Works matching IS 10614036 AND DT 2013 AND VI 45 AND IP 5

Results: 30
    1

    Genome-wide association analysis identifies a susceptibility locus for pulmonary arterial hypertension.

    Published in:
    Nature Genetics, 2013, v. 45, n. 5, p. 518, doi. 10.1038/ng.2581
    By:
    • Germain, Marine;
    • Eyries, Mélanie;
    • Montani, David;
    • Poirier, Odette;
    • Girerd, Barbara;
    • Dorfmüller, Peter;
    • Coulet, Florence;
    • Nadaud, Sophie;
    • Maugenre, Svetlana;
    • Guignabert, Christophe;
    • Carpentier, Wassila;
    • Vonk-Noordegraaf, Anton;
    • Lévy, Marilyne;
    • Chaouat, Ari;
    • Lambert, Jean-Charles;
    • Bertrand, Marion;
    • Dupuy, Anne-Marie;
    • Letenneur, Luc;
    • Lathrop, Mark;
    • Amouyel, Philippe
    Publication type:
    Article
    2

    Genomics of Loa loa, a Wolbachia-free filarial parasite of humans.

    Published in:
    Nature Genetics, 2013, v. 45, n. 5, p. 495, doi. 10.1038/ng.2585
    By:
    • Desjardins, Christopher A;
    • Cerqueira, Gustavo C;
    • Goldberg, Jonathan M;
    • Hotopp, Julie C Dunning;
    • Haas, Brian J;
    • Zucker, Jeremy;
    • Ribeiro, José M C;
    • Saif, Sakina;
    • Levin, Joshua Z;
    • Fan, Lin;
    • Zeng, Qiandong;
    • Russ, Carsten;
    • Wortman, Jennifer R;
    • Fink, Doran L;
    • Birren, Bruce W;
    • Nutman, Thomas B
    Publication type:
    Article
    3

    Mutations in DEPDC5 cause familial focal epilepsy with variable foci.

    Published in:
    Nature Genetics, 2013, v. 45, n. 5, p. 546, doi. 10.1038/ng.2599
    By:
    • Dibbens, Leanne M;
    • de Vries, Boukje;
    • Donatello, Simona;
    • Heron, Sarah E;
    • Hodgson, Bree L;
    • Chintawar, Satyan;
    • Crompton, Douglas E;
    • Hughes, James N;
    • Bellows, Susannah T;
    • Klein, Karl Martin;
    • Callenbach, Petra M C;
    • Corbett, Mark A;
    • Gardner, Alison E;
    • Kivity, Sara;
    • Iona, Xenia;
    • Regan, Brigid M;
    • Weller, Claudia M;
    • Crimmins, Denis;
    • O'Brien, Terence J;
    • Guerrero-López, Rosa
    Publication type:
    Article
    4

    Raising standards.

    Published in:
    Nature Genetics, 2013, v. 45, n. 5, p. 467, doi. 10.1038/ng.2621
    Publication type:
    Article
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    The high-quality draft genome of peach (Prunus persica) identifies unique patterns of genetic diversity, domestication and genome evolution.

    Published in:
    Nature Genetics, 2013, v. 45, n. 5, p. 487, doi. 10.1038/ng.2586
    By:
    • Verde, Ignazio;
    • Abbott, Albert G;
    • Scalabrin, Simone;
    • Jung, Sook;
    • Shu, Shengqiang;
    • Marroni, Fabio;
    • Zhebentyayeva, Tatyana;
    • Dettori, Maria Teresa;
    • Grimwood, Jane;
    • Cattonaro, Federica;
    • Zuccolo, Andrea;
    • Rossini, Laura;
    • Jenkins, Jerry;
    • Vendramin, Elisa;
    • Meisel, Lee A;
    • Decroocq, Veronique;
    • Sosinski, Bryon;
    • Prochnik, Simon;
    • Mitros, Therese;
    • Policriti, Alberto
    Publication type:
    Article
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    Mutations in STAMBP, encoding a deubiquitinating enzyme, cause microcephaly-capillary malformation syndrome.

    Published in:
    Nature Genetics, 2013, v. 45, n. 5, p. 556, doi. 10.1038/ng.2602
    By:
    • McDonell, Laura M;
    • Mirzaa, Ghayda M;
    • Alcantara, Diana;
    • Schwartzentruber, Jeremy;
    • Carter, Melissa T;
    • Lee, Leo J;
    • Clericuzio, Carol L;
    • Graham, John M;
    • Morris-Rosendahl, Deborah J;
    • Polster, Tilman;
    • Acsadi, Gyula;
    • Townshend, Sharron;
    • Williams, Simon;
    • Halbert, Anne;
    • Isidor, Bertrand;
    • David, Albert;
    • Smyser, Christopher D;
    • Paciorkowski, Alex R;
    • Willing, Marcia;
    • Woulfe, John
    Publication type:
    Article
    12

    Exome and whole-genome sequencing of esophageal adenocarcinoma identifies recurrent driver events and mutational complexity.

