Works matching IS 10614036 AND DT 2014 AND VI 46 AND IP 8


Results: 30
    1
    2

    Activating germline mutations in STAT3 cause early-onset multi-organ autoimmune disease.

    Published in:
    Nature Genetics, 2014, v. 46, n. 8, p. 812, doi. 10.1038/ng.3040
    By:
    • Flanagan, Sarah E;
    • Haapaniemi, Emma;
    • Russell, Mark A;
    • Caswell, Richard;
    • Allen, Hana Lango;
    • De Franco, Elisa;
    • McDonald, Timothy J;
    • Rajala, Hanna;
    • Ramelius, Anita;
    • Barton, John;
    • Heiskanen, Kaarina;
    • Heiskanen-Kosma, Tarja;
    • Kajosaari, Merja;
    • Murphy, Nuala P;
    • Milenkovic, Tatjana;
    • Seppänen, Mikko;
    • Lernmark, Åke;
    • Mustjoki, Satu;
    • Otonkoski, Timo;
    • Kere, Juha
    Publication type:
    Article
    3
    4
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    6

    Exome sequencing identifies highly recurrent MED12 somatic mutations in breast fibroadenoma.

    Published in:
    Nature Genetics, 2014, v. 46, n. 8, p. 877, doi. 10.1038/ng.3037
    By:
    • Lim, Weng Khong;
    • Ong, Choon Kiat;
    • Tan, Jing;
    • Thike, Aye Aye;
    • Ng, Cedric Chuan Young;
    • Rajasegaran, Vikneswari;
    • Myint, Swe Swe;
    • Nagarajan, Sanjanaa;
    • Nasir, Nur Diyana Md;
    • McPherson, John R;
    • Cutcutache, Ioana;
    • Poore, Gregory;
    • Tay, Su Ting;
    • Ooi, Wei Siong;
    • Tan, Veronique Kiak Mien;
    • Hartman, Mikael;
    • Ong, Kong Wee;
    • Tan, Benita K T;
    • Rozen, Steven G;
    • Tan, Puay Hoon
    Publication type:
    Article
    7
    8
    9
    10

    Mutations in ZBTB20 cause Primrose syndrome.

    Published in:
    Nature Genetics, 2014, v. 46, n. 8, p. 815, doi. 10.1038/ng.3035
    By:
    • Cordeddu, Viviana;
    • Redeker, Bert;
    • Stellacci, Emilia;
    • Jongejan, Aldo;
    • Fragale, Alessandra;
    • Bradley, Ted E J;
    • Anselmi, Massimiliano;
    • Ciolfi, Andrea;
    • Cecchetti, Serena;
    • Muto, Valentina;
    • Bernardini, Laura;
    • Azage, Meron;
    • Carvalho, Daniel R;
    • Espay, Alberto J;
    • Male, Alison;
    • Molin, Anna-Maja;
    • Posmyk, Renata;
    • Battisti, Carla;
    • Casertano, Alberto;
    • Melis, Daniela
    Publication type:
    Article
    11
    12

    Common variants in the HLA-DQ region confer susceptibility to idiopathic achalasia.

    Published in:
    Nature Genetics, 2014, v. 46, n. 8, p. 901, doi. 10.1038/ng.3029
    By:
    • Gockel, Ines;
    • Becker, Jessica;
    • Wouters, Mira M;
    • Niebisch, Stefan;
    • Gockel, Henning R;
    • Hess, Timo;
    • Ramonet, David;
    • Zimmermann, Julian;
    • Vigo, Ana González;
    • Trynka, Gosia;
    • de León, Antonio Ruiz;
    • de la Serna, Julio Pérez;
    • Urcelay, Elena;
    • Kumar, Vinod;
    • Franke, Lude;
    • Westra, Harm-Jan;
    • Drescher, Daniel;
    • Kneist, Werner;
    • Marquardt, Jens U;
    • Galle, Peter R
    Publication type:
    Article
    13
    14

    Global epistasis.

    Published in:
    Nature Genetics, 2014, v. 46, n. 8, p. 811, doi. 10.1038/ng.3053
    By:
    • Bahcall, Orli
    Publication type:
    Article
    15

    A three-stage genome-wide association study identifies a susceptibility locus for late radiotherapy toxicity at 2q24.1.

    Published in:
    Nature Genetics, 2014, v. 46, n. 8, p. 891, doi. 10.1038/ng.3020
    By:
    • Fachal, Laura;
    • Gómez-Caamaño, Antonio;
    • Barnett, Gillian C;
    • Peleteiro, Paula;
    • Carballo, Ana M;
    • Calvo-Crespo, Patricia;
    • Kerns, Sarah L;
    • Sánchez-García, Manuel;
    • Lobato-Busto, Ramón;
    • Dorling, Leila;
    • Elliott, Rebecca M;
    • Dearnaley, David P;
    • Sydes, Matthew R;
    • Hall, Emma;
    • Burnet, Neil G;
    • Carracedo, Ángel;
    • Rosenstein, Barry S;
    • West, Catharine M L;
    • Dunning, Alison M;
    • Vega, Ana
    Publication type:
    Article
    16

    Whole-genome sequencing of 234 bulls facilitates mapping of monogenic and complex traits in cattle.

