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David M. Altshuler, MD, PhD

Publications

  • Zaitlen N, Lindström S, Pasaniuc B, Cornelis M, Genovese G, Pollack S, Barton A, Bickeböller H, Bowden DW, Eyre S, Freedman BI, Friedman DJ, Field JK, Groop L, Haugen A, Heinrich J, Henderson BE, Hicks PJ, Hocking LJ, Kolonel LN, Landi MT, Langefeld CD, Le Marchand L, Meister M, Morgan AW, Raji OY, Risch A, Rosenberger A, Scherf D, Steer S, Walshaw M, Waters KM, Wilson AG, Wordsworth P, Zienolddiny S, Tchetgen ET, Haiman C, Hunter DJ, Plenge RM, Worthington J, Christiani DC, Schaumberg DA, Chasman DI, Altshuler D, Voight B, Kraft P, Patterson N, Price AL.Informed conditioning on clinical covariates increases power in case-control association studies.PLoS Genet. 2012 Nov;8(11):e1003032.
    23144628
  • Zaitlen N, Pasaniuc B, Patterson N, Pollack S, Voight B, Groop L, Altshuler D, Henderson BE, Kolonel LN, Le Marchand L, Waters K, Haiman CA, Stranger BE, Dermitzakis ET, Kraft P, Price AL.Analysis of case-control association studies with known risk variants.Bioinformatics. 2012 Jul 1;28(13):1729-37.
    22556366
  • Gaudet MM, Kirchhoff T, Green T, Vijai J, Korn JM, Guiducci C, Segrè AV, McGee K, McGuffog L, Kartsonaki C, Morrison J, Healey S, Sinilnikova OM, Stoppa-Lyonnet D, Mazoyer S, Gauthier-Villars M, Sobol H, Longy M, Frenay M, GEMO Study Collaborators , Hogervorst FB, Rookus MA, Collée JM, Hoogerbrugge N, van Roozendaal KE, , Piedmonte M, Rubinstein W, Nerenstone S, Van Le L, Blank SV, Caldés T, de la Hoya M, Nevanlinna H, Aittomäki K, Lazaro C, Blanco I, Arason A, Johannsson OT, Barkardottir RB, Devilee P, Olopade OI, Neuhausen SL, Wang X, Fredericksen ZS, Peterlongo P, Manoukian S, Barile M, Viel A, Radice P, Phelan CM, Narod S, Rennert G, Lejbkowicz F, Flugelman A, Andrulis IL, Glendon G, Ozcelik H, , Toland AE, Montagna M, D'Andrea E, Friedman E, Laitman Y, Borg A, Beattie M, Ramus SJ, Domchek SM, Nathanson KL, Rebbeck T, Spurdle AB, Chen X, Holland H, , John EM, Hopper JL, Buys SS, Daly MB, Southey MC, Terry MB, Tung N, Overeem Hansen TV, Nielsen FC, Greene MH, Greene MI, Mai PL, Osorio A, Durán M, Andres R, Benítez J, Weitzel JN, Garber J, Hamann U, EMBRACE , Peock S, Cook M, Oliver C, Frost D, Platte R, Evans DG, Lalloo F, Eeles R, Izatt L, Walker L, Eason J, Barwell J, Godwin AK, Schmutzler RK, Wappenschmidt B, Engert S, Arnold N, Gadzicki D, Dean M, Gold B, Klein RJ, Couch FJ, Chenevix-Trench G, Easton DF, Daly MJ, Antoniou AC, Altshuler DM, Offit K, Sinilnikova OM, Stoppa-Lyonnet D, Mazoyer S, Gauthier-Villars M, Sobol H, Longy M, Frenay M, Sinilnikova O, Barjhoux L, Giraud S, Léone M, Mazoyer S, Stoppa-Lyonnet D, Gauthier-Villars M, Houdayer C, Moncoutier V, Belotti M, de Pauw A, Bressac-de-Paillerets B, Remenieras A, Byrde V, Caron O, Lenoir G, Bignon YJ, Uhrhammer N, Lasset C, Bonadona V, Hardouin A, Berthet P, Sobol H, Bourdon V, Noguchi T, Eisinger F, Coulet F, Colas C, Soubrier F, Coupier I, Peyrat JP, Fournier J, Révillion F, Vennin P, Adenis C, Rouleau E, Lidereau R, Demange L, Nogues C, Muller D, Fricker JP, Longy M, Sevenet N, Toulas C, Guimbaud R, Gladieff L, Feillel V, Leroux D, Dreyfus H, Rebischung C, Cassini C, Faivre L, Prieur F, Ferrer SF, Frénay M, Vénat-Bouvet L, Lynch HT, Hogervorst FB, Rookus MA, Collée JM, Hoogerbrugge N, van Roozendaal KE, Hogervorst FB, Verhoef S, Verheus M, van 't Veer LJ, van Leeuwen FE, Rookus MA, Collée M, van den Ouweland AM, Jager A, Hooning MJ, Tilanus-Linthorst MM, Seynaeve C, van Asperen CJ, Wijnen JT, Vreeswijk MP, Tollenaar RA, Devilee P, Ligtenberg MJ, Hoogerbrugge N, Ausems MG, van der Luijt RB, Aalfs CM, van Os TA, Gille JJ, Waisfisz Q, Meijers-Heijboer H, Gomez-Garcia EB, van Roozendaal CE, Blok MJ, Oosterwijk JC, van der Hout AH, Mourits MJ, Vasen HF, Spurdle AB, Chenevix-Trench G.Common genetic variants and modification of penetrance of BRCA2-associated breast cancer.PLoS Genet. 2010 Oct;6(10):e1001183.
    21060860
  • Lindström S, Ma J, Altshuler D, Giovannucci E, Riboli E, Albanes D, Allen NE, Berndt SI, Boeing H, Bueno-de-Mesquita HB, Chanock SJ, Dunning AM, Feigelson HS, Gaziano JM, Haiman CA, Hayes RB, Henderson BE, Hunter DJ, Kaaks R, Kolonel LN, Le Marchand L, Martínez C, Overvad K, Siddiq A, Stampfer M, Stattin P, Stram DO, Thun MJ, Trichopoulos D, Tumino R, Virtamo J, Weinstein SJ, Yeager M, Kraft P, Freedman ML.A large study of androgen receptor germline variants and their relation to sex hormone levels and prostate cancer risk. Results from the National Cancer Institute Breast and Prostate Cancer Cohort Consortium.J Clin Endocrinol Metab. 2010 Sep;95(9):E121-7.
