Works by Altshuler, David


Results: 119
    1

    The Case for Selection at CCR5-Δ32.

    Published in:
    PLoS Biology, 2005, v. 3, n. 11, p. 1963, doi. 10.1371/journal.pbio.0030378
    By:
    • Sabeti, Pardis C.;
    • Walsh, Emily;
    • Schaffner, Steve F.;
    • Varilly, Patrick;
    • Fry, Ben;
    • Hutcheson, Holli B.;
    • Cullen, Mike;
    • Mikkelsen, Tarjei S.;
    • Roy, Jessica;
    • Patterson, Nick;
    • Cooper, Richard;
    • Reich, David;
    • Altshuler, David;
    • O'Brien, Stephen;
    • Lander, Eric S.
    Publication type:
    Article
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    Replicating genotype–phenotype associations.

    Published in:
    Nature, 2007, v. 447, n. 7145, p. 655, doi. 10.1038/447655a
    By:
    • Chanock, Stephen J.;
    • Manolio, Teri;
    • Boehnke, Michael;
    • Boerwinkle, Eric;
    • Hunter, David J.;
    • Thomas, Gilles;
    • Hirschhorn, Joel N.;
    • Abecasis, Goncalo;
    • Altshuler, David;
    • Bailey-Wilson, Joan E.;
    • Brooks, Lisa D.;
    • Cardon, Lon R.;
    • Daly, Mark;
    • Donnelly, Peter;
    • Fraumeni, Joseph F.;
    • Freimer, Nelson B.;
    • Gerhard, Daniela S.;
    • Gunter, Chris;
    • Guttmacher, Alan E.;
    • Guyer, Mark S.
    Publication type:
    Article
    8

    Completing the map of human genetic variation.

    Published in:
    Nature, 2007, v. 447, n. 7141, p. 161, doi. 10.1038/447161a
    By:
    • Eichler, Evan E.;
    • Nickerson, Deborah A.;
    • Altshuler, David;
    • Bowcock, Anne M.;
    • Brooks, Lisa D.;
    • Carter, Nigel P.;
    • Church, Deanna M.;
    • Felsenfeld, Adam;
    • Guyer, Mark;
    • Lee, Charles;
    • Lupski, James R.;
    • Mullikin, James C.;
    • Pritchard, Jonathan K.;
    • Sebat, Jonathan;
    • Sherry, Stephen T.;
    • Smith, Douglas;
    • Valle, David;
    • Waterston, Robert H.
    Publication type:
    Article
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    A framework for variation discovery and genotyping using next-generation DNA sequencing data.

    Published in:
    Nature Genetics, 2011, v. 43, n. 5, p. 491, doi. 10.1038/ng.806
    By:
    • DePristo, Mark A.;
    • Banks, Eric;
    • Poplin, Ryan;
    • Garimella, Kiran V.;
    • Maguire, Jared R.;
    • Hartl, Christopher;
    • Philippakis, Anthony A.;
    • del Angel, Guillermo;
    • Rivas, Manuel A.;
    • Hanna, Matt;
    • McKenna, Aaron;
    • Fennell, Tim J.;
    • Kernytsky, Andrew M.;
    • Sivachenko, Andrey Y.;
    • Cibulskis, Kristian;
    • Gabriel, Stacey B.;
    • Altshuler, David;
    • Daly, Mark J.
    Publication type:
    Article
    16

    Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease.

    Published in:
    Nature Genetics, 2011, v. 43, n. 4, p. 333, doi. 10.1038/ng.784
    By:
    • Schunkert, Heribert;
    • König, Inke R.;
    • Kathiresan, Sekar;
    • Reilly, Muredach P.;
    • Assimes, Themistocles L.;
    • Holm, Hilma;
    • Preuss, Michael;
    • Stewart, Alexandre F. R.;
    • Barbalic, Maja;
    • Gieger, Christian;
    • Absher, Devin;
    • Aherrahrou, Zouhair;
    • Allayee, Hooman;
    • Altshuler, David;
    • Anand, Sonia S;
    • Andersen, Karl;
    • Anderson, Jeffrey L.;
    • Ardissino, Diego;
    • Ball, Stephen G.;
    • Balmforth, Anthony J.
    Publication type:
    Article
    17

    High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency.

