Works matching IS 10614036 AND DT 2015 AND VI 47 AND IP 7


Results: 26
    1
    2

    The European Genome-phenome Archive of human data consented for biomedical research.

    Published in:
    Nature Genetics, 2015, v. 47, n. 7, p. 692, doi. 10.1038/ng.3312
    By:
    • Lappalainen, Ilkka;
    • Almeida-King, Jeff;
    • Kumanduri, Vasudev;
    • Senf, Alexander;
    • Spalding, John Dylan;
    • ur-Rehman, Saif;
    • Saunders, Gary;
    • Kandasamy, Jag;
    • Caccamo, Mario;
    • Leinonen, Rasko;
    • Vaughan, Brendan;
    • Laurent, Thomas;
    • Rowland, Francis;
    • Marin-Garcia, Pablo;
    • Barker, Jonathan;
    • Jokinen, Petteri;
    • Medina, Ignacio;
    • Paschall, Justin;
    • Flicek, Paul;
    • Torres, Angel Carreño
    Publication type:
    Article
    3

    A partially inactivating mutation in the sodium-dependent lysophosphatidylcholine transporter MFSD2A causes a non-lethal microcephaly syndrome.

    Published in:
    Nature Genetics, 2015, v. 47, n. 7, p. 814, doi. 10.1038/ng.3313
    By:
    • Alakbarzade, Vafa;
    • Warner, Thomas T;
    • Hameed, Abdul;
    • Quek, Debra Q Y;
    • Nguyen, Long N;
    • Silver, David L;
    • Chioza, Barry A;
    • Sreekantan-Nair, Ajith;
    • Weedon, Michael N;
    • Crosby, Andrew H;
    • Baple, Emma L;
    • Cazenave-Gassiot, Amaury;
    • Wenk, Markus R;
    • Ahmad, Arshia Q;
    • Rich, Phil;
    • Patton, Michael A
    Publication type:
    Article
    4

    Spatial genomic heterogeneity within localized, multifocal prostate cancer.

    Published in:
    Nature Genetics, 2015, v. 47, n. 7, p. 736, doi. 10.1038/ng.3315
    By:
    • Boutros, Paul C;
    • Lambin, Philippe;
    • Cooper, Colin;
    • Eeles, Rosalind;
    • Neal, David;
    • Tetu, Bernard;
    • Fleshner, Neil;
    • Shah, Sohrab P;
    • Collins, Colin C;
    • Bristow, Robert G;
    • Fraser, Michael;
    • Zafarana, Gaetano;
    • Harding, Nicholas J;
    • de Borja, Richard;
    • Hennings-Yeomans, Pablo H;
    • Sabelnykova, Veronica Y;
    • Zia, Amin;
    • Livingstone, Julie;
    • Shiah, Yu-Jia;
    • Wang, Jianxin
    Publication type:
    Article
    5

    Mutations in the unfolded protein response regulator ATF6 cause the cone dysfunction disorder achromatopsia.

    Published in:
    Nature Genetics, 2015, v. 47, n. 7, p. 757, doi. 10.1038/ng.3319
    By:
    • Kohl, Susanne;
    • Zobor, Ditta;
    • Weisschuh, Nicole;
    • Staller, Jennifer;
    • Menendez, Irene Gonzalez;
    • Beck, Susanne C;
    • Garrido, Marina Garcia;
    • Sothilingam, Vithiyanjali;
    • Seeliger, Mathias W;
    • Wissinger, Bernd;
    • Hollander, Anneke I den;
    • Lopez, Irma;
    • Ren, Huanan;
    • Koenekoop, Robert K;
    • Moore, Anthony T;
    • Webster, Andrew R;
    • Michaelides, Michel;
    • Zrenner, Eberhart;
    • Kaufman, Randal J;
    • Tsang, Stephen H
    Publication type:
    Article
    6
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    8

    Factors influencing success of clinical genome sequencing across a broad spectrum of disorders.

