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906 results

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Heterozygous de novo and inherited mutations in the smooth muscle actin (ACTG2) gene underlie megacystis-microcolon-intestinal hypoperistalsis syndrome.
Wangler MF, Gonzaga-Jauregui C, Gambin T, Penney S, Moss T, Chopra A, Probst FJ, Xia F, Yang Y, Werlin S, Eglite I, Kornejeva L, Bacino CA, Baldridge D, Neul J, Lehman EL, Larson A, Beuten J, Muzny DM, Jhangiani S; Baylor-Hopkins Center for Mendelian Genomics; Gibbs RA, Lupski JR, Beaudet A. Wangler MF, et al. Among authors: gibbs ra. PLoS Genet. 2014 Mar 27;10(3):e1004258. doi: 10.1371/journal.pgen.1004258. eCollection 2014 Mar. PLoS Genet. 2014. PMID: 24676022 Free PMC article.
The complete genome of an individual by massively parallel DNA sequencing.
Wheeler DA, Srinivasan M, Egholm M, Shen Y, Chen L, McGuire A, He W, Chen YJ, Makhijani V, Roth GT, Gomes X, Tartaro K, Niazi F, Turcotte CL, Irzyk GP, Lupski JR, Chinault C, Song XZ, Liu Y, Yuan Y, Nazareth L, Qin X, Muzny DM, Margulies M, Weinstock GM, Gibbs RA, Rothberg JM. Wheeler DA, et al. Among authors: gibbs ra. Nature. 2008 Apr 17;452(7189):872-6. doi: 10.1038/nature06884. Nature. 2008. PMID: 18421352
Common and rare variants of DAOA in bipolar disorder.
Maheshwari M, Shi J, Badner JA, Skol A, Willour VL, Muzny DM, Wheeler DA, Gerald FR, Detera-Wadleigh S, McMahon FJ, Potash JB, Gershon ES, Liu C, Gibbs RA. Maheshwari M, et al. Among authors: gibbs ra. Am J Med Genet B Neuropsychiatr Genet. 2009 Oct 5;150B(7):960-6. doi: 10.1002/ajmg.b.30925. Am J Med Genet B Neuropsychiatr Genet. 2009. PMID: 19194963 Free PMC article.
Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy.
Lupski JR, Reid JG, Gonzaga-Jauregui C, Rio Deiros D, Chen DC, Nazareth L, Bainbridge M, Dinh H, Jing C, Wheeler DA, McGuire AL, Zhang F, Stankiewicz P, Halperin JJ, Yang C, Gehman C, Guo D, Irikat RK, Tom W, Fantin NJ, Muzny DM, Gibbs RA. Lupski JR, et al. Among authors: gibbs ra. N Engl J Med. 2010 Apr 1;362(13):1181-91. doi: 10.1056/NEJMoa0908094. Epub 2010 Mar 10. N Engl J Med. 2010. PMID: 20220177 Free PMC article.
Whole exome capture in solution with 3 Gbp of data.
Bainbridge MN, Wang M, Burgess DL, Kovar C, Rodesch MJ, D'Ascenzo M, Kitzman J, Wu YQ, Newsham I, Richmond TA, Jeddeloh JA, Muzny D, Albert TJ, Gibbs RA. Bainbridge MN, et al. Among authors: gibbs ra. Genome Biol. 2010;11(6):R62. doi: 10.1186/gb-2010-11-6-r62. Epub 2010 Jun 17. Genome Biol. 2010. PMID: 20565776 Free PMC article.
906 results