    Published in:
    Nature Genetics, 2010, v. 42, n. 10, p. 851, doi. 10.1038/ng.659
    By:
    • Calvo, Sarah E.;
    • Tucker, Elena J.;
    • Compton, Alison G.;
    • Kirby, Denise M.;
    • Crawford, Gabriel;
    • Burtt, Noel P.;
    • Rivas, Manuel;
    • Guiducci, Candace;
    • Bruno, Damien L.;
    • Goldberger, Olga A.;
    • Redman, Michelle C.;
    • Wiltshire, Esko;
    • Wilson, Callum J.;
    • Altshuler, David;
    • Gabriel, Stacey B.;
    • Daly, Mark J.;
    • Thorburn, David R.;
    • Mootha, Vamsi K.
    Publication type:
    Article
    18

    Donor-recipient mismatch for common gene deletion polymorphisms in graft-versus-host disease.

    Published in:
    Nature Genetics, 2009, v. 41, n. 12, p. 1341, doi. 10.1038/ng.490
    By:
    • McCarroll, Steven A.;
    • Bradner, James E.;
    • Turpeinen, Hannu;
    • Volin, Liisa;
    • Martin, Paul J.;
    • Chilewski, Shannon D.;
    • Antin, Joseph H.;
    • Lee, Stephanie J.;
    • Ruutu, Tapani;
    • Storer, Barry;
    • Warren, Edus H.;
    • Bo Zhang;
    • Lue Ping Zhao;
    • Ginsburg, David;
    • Soiffer, Robert J.;
    • Partanen, Jukka;
    • Hansen, John A.;
    • Ritz, Jerome;
    • Palotie, Aarno;
    • Altshuler, David
    Publication type:
    Article
    19

    A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium.

    Published in:
    Nature Genetics, 2009, v. 41, n. 11, p. 1182, doi. 10.1038/ng.467
    By:
    • Soranzo, Nicole;
    • Spector, Tim D.;
    • Mangino, Massimo;
    • Kühnel, Brigitte;
    • Rendon, Augusto;
    • Teumer, Alexander;
    • Willenborg, Christina;
    • Wright, Benjamin;
    • Li Chen;
    • Mingyao Li;
    • Salo, Perttu;
    • Voight, Benjamin F.;
    • Burns, Philippa;
    • Laskowski, Roman A.;
    • Yali Xue;
    • Menzel, Stephan;
    • Altshuler, David;
    • Bradley, John R.;
    • Bumpstead, Suzannah;
    • Burnett, Mary-Susan
    Publication type:
    Article
    20

    De novo copy number variants identify new genes and loci in isolated sporadic tetralogy of Fallot.

    Published in:
    Nature Genetics, 2009, v. 41, n. 8, p. 931, doi. 10.1038/ng.415
    By:
    • Greenway, Steven C.;
    • Pereira, Alexandre C.;
    • Lin, Jennifer C.;
    • DePalma, Steven R.;
    • Israel, Samuel J.;
    • Mesquita, Sonia M.;
    • Ergul, Emel;
    • Conta, Jessie H.;
    • Korn, Joshua M.;
    • McCarroll, Steven A.;
    • Gorham, Joshua M.;
    • Gabriel, Stacey;
    • Altshuler, David M.;
    • Quintanilla-Dieck, Maria de Lourdes;
    • Artunduaga, Maria Alexandra;
    • Eavey, Roland D.;
    • Plenge, Robert M.;
    • Shadick, Nancy A.;
    • Weinblatt, Michael E.;
    • De Jager, Philip L.
    Publication type:
    Article
    21

    Common variant in MTNR1B associated with increased risk of type 2 diabetes and impaired early insulin secretion.