    20534771
  • , Altshuler DM, Gibbs RA, Peltonen L, Altshuler DM, Gibbs RA, Peltonen L, Dermitzakis E, Schaffner SF, Yu F, Peltonen L, Dermitzakis E, Bonnen PE, Altshuler DM, Gibbs RA, de Bakker PI, Deloukas P, Gabriel SB, Gwilliam R, Hunt S, Inouye M, Jia X, Palotie A, Parkin M, Whittaker P, Yu F, Chang K, Hawes A, Lewis LR, Ren Y, Wheeler D, Gibbs RA, Muzny DM, Barnes C, Darvishi K, Hurles M, Korn JM, Kristiansson K, Lee C, McCarrol SA, Nemesh J, Dermitzakis E, Keinan A, Montgomery SB, Pollack S, Price AL, Soranzo N, Bonnen PE, Gibbs RA, Gonzaga-Jauregui C, Keinan A, Price AL, Yu F, Anttila V, Brodeur W, Daly MJ, Leslie S, McVean G, Moutsianas L, Nguyen H, Schaffner SF, Zhang Q, Ghori MJ, McGinnis R, McLaren W, Pollack S, Price AL, Schaffner SF, Takeuchi F, Grossman SR, Shlyakhter I, Hostetter EB, Sabeti PC, Adebamowo CA, Foster MW, Gordon DR, Licinio J, Manca MC, Marshall PA, Matsuda I, Ngare D, Wang VO, Reddy D, Rotimi CN, Royal CD, Sharp RR, Zeng C, Brooks LD, McEwen JE.Integrating common and rare genetic variation in diverse human populations.Nature. 2010 Sep 2;467(7311):52-8.
    20811451
  • Bonnen PE, Lowe JK, Altshuler DM, Breslow JL, Stoffel M, Friedman JM, Pe'er I.European admixture on the Micronesian island of Kosrae: lessons from complete genetic information.Eur J Hum Genet. 2010 Mar;18(3):309-16.
    19844264
  • McCarroll SA, Bradner JE, Turpeinen H, Volin L, Martin PJ, Chilewski SD, Antin JH, Lee SJ, Ruutu T, Storer B, Warren EH, Zhang B, Zhao LP, Ginsburg D, Soiffer RJ, Partanen J, Hansen JA, Ritz J, Palotie A, Altshuler D.Donor-recipient mismatch for common gene deletion polymorphisms in graft-versus-host disease.Nat Genet. 2009 Dec;41(12):1341-4.
    19935662
  • Kenny EE, Gusev A, Riegel K, Lütjohann D, Lowe JK, Salit J, Maller JB, Stoffel M, Daly MJ, Altshuler DM, Friedman JM, Breslow JL, Pe'er I, Sehayek E.Systematic haplotype analysis resolves a complex plasma plant sterol locus on the Micronesian Island of Kosrae.Proc Natl Acad Sci U S A. 2009 Aug 18;106(33):13886-91.
    19667188
  • Greenway SC, Pereira AC, Lin JC, DePalma SR, Israel SJ, Mesquita SM, Ergul E, Conta JH, Korn JM, McCarroll SA, Gorham JM, Gabriel S, Altshuler DM, Quintanilla-Dieck Mde L, Artunduaga MA, Eavey RD, Plenge RM, Shadick NA, Weinblatt ME, De Jager PL, Hafler DA, Breitbart RE, Seidman JG, Seidman CE.De novo copy number variants identify new genes and loci in isolated sporadic tetralogy of Fallot.Nat Genet. 2009 Aug;41(8):931-5.
    19597493
  • Raychaudhuri S, Plenge RM, Rossin EJ, Ng AC, , Purcell SM, Sklar P, Scolnick EM, Xavier RJ, Altshuler D, Daly MJ.Identifying relationships among genomic disease regions: predicting genes at pathogenic SNP associations and rare deletions.PLoS Genet. 2009 Jun;5(6):e1000534.
    19557189
  • Lowe JK,Maller JB,Pe'er I,Neale BM,Salit J,Kenny EE,Shea JL,Burkhardt R,Smith JG,Ji W,Noel M,Foo JN,Blundell ML,Skilling V,Garcia L,Sullivan ML,Lee HE,Labek A,Ferdowsian H,Auerbach SB,Lifton RP,Newton-Cheh C,Breslow JL,Stoffel M,Daly MJ,Altshuler DM,Friedman JM.Genome-wide association studies in an isolated founder population from the Pacific Island of Kosrae.PLoS Genet. 2009 Feb;5(2):e1000365.
    19197348
  • Choy E,Yelensky R,Bonakdar S,Plenge RM,Saxena R,De Jager PL,Shaw SY,Wolfish CS,Slavik JM,Cotsapas C,Rivas M,Dermitzakis ET,Cahir-McFarland E,Kieff E,Hafler D,Daly MJ,Altshuler D.Genetic analysis of human traits in vitro: drug response and gene expression in lymphoblastoid cell lines.PLoS Genet. 2008 Nov;4(11):e1000287.
    19043577
  • Korn JM, Kuruvilla FG, McCarroll SA, Wysoker A, Nemesh J, Cawley S, Hubbell E, Veitch J, Collins PJ, Darvishi K, Lee C, Nizzari MM, Gabriel SB, Purcell S, Daly MJ, Altshuler D.Integrated genotype calling and association analysis of SNPs, common copy number polymorphisms and rare CNVs.Nat Genet. 2008 Oct;40(10):1253-60.
    18776909
  • Peters AL,Plenge RM,Graham RR,Altshuler DM,Moser KL,Gaffney PM,Bishop GA.A novel polymorphism of the human CD40 receptor with enhanced function.Blood. 2008 Sep 1;112(5):1863-71.
    18591382
  • Hunter DJ, Altshuler D, Rader DJ.From Darwin's finches to canaries in the coal mine--mining the genome for new biology.N Engl J Med. 2008 Jun 26;358(26):2760-3.
    18579810
  • Zeggini E, Scott LJ, Saxena R, Voight BF, Marchini JL, Hu T, de Bakker PI, Abecasis GR, Almgren P, Andersen G, Ardlie K, Bostrom KB, Bergman RN, Bonnycastle LL, Borch-Johnsen K, Burtt NP, Chen H, Chines PS, Daly MJ, Deodhar P, Ding CJ, Doney AS, Duren WL, Elliott KS, Erdos MR, Frayling TM, Freathy RM, Gianniny L, Grallert H, Grarup N, Groves CJ, Guiducci C, Hansen T, Herder C, Hitman GA, Hughes TE, Isomaa B, Jackson AU, Jorgensen T, Kong A, Kubalanza K, Kuruvilla FG, Kuusisto J, Langenberg C, Lango H, Lauritzen T, Li Y, Lindgren CM, Lyssenko V, Marvelle AF, Meisinger C, Midthjell K, Mohlke KL, Morken MA, Morris AD, Narisu N, Nilsson P, Owen KR, Palmer CN, Payne F, Perry JR, Pettersen E, Platou C, Prokopenko I, Qi L, Qin L, Rayner NW, Rees M, Roix JJ, Sandbaek A, Shields B, Sjogren M, Steinthorsdottir V, Stringham HM, Swift AJ, Thorleifsson G, Thorsteinsdottir U, Timpson NJ, Tuomi T, Tuomilehto J, Walker M, Watanabe RM, Weedon MN, Willer CJ, Illig T, Hveem K, Hu FB, Laakso M, Stefansson K, Pedersen O, Wareham NJ, Barroso I, Hattersley AT, Collins FS, Groop L, McCarthy MI, Boehnke M, Altshuler D.Meta-analysis of genome-wide association data and large-scale replication identifies additional susceptibility loci for type 2 diabetes.Nat Genet. 2008 May;40(5):638-45.