    Published in:
    Nature Genetics, 2013, v. 45, n. 5, p. 478, doi. 10.1038/ng.2591
    By:
    • Dulak, Austin M;
    • Stojanov, Petar;
    • Peng, Shouyong;
    • Lawrence, Michael S;
    • Fox, Cameron;
    • Stewart, Chip;
    • Bandla, Santhoshi;
    • Imamura, Yu;
    • Schumacher, Steven E;
    • Shefler, Erica;
    • McKenna, Aaron;
    • Carter, Scott L;
    • Cibulskis, Kristian;
    • Sivachenko, Andrey;
    • Saksena, Gordon;
    • Voet, Douglas;
    • Ramos, Alex H;
    • Auclair, Daniel;
    • Thompson, Kristin;
    • Sougnez, Carrie
    Publication type:
    Article
    13

    Motif-driven enhancer assay.

    Published in:
    Nature Genetics, 2013, v. 45, n. 5, p. 477, doi. 10.1038/ng.2632
    By:
    • Bahcall, Orli
    Publication type:
    Article
    14

    Recessive mutations in DGKE cause atypical hemolytic-uremic syndrome.

    Published in:
    Nature Genetics, 2013, v. 45, n. 5, p. 531, doi. 10.1038/ng.2590
    By:
    • Lemaire, Mathieu;
    • Frémeaux-Bacchi, Véronique;
    • Schaefer, Franz;
    • Choi, Murim;
    • Tang, Wai Ho;
    • Le Quintrec, Moglie;
    • Fakhouri, Fadi;
    • Taque, Sophie;
    • Nobili, François;
    • Martinez, Frank;
    • Ji, Weizhen;
    • Overton, John D;
    • Mane, Shrikant M;
    • Nürnberg, Gudrun;
    • Altmüller, Janine;
    • Thiele, Holger;
    • Morin, Denis;
    • Deschenes, Georges;
    • Baudouin, Véronique;
    • Llanas, Brigitte
    Publication type:
    Article
    15

    DGKE and atypical HUS.

    Published in:
    Nature Genetics, 2013, v. 45, n. 5, p. 475, doi. 10.1038/ng.2622
    By:
    • Quaggin, Susan E
    Publication type:
    Article
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    SMIM1 underlies the Vel blood group and influences red blood cell traits.

    Published in:
    Nature Genetics, 2013, v. 45, n. 5, p. 542, doi. 10.1038/ng.2603
    By:
    • Cvejic, Ana;
    • Haer-Wigman, Lonneke;
    • Stephens, Jonathan C;
    • Kostadima, Myrto;
    • Smethurst, Peter A;
    • Frontini, Mattia;
    • van den Akker, Emile;
    • Bertone, Paul;
    • Bielczyk-Maczyńska, Ewa;
    • Farrow, Samantha;
    • Fehrmann, Rudolf S N;
    • Gray, Alan;
    • de Haas, Masja;
    • Haver, Vincent G;
    • Jordan, Gregory;
    • Karjalainen, Juha;
    • Kerstens, Hindrik H D;
    • Kiddle, Graham;
    • Lloyd-Jones, Heather;
    • Needs, Malcolm
    Publication type:
    Article
    19
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    Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.

    Published in:
    Nature Genetics, 2013, v. 45, n. 5, p. 501, doi. 10.1038/ng.2606
    By:
    • Berndt, Sonja I;
    • Gustafsson, Stefan;
    • Mägi, Reedik;
    • Ganna, Andrea;
    • Wheeler, Eleanor;
    • Feitosa, Mary F;
    • Justice, Anne E;
    • Monda, Keri L;
    • Croteau-Chonka, Damien C;
    • Day, Felix R;
    • Esko, Tõnu;
    • Fall, Tove;
    • Ferreira, Teresa;
    • Gentilini, Davide;
    • Jackson, Anne U;
    • Luan, Jian'an;
    • Randall, Joshua C;
    • Vedantam, Sailaja;
    • Willer, Cristen J;
    • Winkler, Thomas W
    Publication type:
    Article
    21

    POT1 mutations cause telomere dysfunction in chronic lymphocytic leukemia.

