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103 results
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A near null variant of 12/15-LOX encoded by a novel SNP in ALOX15 and the risk of coronary artery disease.
Assimes TL, Knowles JW, Priest JR, Basu A, Borchert A, Volcik KA, Grove ML, Tabor HK, Southwick A, Tabibiazar R, Sidney S, Boerwinkle E, Go AS, Iribarren C, Hlatky MA, Fortmann SP, Myers RM, Kuhn H, Risch N, Quertermous T. Assimes TL, et al. Among authors: tabor hk. Atherosclerosis. 2008 May;198(1):136-44. doi: 10.1016/j.atherosclerosis.2007.09.003. Epub 2007 Oct 23. Atherosclerosis. 2008. PMID: 17959182 Free PMC article.
Common polymorphisms of ALOX5 and ALOX5AP and risk of coronary artery disease.
Assimes TL, Knowles JW, Priest JR, Basu A, Volcik KA, Southwick A, Tabor HK, Hartiala J, Allayee H, Grove ML, Tabibiazar R, Sidney S, Fortmann SP, Go A, Hlatky M, Iribarren C, Boerwinkle E, Myers R, Risch N, Quertermous T. Assimes TL, et al. Among authors: tabor hk. Hum Genet. 2008 May;123(4):399-408. doi: 10.1007/s00439-008-0489-5. Epub 2008 Mar 28. Hum Genet. 2008. PMID: 18369664 Free PMC article.
Ribosomal mutations cause p53-mediated dark skin and pleiotropic effects.
McGowan KA, Li JZ, Park CY, Beaudry V, Tabor HK, Sabnis AJ, Zhang W, Fuchs H, de Angelis MH, Myers RM, Attardi LD, Barsh GS. McGowan KA, et al. Among authors: tabor hk. Nat Genet. 2008 Aug;40(8):963-70. doi: 10.1038/ng.188. Epub 2008 Jul 20. Nat Genet. 2008. PMID: 18641651 Free PMC article.
Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome.
Ng SB, Bigham AW, Buckingham KJ, Hannibal MC, McMillin MJ, Gildersleeve HI, Beck AE, Tabor HK, Cooper GM, Mefford HC, Lee C, Turner EH, Smith JD, Rieder MJ, Yoshiura K, Matsumoto N, Ohta T, Niikawa N, Nickerson DA, Bamshad MJ, Shendure J. Ng SB, et al. Among authors: tabor hk. Nat Genet. 2010 Sep;42(9):790-3. doi: 10.1038/ng.646. Epub 2010 Aug 15. Nat Genet. 2010. PMID: 20711175 Free PMC article.
Exome sequencing of extreme phenotypes identifies DCTN4 as a modifier of chronic Pseudomonas aeruginosa infection in cystic fibrosis.
Emond MJ, Louie T, Emerson J, Zhao W, Mathias RA, Knowles MR, Wright FA, Rieder MJ, Tabor HK, Nickerson DA, Barnes KC; National Heart, Lung, and Blood Institute (NHLBI) GO Exome Sequencing Project; Lung GO, Gibson RL, Bamshad MJ. Emond MJ, et al. Among authors: tabor hk. Nat Genet. 2012 Jul 8;44(8):886-9. doi: 10.1038/ng.2344. Nat Genet. 2012. PMID: 22772370 Free PMC article.
Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine.
Green RC, Goddard KAB, Jarvik GP, Amendola LM, Appelbaum PS, Berg JS, Bernhardt BA, Biesecker LG, Biswas S, Blout CL, Bowling KM, Brothers KB, Burke W, Caga-Anan CF, Chinnaiyan AM, Chung WK, Clayton EW, Cooper GM, East K, Evans JP, Fullerton SM, Garraway LA, Garrett JR, Gray SW, Henderson GE, Hindorff LA, Holm IA, Lewis MH, Hutter CM, Janne PA, Joffe S, Kaufman D, Knoppers BM, Koenig BA, Krantz ID, Manolio TA, McCullough L, McEwen J, McGuire A, Muzny D, Myers RM, Nickerson DA, Ou J, Parsons DW, Petersen GM, Plon SE, Rehm HL, Roberts JS, Robinson D, Salama JS, Scollon S, Sharp RR, Shirts B, Spinner NB, Tabor HK, Tarczy-Hornoch P, Veenstra DL, Wagle N, Weck K, Wilfond BS, Wilhelmsen K, Wolf SM, Wynn J, Yu JH; CSER Consortium. Green RC, et al. Among authors: tabor hk. Am J Hum Genet. 2016 Jun 2;98(6):1051-1066. doi: 10.1016/j.ajhg.2016.04.011. Epub 2016 May 12. Am J Hum Genet. 2016. PMID: 27181682 Free PMC article.
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