    18372903
  • Pe'er I, Yelensky R, Altshuler D, Daly MJ.Estimation of the multiple testing burden for genomewide association studies of nearly all common variants.Genet Epidemiol. 2008 May;32(4):381-5.
    18348202
  • Lee SA, Haiman CA, Burtt NP, Pooler LC, Cheng I, Kolonel LN, Pike MC, Altshuler D, Hirschhorn JN, Henderson BE, Stram DO.A comprehensive analysis of common genetic variation in prolactin (PRL) and PRL receptor (PRLR) genes in relation to plasma prolactin levels and breast cancer risk: the multiethnic cohort.BMC Med Genet. 2007;8:72.
    18053149
  • Setiawan VW, Schumacher FR, Haiman CA, Stram DO, Albanes D, Altshuler D, Berglund G, Buring J, Calle EE, Clavel-Chapelon F, Cox DG, Gaziano JM, Hankinson SE, Hayes RB, Henderson BE, Hirschhorn J, Hoover R, Hunter DJ, Kaaks R, Kolonel LN, Kraft P, Ma J, Le Marchand L, Linseisen J, Lund E, Navarro C, Overvad K, Palli D, Peeters PH, Pike MC, Riboli E, Stampfer MJ, Thun MJ, Travis R, Trichopoulos D, Yeager M, Ziegler RG, Spencer Feigelson H, Chanock SJ.CYP17 genetic variation and risk of breast and prostate cancer from the National Cancer Institute Breast and Prostate Cancer Cohort Consortium (BPC3).Cancer Epidemiol Biomarkers Prev. 2007 Nov;16(11):2237-46.
    18006912
  • Frazer KA, Ballinger DG, Cox DR, Hinds DA, Stuve LL, Gibbs RA, Belmont JW, Boudreau A, Hardenbol P, Leal SM, Pasternak S, Wheeler DA, Willis TD, Yu F, Yang H, Zeng C, Gao Y, Hu H, Hu W, Li C, Lin W, Liu S, Pan H, Tang X, Wang J, Wang W, Yu J, Zhang B, Zhang Q, Zhao H, Zhao H, Zhou J, Gabriel SB, Barry R, Blumenstiel B, Camargo A, Defelice M, Faggart M, Goyette M, Gupta S, Moore J, Nguyen H, Onofrio RC, Parkin M, Roy J, Stahl E, Winchester E, Ziaugra L, Altshuler D, Shen Y, Yao Z, Huang W, Chu X, He Y, Jin L, Liu Y, Shen Y, Sun W, Wang H, Wang Y, Wang Y, Xiong X, Xu L, Waye MM, Tsui SK, Xue H, Wong JT, Galver LM, Fan JB, Gunderson K, Murray SS, Oliphant AR, Chee MS, Montpetit A, Chagnon F, Ferretti V, Leboeuf M, Olivier JF, Phillips MS, Roumy S, Sallee C, Verner A, Hudson TJ, Kwok PY, Cai D, Koboldt DC, Miller RD, Pawlikowska L, Taillon-Miller P, Xiao M, Tsui LC, Mak W, Song YQ, Tam PK, Nakamura Y, Kawaguchi T, Kitamoto T, Morizono T, Nagashima A, Ohnishi Y, Sekine A, Tanaka T, Tsunoda T, Deloukas P, Bird CP, Delgado M, Dermitzakis ET, Gwilliam R, Hunt S, Morrison J, Powell D, Stranger BE, Whittaker P, Bentley DR, Daly MJ, de Bakker PI, Barrett J, Chretien YR, Maller J, McCarroll S, Patterson N, Pe'er I, Price A, Purcell S, Richter DJ, Sabeti P, Saxena R, Schaffner SF, Sham PC, Varilly P, Altshuler D, Stein LD, Krishnan L, Smith AV, Tello-Ruiz MK, Thorisson GA, Chakravarti A, Chen PE, Cutler DJ, Kashuk CS, Lin S, Abecasis GR, Guan W, Li Y, Munro HM, Qin ZS, Thomas DJ, McVean G, Auton A, Bottolo L, Cardin N, Eyheramendy S, Freeman C, Marchini J, Myers S, Spencer C, Stephens M, Donnelly P, Cardon LR, Clarke G, Evans DM, Morris AP, Weir BS, Tsunoda T, Mullikin JC, Sherry ST, Feolo M, Skol A, Zhang H, Zeng C, Zhao H, Matsuda I, Fukushima Y, Macer DR, Suda E, Rotimi CN, Adebamowo CA, Ajayi I, Aniagwu T, Marshall PA, Nkwodimmah C, Royal CD, Leppert MF, Dixon M, Peiffer A, Qiu R, Kent A, Kato K, Niikawa N, Adewole IF, Knoppers BM, Foster MW, Clayton EW, Watkin J, Gibbs RA, Belmont JW, Muzny D, Nazareth L, Sodergren E, Weinstock GM, Wheeler DA, Yakub I, Gabriel SB, Onofrio RC, Richter DJ, Ziaugra L, Birren BW, Daly MJ, Altshuler D, Wilson RK, Fulton LL, Rogers J, Burton J, Carter NP, Clee CM, Griffiths M, Jones MC, McLay K, Plumb RW, Ross MT, Sims SK, Willey DL, Chen Z, Han H, Kang L, Godbout M, Wallenburg JC, L'Archeveque P, Bellemare G, Saeki K, Wang H, An D, Fu H, Li Q, Wang Z, Wang R, Holden AL, Brooks LD, McEwen JE, Guyer MS, Wang VO, Peterson JL, Shi M, Spiegel J, Sung LM, Zacharia LF, Collins FS, Kennedy K, Jamieson R, Stewart J.A second generation human haplotype map of over 3.1 million SNPs.Nature. 2007 Oct 18;449(7164):851-61.