    Published in:
    Nature Genetics, 2013, v. 45, n. 5, p. 526, doi. 10.1038/ng.2584
    By:
    • Ramsay, Andrew J;
    • Quesada, Víctor;
    • Foronda, Miguel;
    • Conde, Laura;
    • Martínez-Trillos, Alejandra;
    • Villamor, Neus;
    • Rodríguez, David;
    • Kwarciak, Agnieszka;
    • Garabaya, Cecilia;
    • Gallardo, Mercedes;
    • López-Guerra, Mónica;
    • López-Guillermo, Armando;
    • Puente, Xose S;
    • Blasco, María A;
    • Campo, Elías;
    • López-Otín, Carlos
    Publication type:
    Article
    22

    Crowdsourcing genetic prediction of clinical utility in the Rheumatoid Arthritis Responder Challenge.

    Published in:
    Nature Genetics, 2013, v. 45, n. 5, p. 468, doi. 10.1038/ng.2623
    By:
    • Plenge, Robert M;
    • Greenberg, Jeffrey D;
    • Mangravite, Lara M;
    • Derry, Jonathan M J;
    • Stahl, Eli A;
    • Coenen, Marieke J H;
    • Barton, Anne;
    • Padyukov, Leonid;
    • Klareskog, Lars;
    • Gregersen, Peter K;
    • Mariette, Xavier;
    • Moreland, Larry W;
    • Bridges, S Louis;
    • de Vries, Niek;
    • Huizinga, Tom W J;
    • Guchelaar, Henk-Jan;
    • Friend, Stephen H;
    • Stolovitzky, Gustavo
    Publication type:
    Article
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    The genome of the platyfish, Xiphophorus maculatus, provides insights into evolutionary adaptation and several complex traits.

    Published in:
    Nature Genetics, 2013, v. 45, n. 5, p. 567, doi. 10.1038/ng.2604
    By:
    • Schartl, Manfred;
    • Walter, Ronald B;
    • Shen, Yingjia;
    • Garcia, Tzintzuni;
    • Catchen, Julian;
    • Amores, Angel;
    • Braasch, Ingo;
    • Chalopin, Domitille;
    • Volff, Jean-Nicolas;
    • Lesch, Klaus-Peter;
    • Bisazza, Angelo;
    • Minx, Pat;
    • Hillier, LaDeana;
    • Wilson, Richard K;
    • Fuerstenberg, Susan;
    • Boore, Jeffrey;
    • Searle, Steve;
    • Postlethwait, John H;
    • Warren, Wesley C
    Publication type:
    Article
    26

    The CCND1 c.870G>A polymorphism is a risk factor for t(11;14)(q13;q32) multiple myeloma.

    Published in:
    Nature Genetics, 2013, v. 45, n. 5, p. 522, doi. 10.1038/ng.2583
    By:
    • Weinhold, Niels;
    • Johnson, David C;
    • Chubb, Daniel;
    • Chen, Bowang;
    • Försti, Asta;
    • Hosking, Fay J;
    • Broderick, Peter;
    • Ma, Yussanne P;
    • Dobbins, Sara E;
    • Hose, Dirk;
    • Walker, Brian A;
    • Davies, Faith E;
    • Kaiser, Martin F;
    • Li, Ni L;
    • Gregory, Walter A;
    • Jackson, Graham H;
    • Witzens-Harig, Mathias;
    • Neben, Kai;
    • Hoffmann, Per;
    • Nöthen, Markus M
    Publication type:
    Article
    27
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    Mutations of DEPDC5 cause autosomal dominant focal epilepsies.

    Published in:
    Nature Genetics, 2013, v. 45, n. 5, p. 552, doi. 10.1038/ng.2601
    By:
    • Ishida, Saeko;
    • Picard, Fabienne;
    • Rudolf, Gabrielle;
    • Noé, Eric;
    • Achaz, Guillaume;
    • Thomas, Pierre;
    • Genton, Pierre;
    • Mundwiller, Emeline;
    • Wolff, Markus;
    • Marescaux, Christian;
    • Miles, Richard;
    • Baulac, Michel;
    • Hirsch, Edouard;
    • Leguern, Eric;
    • Baulac, Stéphanie
    Publication type:
    Article
    29

    PAK inhibitor in fragile X.

    Published in:
    Nature Genetics, 2013, v. 45, n. 5, p. 477, doi. 10.1038/ng.2629
    By:
    • Feliciano, Pamela
    Publication type:
    Article
    30