6):857-65. doi: 10.1016/j.ajhg.2010.10.019. Epub 2010 Nov 25. Am J Hum Genet. 2010. PMID: 21109226 Free PMC article.
Platelet microRNA-mRNA coexpression profiles correlate with platelet reactivity.
Nagalla S, Shaw C, Kong X, Kondkar AA, Edelstein LC, Ma L, Chen J, McKnight GS, López JA, Yang L, Jin Y, Bray MS, Leal SM, Dong JF, Bray PF. Nagalla S, et al. Blood. 2011 May 12;117(19):5189-97. doi: 10.1182/blood-2010-09-299719. Epub 2011 Mar 17. Blood. 2011. PMID: 21415270 Free PMC article.
Human genome-wide association and mouse knockout approaches identify platelet supervillin as an inhibitor of thrombus formation under shear stress.
Edelstein LC, Luna EJ, Gibson IB, Bray M, Jin Y, Kondkar A, Nagalla S, Hadjout-Rabi N, Smith TC, Covarrubias D, Jones SN, Ahmad F, Stolla M, Kong X, Fang Z, Bergmeier W, Shaw C, Leal SM, Bray PF. Edelstein LC, et al. Circulation. 2012 Jun 5;125(22):2762-71. doi: 10.1161/CIRCULATIONAHA.112.091462. Epub 2012 May 1. Circulation. 2012. PMID: 22550155 Free PMC article.
Rare DNA copy number variants in cardiovascular malformations with extracardiac abnormalities.
Lalani SR, Shaw C, Wang X, Patel A, Patterson LW, Kolodziejska K, Szafranski P, Ou Z, Tian Q, Kang SH, Jinnah A, Ali S, Malik A, Hixson P, Potocki L, Lupski JR, Stankiewicz P, Bacino CA, Dawson B, Beaudet AL, Boricha FM, Whittaker R, Li C, Ware SM, Cheung SW, Penny DJ, Jefferies JL, Belmont JW. Lalani SR, et al. Among authors: shaw c. Eur J Hum Genet. 2013 Feb;21(2):173-81. doi: 10.1038/ejhg.2012.155. Epub 2012 Aug 29. Eur J Hum Genet. 2013. PMID: 22929023 Free PMC article.
431 results