    17943122
  • Sabeti PC, Varilly P, Fry B, Lohmueller J, Hostetter E, Cotsapas C, Xie X, Byrne EH, McCarroll SA, Gaudet R, Schaffner SF, Lander ES, Frazer KA, Ballinger DG, Cox DR, Hinds DA, Stuve LL, Gibbs RA, Belmont JW, Boudreau A, Hardenbol P, Leal SM, Pasternak S, Wheeler DA, Willis TD, Yu F, Yang H, Zeng C, Gao Y, Hu H, Hu W, Li C, Lin W, Liu S, Pan H, Tang X, Wang J, Wang W, Yu J, Zhang B, Zhang Q, Zhao H, Zhao H, Zhou J, Gabriel SB, Barry R, Blumenstiel B, Camargo A, Defelice M, Faggart M, Goyette M, Gupta S, Moore J, Nguyen H, Onofrio RC, Parkin M, Roy J, Stahl E, Winchester E, Ziaugra L, Altshuler D, Shen Y, Yao Z, Huang W, Chu X, He Y, Jin L, Liu Y, Shen Y, Sun W, Wang H, Wang Y, Wang Y, Xiong X, Xu L, Waye MM, Tsui SK, Xue H, Wong JT, Galver LM, Fan JB, Gunderson K, Murray SS, Oliphant AR, Chee MS, Montpetit A, Chagnon F, Ferretti V, Leboeuf M, Olivier JF, Phillips MS, Roumy S, Sallee C, Verner A, Hudson TJ, Kwok PY, Cai D, Koboldt DC, Miller RD, Pawlikowska L, Taillon-Miller P, Xiao M, Tsui LC, Mak W, Song YQ, Tam PK, Nakamura Y, Kawaguchi T, Kitamoto T, Morizono T, Nagashima A, Ohnishi Y, Sekine A, Tanaka T, Tsunoda T, Deloukas P, Bird CP, Delgado M, Dermitzakis ET, Gwilliam R, Hunt S, Morrison J, Powell D, Stranger BE, Whittaker P, Bentley DR, Daly MJ, de Bakker PI, Barrett J, Chretien YR, Maller J, McCarroll S, Patterson N, Pe'er I, Price A, Purcell S, Richter DJ, Sabeti P, Saxena R, Schaffner SF, Sham PC, Varilly P, Altshuler D, Stein LD, Krishnan L, Smith AV, Tello-Ruiz MK, Thorisson GA, Chakravarti A, Chen PE, Cutler DJ, Kashuk CS, Lin S, Abecasis GR, Guan W, Li Y, Munro HM, Qin ZS, Thomas DJ, McVean G, Auton A, Bottolo L, Cardin N, Eyheramendy S, Freeman C, Marchini J, Myers S, Spencer C, Stephens M, Donnelly P, Cardon LR, Clarke G, Evans DM, Morris AP, Weir BS, Tsunoda T, Johnson TA, Mullikin JC, Sherry ST, Feolo M, Skol A, Zhang H, Zeng C, Zhao H, Matsuda I, Fukushima Y, Macer DR, Suda E, Rotimi CN, Adebamowo CA, Ajayi I, Aniagwu T, Marshall PA, Nkwodimmah C, Royal CD, Leppert MF, Dixon M, Peiffer A, Qiu R, Kent A, Kato K, Niikawa N, Adewole IF, Knoppers BM, Foster MW, Clayton EW, Watkin J, Gibbs RA, Belmont JW, Muzny D, Nazareth L, Sodergren E, Weinstock GM, Wheeler DA, Yakub I, Gabriel SB, Onofrio RC, Richter DJ, Ziaugra L, Birren BW, Daly MJ, Altshuler D, Wilson RK, Fulton LL, Rogers J, Burton J, Carter NP, Clee CM, Griffiths M, Jones MC, McLay K, Plumb RW, Ross MT, Sims SK, Willey DL, Chen Z, Han H, Kang L, Godbout M, Wallenburg JC, L'Archeveque P, Bellemare G, Saeki K, Wang H, An D, Fu H, Li Q, Wang Z, Wang R, Holden AL, Brooks LD, McEwen JE, Guyer MS, Wang VO, Peterson JL, Shi M, Spiegel J, Sung LM, Zacharia LF, Collins FS, Kennedy K, Jamieson R, Stewart J.Genome-wide detection and characterization of positive selection in human populations.Nature. 2007 Oct 18;449(7164):913-8.
    17943131
  • Cox DG, Bretsky P, Kraft P, Pharoah P, Albanes D, Altshuler D, Amiano P, Berglund G, Boeing H, Buring J, Burtt N, Calle EE, Canzian F, Chanock S, Clavel-Chapelon F, Colditz GA, Feigelson HS, Haiman CA, Hankinson SE, Hirschhorn J, Henderson BE, Hoover R, Hunter DJ, Kaaks R, Kolonel L, LeMarchand L, Lund E, Palli D, Peeters PH, Pike MC, Riboli E, Stram DO, Thun M, Tjonneland A, Travis RC, Trichopoulos D, Yeager M.Haplotypes of the estrogen receptor beta gene and breast cancer risk.Int J Cancer. 2008 Jan 15;122(2):387-92.
    17935138
  • Chen YC, Kraft P, Bretsky P, Ketkar S, Hunter DJ, Albanes D, Altshuler D, Andriole G, Berg CD, Boeing H, Burtt N, Bueno-de-Mesquita B, Cann H, Canzian F, Chanock S, Dunning A, Feigelson HS, Freedman M, Gaziano JM, Giovannucci E, Sanchez MJ, Haiman CA, Hallmans G, Hayes RB, Henderson BE, Hirschhorn J, Kaaks R, Key TJ, Kolonel LN, LeMarchand L, Ma J, Overvad K, Palli D, Pharaoh P, Pike M, Riboli E, Rodriguez C, Setiawan VW, Stampfer M, Stram DO, Thomas G, Thun MJ, Travis RC, Virtamo J, Trichopoulou A, Wacholder S, Weinstein SJ.Sequence variants of estrogen receptor beta and risk of prostate cancer in the National Cancer Institute Breast and Prostate Cancer Cohort Consortium.Cancer Epidemiol Biomarkers Prev. 2007 Oct;16(10):1973-81.
    17932344
  • McCarroll SA, Altshuler DM.Copy-number variation and association studies of human disease.Nat Genet. 2007 Jul;39(7 Suppl):S37-42. Review.
    17597780
  • Scherer SW, Lee C, Birney E, Altshuler DM, Eichler EE, Carter NP, Hurles ME, Feuk L.Challenges and standards in integrating surveys of structural variation.Nat Genet. 2007 Jul;39(7 Suppl):S7-15. Review.
    17597783
  • Bell DW, Kim SH, Godwin AK, Schiripo TA, Harris PL, Haserlat SM, Wahrer DC, Haiman CA, Daly MB, Niendorf KB, Smith MR, Sgroi DC, Garber JE, Olopade OI, Le Marchand L, Henderson BE, Altshuler D, Haber DA, Freedman ML.Genetic and functional analysis of CHEK2 (CHK2) variants in multiethnic cohorts.Int J Cancer. 2007 Dec 15;121(12):2661-7.
    17721994
  • Rolnick SJ, Altschuler A, Nekhlyudov L, Elmore JG, Greene SM, Harris EL, Herrinton LJ, Barton MB, Geiger AM, Fletcher SW.What women wish they knew before prophylactic mastectomy.Cancer Nurs. 2007 Jul-Aug;30(4):285-91; quiz 292-3.
    17666977
  • Chanock SJ, Manolio T, Boehnke M, Boerwinkle E, Hunter DJ, Thomas G, Hirschhorn JN, Abecasis G, Altshuler D, Bailey-Wilson JE, Brooks LD, Cardon LR, Daly M, Donnelly P, Fraumeni JF Jr, Freimer NB, Gerhard DS, Gunter C, Guttmacher AE, Guyer MS, Harris EL, Hoh J, Hoover R, Kong CA, Merikangas KR, Morton CC, Palmer LJ, Phimister EG, Rice JP, Roberts J, Rotimi C, Tucker MA, Vogan KJ, Wacholder S, Wijsman EM, Winn DM, Collins FS.Replicating genotype-phenotype associations.Nature. 2007 Jun 7;447(7145):655-60.
