Publications

Filters: Keyword is Polymorphism, Single Nucleotide  [Clear All Filters]
2010
Xing C, Cohen JC, Boerwinkle E. A weighted false discovery rate control procedure reveals alleles at FOXA2 that influence fasting glucose levels. Am J Hum Genet. 2010 ;86(3):440-6.
Bainbridge MN, Wang M, Burgess DL, Kovar C, Rodesch MJ, D'Ascenzo M, Kitzman J, Wu Y-Q, Newsham I, Richmond TA, Jeddeloh JA, Muzny D, Albert TJ, Gibbs RA. Whole exome capture in solution with 3 Gbp of data. Genome Biol. 2010 ;11(6):R62.
Lupski JR, Reid JG, Gonzaga-Jauregui C, Deiros DRio, C Y Chen D, 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. Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy. N Engl J Med. 2010 ;362(13):1181-91.
2009
Pomerantz MM, Ahmadiyeh N, Jia L, Herman P, Verzi MP, Doddapaneni H, Beckwith CA, Chan JA, Hills A, Davis M, Yao K, Kehoe SM, Lenz H-J, Haiman CA, Yan C, Henderson BE, Frenkel B, Barretina J, Bass A, Tabernero J, Baselga J, Regan MM, J Manak R, Shivdasani R, Coetzee GA, Freedman ML. The 8q24 cancer risk variant rs6983267 shows long-range interaction with MYC in colorectal cancer. Nat Genet. 2009 ;41(8):882-4.
Voidonikolas G, Kreml SS, Chen C, Fisher WE, F Brunicardi C, Gibbs RA, Gingras M-C. Basic principles and technologies for deciphering the genetic map of cancer. World J Surg. 2009 ;33(4):615-29.
Khanna H, Davis EE, Murga-Zamalloa CA, Estrada-Cuzcano A, Lopez I, Hollander AI den, Zonneveld MN, Othman MI, Waseem N, Chakarova CF, Maubaret C, Diaz-Font A, MacDonald I, Muzny DM, Wheeler DA, Morgan M, Lewis LR, Logan CV, Tan PL, Beer MA, Inglehearn CF, Lewis RA, Jacobson SG, Bergmann C, Beales PL, Attié-Bitach T, Johnson CA, Otto EA, Bhattacharya SS, Hildebrandt F, Gibbs RA, Koenekoop RK, Swaroop A, Katsanis N. A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies. Nat Genet. 2009 ;41(6):739-45.
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. Common and rare variants of DAOA in bipolar disorder. Am J Med Genet B Neuropsychiatr Genet. 2009 ;150B(7):960-6.
You M, Wang D, Liu P, Vikis H, James M, Lu Y, Wang Y, Wang M, Chen Q, Jia D, Liu Y, Wen W, Yang P, Sun Z, Pinney SM, Zheng W, Shu X-O, Long J, Gao Y-T, Xiang Y-B, Chow W-H, Rothman N, Petersen GM, de Andrade M, Wu Y, Cunningham JM, Wiest JS, Fain PR, Schwartz AG, Girard L, Gazdar A, Gaba C, Rothschild H, Mandal D, Coons T, Lee J, Kupert E, Seminara D, Minna J, Bailey-Wilson JE, Amos CI, Anderson MW. Fine mapping of chromosome 6q23-25 region in familial lung cancer families reveals RGS17 as a likely candidate gene. Clin Cancer Res. 2009 ;15(8):2666-74.
Montasser ME, Shimmin LC, Hanis CL, Boerwinkle E, Hixson JE. Gene by smoking interaction in hypertension: identification of a major quantitative trait locus on chromosome 15q for systolic blood pressure in Mexican-Americans. J Hypertens. 2009 ;27(3):491-501.
Dmitrieva RI, Hinojos CA, Grove ML, Bell RJ, Boerwinkle E, Fornage M, Doris PA. Genome-wide identification of allelic expression in hypertensive rats. Circ Cardiovasc Genet. 2009 ;2(2):106-15.
Gibbs RA, Taylor JF, Van Tassell CP, Barendse W, Eversole KA, Gill CA, Green RD, Hamernik DL, Kappes SM, Lien S, Matukumalli LK, McEwan JC, Nazareth LV, Schnabel RD, Weinstock GM, Wheeler DA, Ajmone-Marsan P, Boettcher PJ, Caetano AR, Garcia JFernando, Hanotte O, Mariani P, Skow LC, Sonstegard TS, Williams JL, Diallo B, Hailemariam L, Martinez ML, Morris CA, Silva LOC, Spelman RJ, Mulatu W, Zhao K, Abbey CA, Agaba M, Araujo FR, Bunch RJ, Burton J, Gorni C, Olivier H, Harrison BE, Luff B, Machado MA, Mwakaya J, Plastow G, Sim W, Smith T, Thomas MB, Valentini A, Williams P, Womack J, Woolliams JA, Liu Y, Qin X, Worley KC, Gao C, Jiang H, Moore SS, Ren Y, Song X-Z, Bustamante CD, Hernandez RD, Muzny DM, Patil S, San Lucas A, Fu Q, Kent MP, Vega R, Matukumalli A, McWilliam S, Sclep G, Bryc K, Choi J, Gao H, Grefenstette JJ, Murdoch B, Stella A, Villa-Angulo R, Wright M, Aerts J, Jann O, Negrini R, Goddard ME, Hayes BJ, Bradley DG, da Silva MBarbosa, Lau LPL, Liu GE, Lynn DJ, Panzitta F, Dodds KG. Genome-wide survey of SNP variation uncovers the genetic structure of cattle breeds. Science. 2009 ;324(5926):528-32.
