Works matching IS 10614036 AND DT 2014 AND VI 46 AND IP 12

Results: 26
    1
    2
    3

    Palindromic GOLGA8 core duplicons promote chromosome 15q13.3 microdeletion and evolutionary instability.

    Published in:
    Nature Genetics, 2014, v. 46, n. 12, p. 1293, doi. 10.1038/ng.3120
    By:
    • Antonacci, Francesca;
    • Miroballo, Mattia;
    • Dennis, Megan Y;
    • Sudmant, Peter H;
    • Malig, Maika;
    • Denman, Laura;
    • Munson, Brenton;
    • Huddleston, John;
    • Vives, Laura;
    • Raja, Archana;
    • Eichler, Evan E;
    • Steinberg, Karyn Meltz;
    • Graves, Tina A;
    • Wilson, Richard K;
    • Rosenfeld, Jill A;
    • Stuart, Andrew;
    • Tang, Joyce;
    • Amemiya, Chris T;
    • Shaffer, Lisa G
    Publication type:
    Article
    4
    5

    Trans-ancestry mutational landscape of hepatocellular carcinoma genomes.

    Published in:
    Nature Genetics, 2014, v. 46, n. 12, p. 1267, doi. 10.1038/ng.3126
    By:
    • Totoki, Yasushi;
    • Kato, Mamoru;
    • Nakamura, Hiromi;
    • Hama, Natsuko;
    • Hosoda, Fumie;
    • Arai, Yasuhito;
    • Urushidate, Tomoko;
    • Ohashi, Shoko;
    • Okada, Naoko;
    • Hayashi, Akimasa;
    • Shibahara, Junji;
    • Ishikawa, Shumpei;
    • Tanaka, Mariko;
    • Fukayama, Masashi;
    • Okusaka, Takuji;
    • Kokudo, Norihiro;
    • Shibata, Tatsuhiro;
    • Tatsuno, Kenji;
    • Ueda, Hiroki;
    • Tsuji, Shingo
    Publication type:
    Article
    6
    7

    Persimmon sex determination.

    Published in:
    Nature Genetics, 2014, v. 46, n. 12, p. 1257, doi. 10.1038/ng.3161
    By:
    • LaFlamme, Brooke
    Publication type:
    Article
    8

    RNF43 is frequently mutated in colorectal and endometrial cancers.

    Published in:
    Nature Genetics, 2014, v. 46, n. 12, p. 1264, doi. 10.1038/ng.3127
    By:
    • Giannakis, Marios;
    • Van Allen, Eliezer M;
    • Hahn, William C;
    • Garraway, Levi A;
    • Fuchs, Charles S;
    • Hodis, Eran;
    • Jasmine Mu, Xinmeng;
    • Rosenbluh, Joseph;
    • Yamauchi, Mai;
    • Qian, Zhi Rong;
    • Cibulskis, Kristian;
    • Saksena, Gordon;
    • Lawrence, Michael S;
    • Gabriel, Stacey B;
    • Nishihara, Reiko;
    • Lander, Eric S;
    • Getz, Gad;
    • Ogino, Shuji
    Publication type:
    Article
    9
    10

    Comprehensive variation discovery in single human genomes.

    Published in:
    Nature Genetics, 2014, v. 46, n. 12, p. 1350, doi. 10.1038/ng.3121
    By:
    • Weisenfeld, Neil I;
    • Yin, Shuangye;
    • Sharpe, Ted;
    • Lau, Bayo;
    • Hegarty, Ryan;
    • Holmes, Laurie;
    • Sogoloff, Brian;
    • Tabbaa, Diana;
    • Williams, Louise;
    • Russ, Carsten;
    • Nusbaum, Chad;
    • Lander, Eric S;
    • MacCallum, Iain;
    • Jaffe, David B
    Publication type:
    Article
    11
    12

    Common variants associated with general and MMR vaccine-related febrile seizures.

    Published in:
    Nature Genetics, 2014, v. 46, n. 12, p. 1274, doi. 10.1038/ng.3129
    By:
    • Feenstra, Bjarke;
    • Pasternak, Björn;
    • Geller, Frank;
    • Carstensen, Lisbeth;
    • Svanström, Henrik;
    • Hviid, Anders;
    • Wang, Tongfei;
    • Huang, Fen;
    • Jan, Lily Yeh;
    • Eitson, Jennifer L;
    • Schoggins, John W;
    • Hollegaard, Mads V;
    • Hougaard, David M;
    • Vestergaard, Mogens;
    • Melbye, Mads
    Publication type:
    Article
    13

    Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromes.