    17554299
  • Saxena R, Voight BF, Lyssenko V, Burtt NP, de Bakker PI, Chen H, Roix JJ, Kathiresan S, Hirschhorn JN, Daly MJ, Hughes TE, Groop L, Altshuler D, Almgren P, Florez JC, Meyer J, Ardlie K, Bengtsson Bostrom K, Isomaa B, Lettre G, Lindblad U, Lyon HN, Melander O, Newton-Cheh C, Nilsson P, Orho-Melander M, Rastam L, Speliotes EK, Taskinen MR, Tuomi T, Guiducci C, Berglund A, Carlson J, Gianniny L, Hackett R, Hall L, Holmkvist J, Laurila E, Sjogren M, Sterner M, Surti A, Svensson M, Svensson M, Tewhey R, Blumenstiel B, Parkin M, Defelice M, Barry R, Brodeur W, Camarata J, Chia N, Fava M, Gibbons J, Handsaker B, Healy C, Nguyen K, Gates C, Sougnez C, Gage D, Nizzari M, Gabriel SB, Chirn GW, Ma Q, Parikh H, Richardson D, Ricke D, Purcell S.Genome-Wide Association Analysis Identifies Loci for Type 2 Diabetes and Triglyceride Levels.Science. 2007 Jun 1;316(5829):1331-6.
    17463246
  • , Eichler EE, Nickerson DA, Altshuler D, Bowcock AM, Brooks LD, Carter NP, Church DM, Felsenfeld A, Guyer M, Lee C, Lupski JR, Mullikin JC, Pritchard JK, Sebat J, Sherry ST, Smith D, Valle D, Waterston RH.Completing the map of human genetic variation.Nature. 2007 May 10;447(7141):161-5.
    17495918
  • Florez JC, Sjgren M, Agapakis CM, Burtt NP, Almgren P, Lindblad U, Berglund G, Tuomi T, Gaudet D, Daly MJ, Ardlie KG, Hirschhorn JN, Altshuler D, Groop L.Association testing of common variants in the insulin receptor substrate-1 gene (IRS1) with type 2 diabetes.Diabetologia. 2007 Jun;50(6):1209-17.
    17443311
  • Graham RR, Kyogoku C, Sigurdsson S, Vlasova IA, Davies LR, Baechler EC, Plenge RM, Koeuth T, Ortmann WA, Hom G, Bauer JW, Gillett C, Burtt N, Cunninghame Graham DS, Onofrio R, Petri M, Gunnarsson I, Svenungsson E, Ronnblom L, Nordmark G, Gregersen PK, Moser K, Gaffney PM, Criswell LA, Vyse TJ, Syvanen AC, Bohjanen PR, Daly MJ, Behrens TW, Altshuler D.Three functional variants of IFN regulatory factor 5 (IRF5) define risk and protective haplotypes for human lupus.Proc Natl Acad Sci U S A. 2007 Apr 17;104(16):6758-63.
    17412832
  • Sekine H, Ferreira RC, Pan-Hammarstrom Q, Graham RR, Ziemba B, de Vries SS, Liu J, Hippen K, Koeuth T, Ortmann W, Iwahori A, Elliott MK, Offer S, Skon C, Du L, Novitzke J, Lee AT, Zhao N, Tompkins JD, Altshuler D, Gregersen PK, Cunningham-Rundles C, Harris RS, Her C, Nelson DL, Hammarstrom L, Gilkeson GS, Behrens TW.Role for Msh5 in the regulation of Ig class switch recombination.Proc Natl Acad Sci U S A. 2007 Apr 24;104(17):7193-8.
    17409188
  • Haiman CA, Patterson N, Freedman ML, Myers SR, Pike MC, Waliszewska A, Neubauer J, Tandon A, Schirmer C, McDonald GJ, Greenway SC, Stram DO, Le Marchand L, Kolonel LN, Frasco M, Wong D, Pooler LC, Ardlie K, Oakley-Girvan I, Whittemore AS, Cooney KA, John EM, Ingles SA, Altshuler D, Henderson BE, Reich D.Multiple regions within 8q24 independently affect risk for prostate cancer.Nat Genet. 2007 May;39(5):638-44.
    17401364
  • Winckler W, Weedon MN, Graham RR, McCarroll SA, Purcell S, Almgren P, Tuomi T, Gaudet D, Bostrm KB, Walker M, Hitman G, Hattersley AT, McCarthy MI, Ardlie KG, Hirschhorn JN, Daly MJ, Frayling TM, Groop L, Altshuler D.Evaluation of common variants in the six known maturity-onset diabetes of the young (MODY) genes for association with type 2 diabetes.Diabetes. 2007 Mar;56(3):685-93.
    17327436
  • Haiman CA, Dossus L, Setiawan VW, Stram DO, Dunning AM, Thomas G, Thun MJ, Albanes D, Altshuler D, Ardanaz E, Boeing H, Buring J, Burtt N, Calle EE, Chanock S, Clavel-Chapelon F, Colditz GA, Cox DG, Feigelson HS, Hankinson SE, Hayes RB, Henderson BE, Hirschhorn JN, Hoover R, Hunter DJ, Kaaks R, Kolonel LN, Le Marchand L, Lenner P, Lund E, Panico S, Peeters PH, Pike MC, Riboli E, Tjonneland A, Travis R, Trichopoulos D, Wacholder S, Ziegler RG.Genetic variation at the CYP19A1 locus predicts circulating estrogen levels but not breast cancer risk in postmenopausal women.Cancer Res. 2007 Mar 1;67(5):1893-7.
    17325027
  • Florez JC, Jablonski KA, Kahn SE, Franks PW, Dabelea D, Hamman RF, Knowler WC, Nathan DM, Altshuler D.Type 2 diabetes-associated missense polymorphisms KCNJ11 E23K and ABCC8 A1369S influence progression to diabetes and response to interventions in the Diabetes Prevention Program.Diabetes. 2007 Feb;56(2):531-6.
    17259403
  • Florez JC, Jablonski KA, Sun MW, Bayley N, Kahn SE, Shamoon H, Hamman RF, Knowler WC, Nathan DM, Altshuler D,.Effects of the type 2 diabetes-associated PPARG P12A polymorphism on progression to diabetes and response to troglitazone.J Clin Endocrinol Metab. 2007 Apr;92(4):1502-9.
    17213274
  • Setiawan VW, Cheng I, Stram DO, Giorgi E, Pike MC, Van Den Berg D, Pooler L, Burtt NP, Le Marchand L, Altshuler D, Hirschhorn J, Henderson BE, Haiman CA.A systematic assessment of common genetic variation in CYP11A and risk of breast cancer.Cancer Res. 2006 Dec 15;66(24):12019-25.
    17178901
  • Florez JC, Saxena R, Winckler W, Burtt NP, Almgren P, Bengtsson Bostrm K, Tuomi T, Gaudet D, Ardlie KG, Daly MJ, Altshuler D, Hirschhorn JN, Groop L.The Krppel-like factor 11 (KLF11) Q62R polymorphism is not associated with type 2 diabetes in 8,676 people.Diabetes. 2006 Dec;55(12):3620-4.