    Published in:
    Nature Genetics, 2009, v. 41, n. 1, p. 82, doi. 10.1038/ng.288
    By:
    • Lyssenko, Valeriya;
    • Nagorny, Cecilia L. F.;
    • Erdos, Michael R.;
    • Wierup, Nils;
    • Jonsson, Anna;
    • Spégel, Peter;
    • Bugliani, Marco;
    • Saxena, Richa;
    • Fex, Malin;
    • Pulizzi, Nicolo;
    • Isomaa, Bo;
    • Tuomi, Tiinamaija;
    • Nilsson, Peter;
    • Kuusisto, Johanna;
    • Tuomilehto, Jaakko;
    • Boehnke, Michael;
    • Altshuler, David;
    • Sundler, Frank;
    • Eriksson, Johan G.;
    • Jackson, Anne U.
    Publication type:
    Article
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    Genetic variants near TNFAIP3 on 6q23 are associated with systemic lupus erythematosus.

    Published in:
    Nature Genetics, 2008, v. 40, n. 9, p. 1059, doi. 10.1038/ng.200
    By:
    • Graham, Robert R.;
    • Cotsapas, Chris;
    • Davies, Leela;
    • Hackett, Rachel;
    • Lessard, Christopher J.;
    • Leon, Joanlise M.;
    • Burtt, Noel P.;
    • Guiducci, Candace;
    • Parkin, Melissa;
    • Gates, Casey;
    • Plenge, Robert M.;
    • Behrens, Timothy W.;
    • Wither, Joan E.;
    • Rioux, John D.;
    • Fortin, Paul R.;
    • Graham, Deborah Cunninghame;
    • Wong, Andrew K.;
    • Vyse, Timothy J.;
    • Daly, Mark J.;
    • Altshuler, David
    Publication type:
    Article
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    Guilt beyond a reasonable doubt.

    Published in:
    Nature Genetics, 2007, v. 39, n. 7, p. 813, doi. 10.1038/ng0707-813
    By:
    • Altshuler, David;
    • Daly, Mark
    Publication type:
    Article
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    A common haplotype of interferon regulatory factor 5 (IRF5) regulates splicing and expression and is associated with increased risk of systemic lupus erythematosus.

    Published in:
    Nature Genetics, 2006, v. 38, n. 5, p. 550, doi. 10.1038/ng1782
    By:
    • Graham, Robert R.;
    • Kozyrev, Sergey V.;
    • Baechler, Emily C.;
    • Reddy, M. V. Prasad Linga;
    • Plenge, Robert M.;
    • Bauer, Jason W.;
    • Ortmann, Ward A.;
    • Koeuth, Thearith;
    • Escribano, Ma Francisca González;
    • Pons-Estel, Bernardo;
    • Petri, Michelle;
    • Daly, Mark;
    • Gregersen, Peter K.;
    • Martín, Javier;
    • Altshuler, David;
    • Behrens, Timothy W.;
    • Alarcón-Riquelme, Marta E.
    Publication type:
    Article
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    Common deletion polymorphisms in the human genome.

    Published in:
    Nature Genetics, 2006, v. 38, n. 1, p. 86, doi. 10.1038/ng1696
    By:
    • McCarroll, Steven A.;
    • Hadnott, Tracy N.;
    • Perry, George H.;
    • Sabeti, Pardis C.;
    • Zody, Michael C.;
    • Barrett, Jeffrey C.;
    • Dallaire, Stephanie;
    • Gabriel, Stacey B.;
    • Lee, Charles;
    • Daly, Mark J.;
    • Altshuler, David M.
    Publication type:
    Article
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    Demonstrating stratification in a European American population.