    Published in:
    Nature Genetics, 2014, v. 46, n. 12, p. 1327, doi. 10.1038/ng.3130
    By:
    • Schubert, Julian;
    • Becker, Felicitas;
    • Weber, Yvonne G;
    • Lerche, Holger;
    • Thiele, Holger;
    • Konrad, Kathryn;
    • Kawalia, Amit;
    • Toliat, Mohammad R;
    • Sander, Thomas;
    • Rüschendorf, Franz;
    • Caliebe, Almuth;
    • Nagel, Inga;
    • Kohl, Bernard;
    • Riesch, Erik;
    • Dorn, Thomas;
    • Baulac, Stephanie;
    • Møller, Rikke S;
    • Hjalgrim, Helle;
    • Jurkat-Rott, Karin;
    • Lehman-Horn, Frank
    Publication type:
    Article
    14

    Variation at HLA-DRB1 is associated with resistance to enteric fever.

    Published in:
    Nature Genetics, 2014, v. 46, n. 12, p. 1333, doi. 10.1038/ng.3143
    By:
    • Dunstan, Sarah J;
    • Phuong, Le Thi;
    • Lanh, Mai Ngoc;
    • Do, Tan;
    • Hon, Do Nu;
    • Aung, Tin;
    • Teo, Yik Ying;
    • Hibberd, Martin L;
    • Okada, Yukinori;
    • Raychaudhuri, Soumya;
    • Simmons, Cameron P;
    • Baker, Stephen;
    • de Bakker, Paul I W;
    • Hue, Nguyen Thi;
    • Khor, Chiea Chuen;
    • Han, Buhm;
    • Li, Zheng;
    • Sim, Kar Seng;
    • Foo, Jia Nee;
    • Tram, Trinh Thi Bich
    Publication type:
    Article
    15

    Leveraging population admixture to characterize the heritability of complex traits.

    Published in:
    Nature Genetics, 2014, v. 46, n. 12, p. 1356, doi. 10.1038/ng.3139
    By:
    • Zaitlen, Noah;
    • Franceschini, Nora;
    • Whitsel, Eric A;
    • Goodman, Phyllis G;
    • Hennis, Anselm J M;
    • Hsing, Ann;
    • Isaacs, William;
    • Kittles, Rick A;
    • Klein, Eric A;
    • Lange, Leslie A;
    • Nemesure, Barbara;
    • Reich, David;
    • Pasaniuc, Bogdan;
    • Rybicki, Benjamin A;
    • Stanford, Janet L;
    • Kooperberg, Charles;
    • Stevens, Victoria L;
    • Strom, Sara S;
    • Witte, John S;
    • Xu, Jianfeng
    Publication type:
    Article
    16

    Fine mapping with function.

    Published in:
    Nature Genetics, 2014, v. 46, n. 12, p. 1257, doi. 10.1038/ng.3160
    By:
    • Bahcall, Orli
    Publication type:
    Article
    17
    18
    19
    20
    21
    22

    Cohesin and chromosome loops.

    Published in:
    Nature Genetics, 2014, v. 46, n. 12, p. 1257, doi. 10.1038/ng.3159
    By:
    • Niemitz, Emily
    Publication type:
    Article
    23

    Corrigendum: Human somatic cell mutagenesis creates genetically tractable sarcomas.

    Published in:
    Nature Genetics, 2014, v. 46, n. 12, p. 1372, doi. 10.1038/ng1214-1372
    By:
    • Molyneux, Sam D;
    • Waterhouse, Paul D;
    • Shelton, Dawne;
    • Shao, Yang W;
    • Watling, Christopher M;
    • Tang, Qing-Lian;
    • Harris, Isaac S;
    • Dickson, Brendan C;
    • Tharmapalan, Pirashaanthy;
    • Sandve, Geir K;
    • Zhang, Xiaoyang;
    • Bailey, Swneke D;
    • Berman, Hal;
    • Wunder, Jay S;
    • Iszvak, Zsuzsanna;
    • Lupien, Mathieu;
    • Mak, Tak W;
    • Khokha, Rama
    Publication type:
    Article
    24
    25
    26

    Mutations in PLK4, encoding a master regulator of centriole biogenesis, cause microcephaly, growth failure and retinopathy.

    Published in:
    Nature Genetics, 2014, v. 46, n. 12, p. 1283, doi. 10.1038/ng.3122
    By:
    • Martin, Carol-Anne;
    • Klingseisen, Anna;
    • Bicknell, Louise S;
    • Leitch, Andrea;
    • Murray, Jennie E;
    • Hunt, David;
    • Ding, James;
    • Harley, Margaret E;
    • Heyn, Patricia;
    • Jackson, Andrew P;
    • Daire, Valérie Cormier;
    • Dollfus, Hélène;
    • Dupuis, Lucie;
    • Mendoza-Londono, Roberto;
    • Bashamboo, Anu;
    • McElreavey, Kenneth;
    • Kariminejad, Ariana;
    • Moore, Anthony T;
    • Saggar, Anand;
    • Schlechter, Catie
    Publication type:
    Article