    17130512
  • De Bakker PI, Graham RR, Altshuler D, Henderson BE, Haiman CA.Transferability of tag SNPs to capture common genetic variation in DNA repair genes across multiple populations.Pac Symp Biocomput. 2006:478-86.
    17094262
  • Lyon HN, Florez JC, Bersaglieri T, Saxena R, Winckler W, Almgren P, Lindblad U, Tuomi T, Gaudet D, Zhu X, Cooper R, Ardlie KG, Daly MJ, Altshuler D, Groop L, Hirschhorn JN.Common variants in the ENPP1 gene are not reproducibly associated with diabetes or obesity.Diabetes. 2006 Nov;55(11):3180-4.
    17065359
  • de Bakker PI, Burtt NP, Graham RR, Guiducci C, Yelensky R, Drake JA, Bersaglieri T, Penney KL, Butler J, Young S, Onofrio RC, Lyon HN, Stram DO, Haiman CA, Freedman ML, Zhu X, Cooper R, Groop L, Kolonel LN, Henderson BE, Daly MJ, Hirschhorn JN, Altshuler D.Transferability of tag SNPs in genetic association studies in multiple populations.Nat Genet. 2006 Nov;38(11):1298-303.
    17057720
  • Holmkvist J, Cervin C, Lyssenko V, Winckler W, Anevski D, Cilio C, Almgren P, Berglund G, Nilsson P, Tuomi T, Lindgren CM, Altshuler D, Groop L.Common variants in HNF-1 alpha and risk of type 2 diabetes.Diabetologia. 2006 Dec;49(12):2882-91.
    17033837
  • Saxena R, Gianniny L, Burtt NP, Lyssenko V, Giuducci C, Sjgren M, Florez JC, Almgren P, Isomaa B, Orho-Melander M, Lindblad U, Daly MJ, Tuomi T, Hirschhorn JN, Ardlie KG, Groop LC, Altshuler D.Common single nucleotide polymorphisms in TCF7L2 are reproducibly associated with type 2 diabetes and reduce the insulin response to glucose in nondiabetic individuals.Diabetes. 2006 Oct;55(10):2890-5.
    17003358
  • Freedman ML, Haiman CA, Patterson N, McDonald GJ, Tandon A, Waliszewska A, Penney K, Steen RG, Ardlie K, John EM, Oakley-Girvan I, Whittemore AS, Cooney KA, Ingles SA, Altshuler D, Henderson BE, Reich D.From the Cover: Admixture mapping identifies 8q24 as a prostate cancer risk locus in African-American men.Proc Natl Acad Sci U S A. 2006 Sep 19;103(38):14068-73.
    16945910
  • Maller J, George S, Purcell S, Fagerness J, Altshuler D, Daly MJ, Seddon JM.Common variation in three genes, including a noncoding variant in CFH, strongly influences risk of age-related macular degeneration.Nat Genet. 2006 Sep;38(9):1055-9.
    16936732
  • Freeman JL, Perry GH, Feuk L, Redon R, McCarroll SA, Altshuler DM, Aburatani H, Jones KW, Tyler-Smith C, Hurles ME, Carter NP, Scherer SW, Lee C.Copy number variation: New insights in genome diversity.Genome Res. 2006 Aug;16(8):949-61. Review.
    16809666
  • Florez JC, Jablonski KA, Bayley N, Pollin TI, de Bakker PI, Shuldiner AR, Knowler WC, Nathan DM, Altshuler D,.TCF7L2 polymorphisms and progression to diabetes in the Diabetes Prevention Program.N Engl J Med. 2006 Jul 20;355(3):241-50.
    16855264
  • Locke DP, Sharp AJ, McCarroll SA, McGrath SD, Newman TL, Cheng Z, Schwartz S, Albertson DG, Pinkel D, Altshuler DM, Eichler EE.Linkage Disequilibrium and Heritability of Copy-Number Polymorphisms within Duplicated Regions of the Human Genome.Am J Hum Genet. 2006 Aug;79(2):275-90.
    16826518
  • Sabeti PC, Schaffner SF, Fry B, Lohmueller J, Varilly P, Shamovsky O, Palma A, Mikkelsen TS, Altshuler D, Lander ES.Positive natural selection in the human lineage.Science. 2006 Jun 16;312(5780):1614-20. Review.
    16778047
  • Saxena R, de Bakker PI, Singer K, Mootha V, Burtt N, Hirschhorn JN, Gaudet D, Isomaa B, Daly MJ, Groop L, Ardlie KG, Altshuler D.Comprehensive association testing of common mitochondrial DNA variation in metabolic disease.Am J Hum Genet. 2006 Jul;79(1):54-61.
    16773565
  • Pe'er I, de Bakker PI, Maller J, Yelensky R, Altshuler D, Daly MJ.Evaluating and improving power in whole-genome association studies using fixed marker sets.Nat Genet. 2006 Jun;38(6):663-667.
    16715096
  • Graham RR, Kozyrev SV, Baechler EC, Reddy MV, Plenge RM, Bauer JW, Ortmann WA, Koeuth T, Escribano MF, Collaborative Groups TA, Pons-Estel B, Petri M, Daly M, Gregersen PK, Martn J, Altshuler D, Behrens TW, Alarcn-Riquelme ME.A common haplotype of interferon regulatory factor 5 (IRF5) regulates splicing and expression and is associated with increased risk of systemic lupus erythematosus.Nat Genet. 2006 May;38(5):550-555.
    16642019
  • Geiger AM, West CN, Nekhlyudov L, Herrinton LJ, Liu IL, Altschuler A, Rolnick SJ, Harris EL, Greene SM, Elmore JG, Emmons KM, Fletcher SW.Contentment with quality of life among breast cancer survivors with and without contralateral prophylactic mastectomy.J Clin Oncol. 2006 Mar 20;24(9):1350-6.
    16549829
  • Pe'er I, Chretien YR, de Bakker PI, Barrett JC, Daly MJ, Altshuler DM.Biases and reconciliation in estimates of linkage disequilibrium in the human genome.Am J Hum Genet. 2006 Apr;78(4):588-603.
    16532390
  • Sun MW, Lee JY, de Bakker PI, Burtt NP, Almgren P, Rstam L, Tuomi T, Gaudet D, Daly MJ, Hirschhorn JN, Altshuler D, Groop L, Florez JC.Haplotype structures and large-scale association testing of the 5' AMP-activated protein kinase genes PRKAA2, PRKAB1, and PRKAB2 [corrected] with type 2 diabetes.Diabetes. 2006 Mar;55(3):849-55.
    16505254
  • Feigelson HS, Cox DG, Cann HM, Wacholder S, Kaaks R, Henderson BE, Albanes D, Altshuler D, Berglund G, Berrino F, Bingham S, Buring JE, Burtt NP, Calle EE, Chanock SJ, Clavel-Chapelon F, Colditz G, Diver WR, Freedman ML, Haiman CA, Hankinson SE, Hayes RB, Hirschhorn JN, Hunter D, Kolonel LN, Kraft P, LeMarchand L, Linseisen J, Modi W, Navarro C, Peeters PH, Pike MC, Riboli E, Setiawan VW, Stram DO, Thomas G, Thun MJ, Tjonneland A, Trichopoulos D.Haplotype analysis of the HSD17B1 gene and risk of breast cancer: a comprehensive approach to multicenter analyses of prospective cohort studies.Cancer Res. 2006 Feb 15;66(4):2468-75.