Chung CC, Shimmin L, Natarajan S, Hanis CL, Boerwinkle E, Hixson JE. Glucocorticoid receptor gene variant in the 3' untranslated region is associated with multiple measures of blood pressure. J Clin Endocrinol Metab. 2009 ;94(1):268-76.
Meyer TE, Shiffman D, Morrison AC, Rowland CM, Louie JZ, Bare LA, Ross DA, Arellano AR, Chasman DI, Ridker PM, Pankow JS, Coresh J, Malloy MJ, Kane JP, Ellis SG, Devlin JJ, Boerwinkle E. GOSR2 Lys67Arg is associated with hypertension in whites. Am J Hypertens. 2009 ;22(2):163-8.
Liu X, Maxwell TJ, Boerwinkle E, Fu Y-X. Inferring population mutation rate and sequencing error rate using the SNP frequency spectrum in a sample of DNA sequences. Mol Biol Evol. 2009 ;26(7):1479-90.
Bressler J, Fornage M, Hanis CL, Kao WHong Linda, Lewis CE, McPherson R, Dent R, Mosley TH, Pennacchio LA, Boerwinkle E. The INSIG2 rs7566605 genetic variant does not play a major role in obesity in a sample of 24,722 individuals from four cohorts. BMC Med Genet. 2009 ;10:56.
Barbalic M, Schwartz GL, Chapman AB, Turner ST, Boerwinkle E. Kininogen gene (KNG) variation has a consistent effect on aldosterone response to antihypertensive drug therapy: the GERA study. Physiol Genomics. 2009 ;39(1):56-60.
Vakoc CR, Wen Y-Y, Gibbs RA, Johnstone CN, Rustgi AK, Blobel GA. Low frequency of MLL3 mutations in colorectal carcinoma. Cancer Genet Cytogenet. 2009 ;189(2):140-1.
2008
Klos K, Shimmin L, Ballantyne C, Boerwinkle E, Clark A, Coresh J, Hanis C, Liu K, Sayre S, Hixson J. APOE/C1/C4/C2 hepatic control region polymorphism influences plasma apoE and LDL cholesterol levels. Hum Mol Genet. 2008 ;17(13):2039-46.
Wheeler DA, Srinivasan M, Egholm M, Shen Y, Chen L, McGuire A, He W, Chen Y-J, Makhijani V, G Roth T, Gomes X, Tartaro K, Niazi F, Turcotte CL, Irzyk GP, Lupski JR, Chinault C, Song X-Z, Liu Y, Yuan Y, Nazareth L, Qin X, Muzny DM, Margulies M, Weinstock GM, Gibbs RA, Rothberg JM. The complete genome of an individual by massively parallel DNA sequencing. Nature. 2008 ;452(7189):872-6.
Matejková P, Strouhal M, Smajs D, Norris SJ, Palzkill T, Petrosino JF, Sodergren E, Norton JE, Singh J, Richmond TA, Molla MN, Albert TJ, Weinstock GM. Complete genome sequence of Treponema pallidum ssp. pallidum strain SS14 determined with oligonucleotide arrays. BMC Microbiol. 2008 ;8:76.
Leduc MS, Shimmin LC, Klos KLE, Hanis C, Boerwinkle E, Hixson JE. Comprehensive evaluation of apolipoprotein H gene (APOH) variation identifies novel associations with measures of lipid metabolism in GENOA. J Lipid Res. 2008 ;49(12):2648-56.
Rogers J, Shelton SE, Shelledy W, Garcia R, Kalin NH. Genetic influences on behavioral inhibition and anxiety in juvenile rhesus macaques. Genes Brain Behav. 2008 ;7(4):463-9.
Volcik KA, Nettleton JA, Ballantyne CM, Boerwinkle E. Peroxisome proliferator-activated receptor [alpha] genetic variation interacts with n-6 and long-chain n-3 fatty acid intake to affect total cholesterol and LDL-cholesterol concentrations in the Atherosclerosis Risk in Communities Study. Am J Clin Nutr. 2008 ;87(6):1926-31.
Yao J, Lin H, Van Deynze A, Doddapaneni H, Francis M, Lemos EGertrudes, Civerolo EL. PrimerSNP: a web tool for whole-genome selection of allele-specific and common primers of phylogenetically-related bacterial genomic sequences. BMC Microbiol. 2008 ;8:185.
Worley KC, Weinstock GM, Gibbs RA. Rats in the genomic era. Physiol Genomics. 2008 ;32(3):273-82.