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Concept, design and implementation of a cardiovascular gene-centric 50 k SNP array for large-scale genomic association studies.
Keating BJ, Tischfield S, Murray SS, Bhangale T, Price TS, Glessner JT, Galver L, Barrett JC, Grant SF, Farlow DN, Chandrupatla HR, Hansen M, Ajmal S, Papanicolaou GJ, Guo Y, Li M, Derohannessian S, de Bakker PI, Bailey SD, Montpetit A, Edmondson AC, Taylor K, Gai X, Wang SS, Fornage M, Shaikh T, Groop L, Boehnke M, Hall AS, Hattersley AT, Frackelton E, Patterson N, Chiang CW, Kim CE, Fabsitz RR, Ouwehand W, Price AL, Munroe P, Caulfield M, Drake T, Boerwinkle E, Reich D, Whitehead AS, Cappola TP, Samani NJ, Lusis AJ, Schadt E, Wilson JG, Koenig W, McCarthy MI, Kathiresan S, Gabriel SB, Hakonarson H, Anand SS, Reilly M, Engert JC, Nickerson DA, Rader DJ, Hirschhorn JN, Fitzgerald GA. Keating BJ, et al. PLoS One. 2008;3(10):e3583. doi: 10.1371/journal.pone.0003583. Epub 2008 Oct 31. PLoS One. 2008. PMID: 18974833 Free PMC article.
Common variants in HSPB7 and FRMD4B associated with advanced heart failure.
Cappola TP, Li M, He J, Ky B, Gilmore J, Qu L, Keating B, Reilly M, Kim CE, Glessner J, Frackelton E, Hakonarson H, Syed F, Hindes A, Matkovich SJ, Cresci S, Dorn GW 2nd. Cappola TP, et al. Among authors: keating b. Circ Cardiovasc Genet. 2010 Apr;3(2):147-54. doi: 10.1161/CIRCGENETICS.109.898395. Epub 2010 Feb 2. Circ Cardiovasc Genet. 2010. PMID: 20124441 Free PMC article.
Copy number variations in alternative splicing gene networks impact lifespan.
Glessner JT, Smith AV, Panossian S, Kim CE, Takahashi N, Thomas KA, Wang F, Seidler K, Harris TB, Launer LJ, Keating B, Connolly J, Sleiman PM, Buxbaum JD, Grant SF, Gudnason V, Hakonarson H. Glessner JT, et al. Among authors: keating b. PLoS One. 2013;8(1):e53846. doi: 10.1371/journal.pone.0053846. Epub 2013 Jan 30. PLoS One. 2013. PMID: 23382853 Free PMC article.
Mutations in PDGFRB cause autosomal-dominant infantile myofibromatosis.
Martignetti JA, Tian L, Li D, Ramirez MC, Camacho-Vanegas O, Camacho SC, Guo Y, Zand DJ, Bernstein AM, Masur SK, Kim CE, Otieno FG, Hou C, Abdel-Magid N, Tweddale B, Metry D, Fournet JC, Papp E, McPherson EW, Zabel C, Vaksmann G, Morisot C, Keating B, Sleiman PM, Cleveland JA, Everman DB, Zackai E, Hakonarson H. Martignetti JA, et al. Among authors: keating b. Am J Hum Genet. 2013 Jun 6;92(6):1001-7. doi: 10.1016/j.ajhg.2013.04.024. Epub 2013 May 23. Am J Hum Genet. 2013. PMID: 23731542 Free PMC article.
Advantage of Whole Exome Sequencing over Allele-Specific and Targeted Segment Sequencing in Detection of Novel TULP1 Mutation in Leber Congenital Amaurosis.
Guo Y, Prokudin I, Yu C, Liang J, Xie Y, Flaherty M, Tian L, Crofts S, Wang F, Snyder J, Donaldson C, Abdel-Magid N, Vazquez L, Keating B, Hakonarson H, Wang J, Jamieson RV. Guo Y, et al. Among authors: keating b. Ophthalmic Genet. 2015;36(4):333-8. doi: 10.3109/13816810.2014.886269. Epub 2014 Feb 19. Ophthalmic Genet. 2015. PMID: 24547928
274 results