    16489054
  • McCarroll SA, Hadnott TN, Perry GH, Sabeti PC, Zody MC, Barrett JC, Dallaire S, Gabriel SB, Lee C, Daly MJ, Altshuler DM,.Common deletion polymorphisms in the human genome.Nat Genet. 2006 Jan;38(1):86-92.
    16468122
  • Setiawan VW, Cheng I, Stram DO, Penney KL, Le Marchand L, Altshuler D, Kolonel LN, Hirschhorn J, Henderson BE, Freedman ML.Igf-I genetic variation and breast cancer: the multiethnic cohort.Cancer Epidemiol Biomarkers Prev. 2006 Jan;15(1):172-4.
    16434607
  • Bonnen PE, Pe'er I, Plenge RM, Salit J, Lowe JK, Shapero MH, Lifton RP, Breslow JL, Daly MJ, Reich DE, Jones KW, Stoffel M, Altshuler D, Friedman JM.Evaluating potential for whole-genome studies in Kosrae, an isolated population in Micronesia.Nat Genet. 2006 Feb;38(2):214-7.
    16429162
  • Cheng I, Stram DO, Penney KL, Pike M, Le Marchand L, Kolonel LN, Hirschhorn J, Altshuler D, Henderson BE, Freedman ML.Common genetic variation in IGF1 and prostate cancer risk in the Multiethnic Cohort.J Natl Cancer Inst. 2006 Jan 18;98(2):123-34.
    16418515
  • Florez JC, Wiltshire S, Agapakis CM, Burtt NP, de Bakker PI, Almgren P, Bengtsson Bostrm K, Tuomi T, Gaudet D, Daly MJ, Hirschhorn JN, McCarthy MI, Altshuler D, Groop L.High-density haplotype structure and association testing of the insulin-degrading enzyme (IDE) gene with type 2 diabetes in 4,206 people.Diabetes. 2006 Jan;55(1):128-35.
    16380485
  • Plenge RM, Padyukov L, Remmers EF, Purcell S, Lee AT, Karlson EW, Wolfe F, Kastner DL, Alfredsson L, Altshuler D, Gregersen PK, Klareskog L, Rioux JD.Replication of putative candidate-gene associations with rheumatoid arthritis in >4,000 samples from North America and Sweden: association of susceptibility with PTPN22, CTLA4, and PADI4.Am J Hum Genet. 2005 Dec;77(6):1044-60.
    16380915
  • Walsh EC, Sabeti P, Hutcheson HB, Fry B, Schaffner SF, de Bakker PI, Varilly P, Palma AA, Roy J, Cooper R, Winkler C, Zeng Y, de The G, Lander ES, O'brien S, Altshuler D.Searching for signals of evolutionary selection in 168 genes related to immune function.Hum Genet. 2006 Mar;119(1-2):92-102.
    16362345
  • Hunter DJ, Riboli E, Haiman CA, Albanes D, Altshuler D, Chanock SJ, Haynes RB, Henderson BE, Kaaks R, Stram DO, Thomas G, Thun MJ, Blanche H, Buring JE, Burtt NP, Calle EE, Cann H, Canzian F, Chen YC, Colditz GA, Cox DG, Dunning AM, Feigelson HS, Freedman ML, Gaziano JM, Giovannucci E, Hankinson SE, Hirschhorn JN, Hoover RN, Key T, Kolonel LN, Kraft P, Le Marchand L, Liu S, Ma J, Melnick S, Pharaoh P, Pike MC, Rodriguez C, Setiawan VW, Stampfer MJ, Trapido E, Travis R, Virtamo J, Wacholder S, Willett WC.A candidate gene approach to searching for low-penetrance breast and prostate cancer genes.Nat Rev Cancer. 2005 Dec;5(12):977-85.
    16341085
  • Kraft P, Pharoah P, Chanock SJ, Albanes D, Kolonel LN, Hayes RB, Altshuler D, Andriole G, Berg C, Boeing H, Burtt NP, Bueno-de-Mesquita B, Calle EE, Cann H, Canzian F, Chen YC, Crawford DE, Dunning AM, Feigelson HS, Freedman ML, Gaziano JM, Giovannucci E, Gonzalez CA, Haiman CA, Hallmans G, Henderson BE, Hirschhorn JN, Hunter DJ, Kaaks R, Key T, Le Marchand L, Ma J, Overvad K, Palli D, Pike MC, Riboli E, Rodriguez C, Setiawan WV, Stampfer MJ, Stram DO, Thomas G, Thun MJ, Travis R, Trichopoulou A, Virtamo J, Wacholder S.Genetic Variation in the HSD17B1 Gene and Risk of Prostate Cancer.PLoS Genet. 2005 Nov 25;1(5):e68.
    16311626
  • Altshuler D, Brooks LD, Chakravarti A, Collins FS, Daly MJ, Donnelly P,.A haplotype map of the human genome.Nature. 2005 Oct 27;437(7063):1299-320.
    16255080
  • Schaffner SF, Foo C, Gabriel S, Reich D, Daly MJ, Altshuler D.Calibrating a coalescent simulation of human genome sequence variation.Genome Res. 2005 Nov;15(11):1576-83.
    16251467
  • Sabeti PC, Walsh E, Schaffner SF, Varilly P, Fry B, Hutcheson HB, Cullen M, Mikkelsen TS, Roy J, Patterson N, Cooper R, Reich D, Altshuler D, O'Brien S, Lander ES.The case for selection at CCR5-Delta32.PLoS Biol. 2005 Nov;3(11):e378.
    16248677
  • de Bakker PI, Yelensky R, Pe'er I, Gabriel SB, Daly MJ, Altshuler D.Efficiency and power in genetic association studies.Nat Genet. 2005 Nov;37(11):1217-1223.
    16244653
  • Freedman ML, Penney KL, Stram DO, Riley S, McKean-Cowdin R, Le Marchand L, Altshuler D, Haiman CA.A haplotype-based case-control study of BRCA1 and sporadic breast cancer risk.Cancer Res. 2005 Aug 15;65(16):7516-22.
    16103107
  • Winckler W, Burtt NP, Holmkvist J, Cervin C, de Bakker PI, Sun M, Almgren P, Tuomi T, Gaudet D, Hudson TJ, Ardlie KG, Daly MJ, Hirschhorn JN, Altshuler D, Groop L.Association of common variation in the HNF1alpha gene region with risk of type 2 diabetes.Diabetes. 2005 Aug;54(8):2336-42.
    16046299
  • Campbell CD, Ogburn EL, Lunetta KL, Lyon HN, Freedman ML, Groop LC, Altshuler D, Ardlie KG, Hirschhorn JN.Demonstrating stratification in a European American population.Nat Genet. 2005 Aug;37(8):868-72.
    16041375
  • Altshuler D, Hirschhorn JN.MEF2A sequence variants and coronary artery disease: a change of heart?.J Clin Invest. 2005 Apr;115(4):831-3.