    Published in:
    Nature Genetics, 2005, v. 37, n. 8, p. 868, doi. 10.1038/ng1607
    By:
    • Campbell, Catarina D.;
    • Ogburn, Elizabeth L.;
    • Lunetta, Kathryn L.;
    • Lyon, Helen N.;
    • Freedman, Matthew L.;
    • Groop, Leif C.;
    • Altshuler, David;
    • Ardlie, Kristin G.;
    • Hirschhorn, Joel N.
    Publication type:
    Article
    36

    Partners in crime.

    Published in:
    Nature Genetics, 2005, v. 37, n. 4, p. 337, doi. 10.1038/ng0405-337
    By:
    • Daly, Mark J.;
    • Altshuler, David
    Publication type:
    Article
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    Assessing the impact of population stratification on genetic association studies.

    Published in:
    Nature Genetics, 2004, v. 36, n. 4, p. 388, doi. 10.1038/ng1333
    By:
    • Freedman, Matthew L.;
    • Reich, David;
    • Penney, Kathryn L.;
    • McDonald, Gavin J.;
    • Mignault, Andre A.;
    • Patterson, Nick;
    • Gabriel, Stacey B.;
    • Topol, Eric J.;
    • Smoller, Jordan W.;
    • Pato, Carlos N.;
    • Pato, Michele T.;
    • Petryshen, Tracey L.;
    • Kolonel, Laurence N.;
    • Lander, Eric S.;
    • Sklar, Pamela;
    • Henderson, Brian;
    • Hirschhorn, Joel N.;
    • Altshuler, David
    Publication type:
    Article
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    Guilt by association.

    Published in:
    Nature Genetics, 2000, v. 26, n. 2, p. 135, doi. 10.1038/79839
    By:
    • Altshuler, David;
    • Daly, Mark;
    • Kruglyak, Leonid
    Publication type:
    Article
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    Characterization of single-nucleotide polymorphisms in coding regions of human genes.

    Published in:
    Nature Genetics, 1999, v. 22, n. 3, p. 231, doi. 10.1038/10290
    By:
    • Cargill, Michele;
    • Altshuler, David;
    • Ireland, James;
    • Sklar, Pamela;
    • Ardlie, Kristin;
    • Patil, Nila;
    • Lane, Charles R.;
    • Lim, Esther P.;
    • Kalyanaraman, Nilesh;
    • Nemesh, James;
    • Ziaugra, Liuda;
    • Friedland, Lisa;
    • Rolfe, Alex;
    • Warrington, Janet;
    • Lipshutz, Robert;
    • Daley, George Q.;
    • Lander, Eric S.
    Publication type:
    Article
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    Testing for an Unusual Distribution of Rare Variants.

    Published in:
    PLoS Genetics, 2011, v. 7, n. 3, p. 1, doi. 10.1371/journal.pgen.1001322
    By:
    • Neale, Benjamin M.;
    • Rivas, Manuel A.;
    • Voight, Benjamin F.;
    • Altshuler, David;
    • Devlin, Bernie;
    • Orho-Melander, Marju;
    • Kathiresan, Sekar;
    • Purcell, Shaun M.;
    • Roeder, Kathryn;
    • Daly, Mark J.
    Publication type:
    Article
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    Genetic Analysis of Human Traits In Vitro: Drug Response and Gene Expression in Lymphoblastoid Cell Lines.

    Published in:
    PLoS Genetics, 2008, v. 4, n. 11, p. 1, doi. 10.1371/journal.pgen.1000287
    By:
    • Choy, Edwin;
    • Yelensky, Roman;
    • Bonakdar, Sasha;
    • Plenge, Robert M.;
    • Saxena, Richa;
    • De Jager, Philip L.;
    • Shaw, Stanley Y.;
    • Wolfish, Cara S.;
    • Slavik, Jacqueline M.;
    • Cotsapas, Chris;
    • Rivas, Manuel;
    • Dermitzakis, Emmanouil T.;
    • Cahir-McFarland, Ellen;
    • Kieff, Elliott;
    • Hafler, David;
    • Daly, Mark J.;
    • Altshuler, David
    Publication type:
    Article