    Published in:
    Nature Genetics, 2015, v. 47, n. 7, p. 717, doi. 10.1038/ng.3304
    By:
    • Taylor, Jenny C;
    • Copley, Richard R;
    • Craft, Jude;
    • Howard, Malcolm;
    • Pagnamenta, Alistair;
    • Popitsch, Niko;
    • Tomlinson, Ian;
    • Bull, Katherine;
    • Cais, Ondrej;
    • Greger, Ingo H;
    • Cario, Holger;
    • Chapel, Helen;
    • Patel, Smita Y;
    • van Schouwenburg, Pauline A;
    • Cornall, Richard;
    • Dahan, Karin;
    • Dendrou, Calliope;
    • Fugger, Lars;
    • Devuyst, Olivier;
    • Fenwick, Aimée L
    Publication type:
    Article
    9
    10

    Transcriptional regulator PRDM12 is essential for human pain perception.

    Published in:
    Nature Genetics, 2015, v. 47, n. 7, p. 803, doi. 10.1038/ng.3308
    By:
    • Chen, Ya-Chun;
    • Stafford, Fay;
    • Nahorski, Michael S;
    • Shaikh, Samiha S;
    • Carvalho, Ofélia P;
    • Woods, C Geoffrey;
    • Schmid, Annina B;
    • Parman, Yesim;
    • Graul-Neumann, Luitgard;
    • Heinritz, Wolfram;
    • Passarge, Eberhard;
    • Watson, Rosemarie M;
    • McAleer, Maeve A;
    • Hertz, Jens Michael;
    • Moog, Ute;
    • Baumgartner, Manuela;
    • Valente, Enza Maria;
    • Auer-Grumbach, Michaela;
    • Schabhüttl, Maria;
    • Windhager, Reinhard
    Publication type:
    Article
    11

    Variation in NRT1.1B contributes to nitrate-use divergence between rice subspecies.

    Published in:
    Nature Genetics, 2015, v. 47, n. 7, p. 834, doi. 10.1038/ng.3337
    By:
    • Hu, Bin;
    • Tang, Jiuyou;
    • Che, Ronghui;
    • Wang, Yiqin;
    • Liang, Chengzhen;
    • Xu, Chi;
    • Chu, Chengcai;
    • Wang, Wei;
    • Li, Hua;
    • Zhang, Zhihua;
    • Wang, Hongru;
    • Liang, Yan;
    • Ou, Shujun;
    • Chai, Xuyang;
    • Li, Legong;
    • Liu, Linchuan;
    • Piao, Zhongze;
    • Deng, Qiyun;
    • Deng, Kun;
    • Zhang, Lianhe
    Publication type:
    Article
    12
    13

    Whole-genome fingerprint of the DNA methylome during human B cell differentiation.

    Published in:
    Nature Genetics, 2015, v. 47, n. 7, p. 746, doi. 10.1038/ng.3291
    By:
    • Kulis, Marta;
    • Queirós, Ana C;
    • Castellano, Giancarlo;
    • Beekman, Renée;
    • Clot, Guillem;
    • Verdaguer-Dot, Néria;
    • Russiñol, Nuria;
    • Vilarrasa-Blasi, Roser;
    • Campo, Elías;
    • Martín-Subero, José I;
    • Caron, Gersende;
    • Fest, Thierry;
    • Muench, Marcus O;
    • Fomin, Marina E;
    • Lee, Seung-Tae;
    • Wiemels, Joseph L;
    • Stunnenberg, Hendrik G;
    • Siebert, Reiner;
    • Küppers, Ralf;
    • Merkel, Angelika
    Publication type:
    Article
    14
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    Genome-wide maps of recombination and chromosome segregation in human oocytes and embryos show selection for maternal recombination rates.

    Published in:
    Nature Genetics, 2015, v. 47, n. 7, p. 727, doi. 10.1038/ng.3306
    By:
    • Ottolini, Christian S;
    • Summers, Michael C;
    • Newnham, Louise J;
    • Herbert, Alex D;
    • Hoffmann, Eva R;
    • Capalbo, Antonio;
    • Cimadomo, Danilo;
    • Rienzi, Laura;
    • Ubaldi, Filippo M;
    • Natesan, Senthilkumar A;
    • Joshi, Hrishikesh A;
    • Thornhill, Alan R;
    • Griffin, Darren K;
    • Sage, Karen;
    • Housworth, Elizabeth;
    • Handyside, Alan H
    Publication type:
    Article
    17
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    19

    Sweet size control in tomato.