    15841171
  • Daly MJ, Altshuler D.Partners in crime.Nat Genet. 2005 Apr;37(4):337-8.
    15800643
  • Freedman ML, Pearce CL, Penney KL, Hirschhorn JN, Kolonel LN, Henderson BE, Altshuler D.Systematic evaluation of genetic variation at the androgen receptor locus and risk of prostate cancer in a multiethnic cohort study.Am J Hum Genet. 2005 Jan;76(1):82-90.
    15570555
  • Freedman ML, Reich D, Penney KL, McDonald GJ, Mignault AA, Patterson N, Gabriel SB, Topol EJ, Smoller JW, Pato CN, Pato MT, Petryshen TL, Kolonel LN, Lander ES, Sklar P, Henderson B, Hirschhorn JN, Altshuler D.Assessing the impact of population stratification on genetic association studies.Nat Genet. 2004 Apr;36(4):388-93.
    15052270
  • Stram DO, Haiman CA, Hirschhorn JN, Altshuler D, Kolonel LN, Henderson BE, Pike MC.Choosing haplotype-tagging SNPS based on unphased genotype data using a preliminary sample of unrelated subjects with an example from the Multiethnic Cohort Study.Hum Hered. 2003;55(1):27-36.
    12890923
  • Reich DE, Schaffner SF, Daly MJ, McVean G, Mullikin JC, Higgins JM, Richter DJ, Lander ES, Altshuler D.Human genome sequence variation and the influence of gene history, mutation and recombination.Nat Genet. 2002 Sep;32(1):135-42.
    12161752
  • Gabriel SB, Schaffner SF, Nguyen H, Moore JM, Roy J, Blumenstiel B, Higgins J, DeFelice M, Lochner A, Faggart M, Liu-Cordero SN, Rotimi C, Adeyemo A, Cooper R, Ward R, Lander ES, Daly MJ, Altshuler D.The structure of haplotype blocks in the human genome.Science. 2002 Jun 21;296(5576):2225-9.
    12029063
  • Engert JC, Vohl MC, Williams SM, Lepage P, Loredo-Osti JC, Faith J, Dor C, Renaud Y, Burtt NP, Villeneuve A, Hirschhorn JN, Altshuler D, Groop LC, Desprs JP, Gaudet D, Hudson TJ.5' flanking variants of resistin are associated with obesity.Diabetes. 2002 May;51(5):1629-34.
    11978666
  • Hirschhorn JN, Lindgren CM, Daly MJ, Kirby A, Schaffner SF, Burtt NP, Altshuler D, Parker A, Rioux JD, Platko J, Gaudet D, Hudson TJ, Groop LC, Lander ES.Genomewide linkage analysis of stature in multiple populations reveals several regions with evidence of linkage to adult height.Am J Hum Genet. 2001 Jul;69(1):106-16.
    11410839
  • Sachidanandam R, Weissman D, Schmidt SC, Kakol JM, Stein LD, Marth G, Sherry S, Mullikin JC, Mortimore BJ, Willey DL, Hunt SE, Cole CG, Coggill PC, Rice CM, Ning Z, Rogers J, Bentley DR, Kwok PY, Mardis ER, Yeh RT, Schultz B, Cook L, Davenport R, Dante M, Fulton L, Hillier L, Waterston RH, McPherson JD, Gilman B, Schaffner S, Van Etten WJ, Reich D, Higgins J, Daly MJ, Blumenstiel B, Baldwin J, Stange-Thomann N, Zody MC, Linton L, Lander ES, Altshuler D.A map of human genome sequence variation containing 1.42 million single nucleotide polymorphisms.Nature. 2001 Feb 15;409(6822):928-33.
    11237013
  • Cheung R, Altschuler MD, D'Amico AV, Malkowicz SB, Wein AJ, Whittington R.ROC optimization may improve risk stratification of prostate cancer patients.Urology. 2001 Feb;57(2):286-90.
    11182338
  • Moore KJ, Rosen ED, Fitzgerald ML, Randow F, Andersson LP, Altshuler D, Milstone DS, Mortensen RM, Spiegelman BM, Freeman MW.The role of PPAR-gamma in macrophage differentiation and cholesterol uptake.Nat Med. 2001 Jan;7(1):41-7.
    11135614
  • Altshuler D, Pollara VJ, Cowles CR, Van Etten WJ, Baldwin J, Linton L, Lander ES.An SNP map of the human genome generated by reduced representation shotgun sequencing.Nature. 2000 Sep 28;407(6803):513-6.
    11029002
  • Altshuler D, Daly M, Kruglyak L.Guilt by association.Nat Genet. 2000 Oct;26(2):135-7.
    11017062
  • Altshuler D, Hirschhorn JN, Klannemark M, Lindgren CM, Vohl MC, Nemesh J, Lane CR, Schaffner SF, Bolk S, Brewer C, Tuomi T, Gaudet D, Hudson TJ, Daly M, Groop L, Lander ES.The common PPARgamma Pro12Ala polymorphism is associated with decreased risk of type 2 diabetes.Nat Genet. 2000 Sep;26(1):76-80.
    10973253
  • Sidow A, Bulotsky MS, Kerrebrock AW, Birren BW, Altshuler D, Jaenisch R, Johnson KR, Lander ES.A novel member of the F-box/WD40 gene family, encoding dactylin, is disrupted in the mouse dactylaplasia mutant.Nat Genet. 1999 Sep;23(1):104-7.
    10471509
  • Altshuler D, Hirschhorn JN.Upsetting the balance: VGF and the regulation of body weight.Neuron. 1999 Jul;23(3):415-7.
    10433252
  • Cargill M, Altshuler D, Ireland J, Sklar P, Ardlie K, Patil N, Shaw N, Lane CR, Lim EP, Kalyanaraman N, Nemesh J, Ziaugra L, Friedland L, Rolfe A, Warrington J, Lipshutz R, Daley GQ, Lander ES.Characterization of single-nucleotide polymorphisms in coding regions of human genes.Nat Genet. 1999 Jul;22(3):231-8.
    10391209
  • Ross RK, Coetzee GA, Pearce CL, Reichardt JK, Bretsky P, Kolonel LN, Henderson BE, Lander E, Altshuler D, Daley G.Androgen metabolism and prostate cancer: establishing a model of genetic susceptibility.Eur Urol. 1999;35(5-6):355-61.
    10325489
  • Altshuler D, Kruglyak L, Lander E.Genetic polymorphisms and disease.N Engl J Med. 1998 May 28;338(22):1626.
    9606122
  • Altshuler D, Lo Turco JJ, Rush J, Cepko C.Taurine promotes the differentiation of a vertebrate retinal cell type in vitro.Development. 1993 Dec;119(4):1317-28.
    8306890
  • Altshuler D, Cepko C.A temporally regulated, diffusible activity is required for rod photoreceptor development in vitro.Development. 1992 Apr;114(4):947-57.
    1618156
  • Altshuler D, Lillien L.Control of photoreceptor development.Curr Opin Neurobiol. 1992 Feb;2(1):16-22.
    1638128