    Published in:
    Nature Genetics, 2015, v. 47, n. 7, p. 698, doi. 10.1038/ng.3345
    By:
    • Fleming, Andrew
    Publication type:
    Article
    20

    A cascade of arabinosyltransferases controls shoot meristem size in tomato.

    Published in:
    Nature Genetics, 2015, v. 47, n. 7, p. 784, doi. 10.1038/ng.3309
    By:
    • Xu, Cao;
    • MacAlister, Cora A;
    • Jiang, Ke;
    • Brooks, Christopher;
    • Liberatore, Katie L;
    • Lippman, Zachary B;
    • Huang, Zejun;
    • Chu, Yi-Hsuan;
    • van der Knaap, Esther;
    • Ogawa-Ohnishi, Mari;
    • Matsubayashi, Yoshikatsu;
    • Xiong, Guangyan;
    • Pauly, Markus;
    • Van Eck, Joyce
    Publication type:
    Article
    21

    CTCF/cohesin-binding sites are frequently mutated in cancer.

    Published in:
    Nature Genetics, 2015, v. 47, n. 7, p. 818, doi. 10.1038/ng.3335
    By:
    • Katainen, Riku;
    • Pitkänen, Esa;
    • Palin, Kimmo;
    • Välimäki, Niko;
    • Gylfe, Alexandra E;
    • Ristolainen, Heikki;
    • Hänninen, Ulrika A;
    • Cajuso, Tatiana;
    • Kondelin, Johanna;
    • Tanskanen, Tomas;
    • Kaasinen, Eevi;
    • Kilpivaara, Outi;
    • Tuupanen, Sari;
    • Aaltonen, Lauri A;
    • Dave, Kashyap;
    • Enge, Martin;
    • Kivioja, Teemu;
    • Mecklin, Jukka-Pekka;
    • Järvinen, Heikki;
    • Lepistö, Anna
    Publication type:
    Article
    22
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    24

    Double trouble in human aneuploidy.

    Published in:
    Nature Genetics, 2015, v. 47, n. 7, p. 696, doi. 10.1038/ng.3344
    By:
    • Brieño-Enríquez, Miguel A;
    • Cohen, Paula E
    Publication type:
    Article
    25

    Inactivating mutations in MFSD2A, required for omega-3 fatty acid transport in brain, cause a lethal microcephaly syndrome.

    Published in:
    Nature Genetics, 2015, v. 47, n. 7, p. 809, doi. 10.1038/ng.3311
    By:
    • Guemez-Gamboa, Alicia;
    • Akizu, Naiara;
    • Rosti, Rasim Ozgur;
    • Rosti, Basak;
    • Scott, Eric;
    • Schroth, Jana;
    • Copeland, Brett;
    • Vaux, Keith K;
    • Gleeson, Joseph G;
    • Nguyen, Long N;
    • Quek, Debra Q Y;
    • Wong, Bernice H;
    • Tan, Bryan C;
    • Silver, David L;
    • Yang, Hongbo;
    • Chi, Neil C;
    • Zaki, Maha S;
    • Kara, Majdi;
    • Ben-Omran, Tawfeg;
    • Cazenave-Gassiot, Amaury
    Publication type:
    Article
    26

    Genome-wide patterns and properties of de novo mutations in humans.

    Published in:
    Nature Genetics, 2015, v. 47, n. 7, p. 822, doi. 10.1038/ng.3292
    By:
    • Francioli, Laurent C;
    • Menelaou, Androniki;
    • Renkens, Ivo;
    • Kloosterman, Wigard P;
    • Guryev, Victor;
    • Arndt, Peter F;
    • de Bakker, Paul I W;
    • Polak, Paz P;
    • Chun, Sung;
    • Sunyaev, Shamil R;
    • Koren, Amnon;
    • van Duijn, Cornelia M;
    • Swertz, Morris;
    • Wijmenga, Cisca;
    • van Ommen, Gertjan;
    • Slagboom, P Eline;
    • Boomsma, Dorret I;
    • Ye, Kai
    Publication type:
    Article