    Published in:
    Nature Genetics, 2014, v. 46, n. 8, p. 858, doi. 10.1038/ng.3034
    By:
    • Daetwyler, Hans D;
    • Capitan, Aurélien;
    • Pausch, Hubert;
    • Stothard, Paul;
    • van Binsbergen, Rianne;
    • Brøndum, Rasmus F;
    • Liao, Xiaoping;
    • Djari, Anis;
    • Rodriguez, Sabrina C;
    • Grohs, Cécile;
    • Esquerré, Diane;
    • Bouchez, Olivier;
    • Rossignol, Marie-Noëlle;
    • Klopp, Christophe;
    • Rocha, Dominique;
    • Fritz, Sébastien;
    • Eggen, André;
    • Bowman, Phil J;
    • Coote, David;
    • Chamberlain, Amanda J
    Publication type:
    Article
    17

    Genome-wide association analysis in East Asians identifies breast cancer susceptibility loci at 1q32.1, 5q14.3 and 15q26.1.

    Published in:
    Nature Genetics, 2014, v. 46, n. 8, p. 886, doi. 10.1038/ng.3041
    By:
    • Cai, Qiuyin;
    • Zhang, Ben;
    • Sung, Hyuna;
    • Low, Siew-Kee;
    • Kweon, Sun-Seog;
    • Lu, Wei;
    • Shi, Jiajun;
    • Long, Jirong;
    • Wen, Wanqing;
    • Choi, Ji-Yeob;
    • Noh, Dong-Young;
    • Shen, Chen-Yang;
    • Matsuo, Keitaro;
    • Teo, Soo-Hwang;
    • Kim, Mi Kyung;
    • Khoo, Ui Soon;
    • Iwasaki, Motoki;
    • Hartman, Mikael;
    • Takahashi, Atsushi;
    • Ashikawa, Kyota
    Publication type:
    Article
    18

    A specific missense mutation in GTF2I occurs at high frequency in thymic epithelial tumors.

    Published in:
    Nature Genetics, 2014, v. 46, n. 8, p. 844, doi. 10.1038/ng.3016
    By:
    • Petrini, Iacopo;
    • Meltzer, Paul S;
    • Kim, In-Kyu;
    • Lucchi, Marco;
    • Park, Kang-Seo;
    • Fontanini, Gabriella;
    • Gao, James;
    • Zucali, Paolo A;
    • Calabrese, Fiorella;
    • Favaretto, Adolfo;
    • Rea, Federico;
    • Rodriguez-Canales, Jaime;
    • Walker, Robert L;
    • Pineda, Marbin;
    • Zhu, Yuelin J;
    • Lau, Christopher;
    • Killian, Keith J;
    • Bilke, Sven;
    • Voeller, Donna;
    • Dakshanamurthy, Sivanesan
    Publication type:
    Article
    19
    20

    Most genetic risk for autism resides with common variation.

    Published in:
    Nature Genetics, 2014, v. 46, n. 8, p. 881, doi. 10.1038/ng.3039
    By:
    • Gaugler, Trent;
    • Klei, Lambertus;
    • Sanders, Stephan J;
    • Bodea, Corneliu A;
    • Goldberg, Arthur P;
    • Lee, Ann B;
    • Mahajan, Milind;
    • Manaa, Dina;
    • Pawitan, Yudi;
    • Reichert, Jennifer;
    • Ripke, Stephan;
    • Sandin, Sven;
    • Sklar, Pamela;
    • Svantesson, Oscar;
    • Reichenberg, Abraham;
    • Hultman, Christina M;
    • Devlin, Bernie;
    • Roeder, Kathryn;
    • Buxbaum, Joseph D
    Publication type:
    Article
    21

    Genome-wide association analysis of eosinophilic esophagitis provides insight into the tissue specificity of this allergic disease.

    Published in:
    Nature Genetics, 2014, v. 46, n. 8, p. 895, doi. 10.1038/ng.3033
    By:
    • Kottyan, Leah C;
    • Davis, Benjamin P;
    • Sherrill, Joseph D;
    • Liu, Kan;
    • Rochman, Mark;
    • Kaufman, Kenneth;
    • Weirauch, Matthew T;
    • Vaughn, Samuel;
    • Lazaro, Sara;
    • Rupert, Andrew M;
    • Kohram, Mojtaba;
    • Stucke, Emily M;
    • Kemme, Katherine A;
    • Magnusen, Albert;
    • He, Hua;
    • Dexheimer, Phillip;
    • Chehade, Mirna;
    • Wood, Robert A;
    • Pesek, Robbie D;
    • Vickery, Brian P
    Publication type:
    Article
    22
    23

    Ordering of mutations in preinvasive disease stages of esophageal carcinogenesis.

    Published in:
    Nature Genetics, 2014, v. 46, n. 8, p. 837, doi. 10.1038/ng.3013
    By:
    • Weaver, Jamie M J;
    • Ross-Innes, Caryn S;
    • Shannon, Nicholas;
    • Lynch, Andy G;
    • Forshew, Tim;
    • Barbera, Mariagnese;
    • Murtaza, Muhammed;
    • Ong, Chin-Ann J;
    • Lao-Sirieix, Pierre;
    • Dunning, Mark J;
    • Smith, Laura;
    • Smith, Mike L;
    • Anderson, Charlotte L;
    • Carvalho, Benilton;
    • O'Donovan, Maria;
    • Underwood, Timothy J;
    • May, Andrew P;
    • Grehan, Nicola;
    • Hardwick, Richard;
    • Davies, Jim
    Publication type:
    Article
    24
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    26

    The oral-facial-digital syndrome gene C2CD3 encodes a positive regulator of centriole elongation.

    Published in:
    Nature Genetics, 2014, v. 46, n. 8, p. 905, doi. 10.1038/ng.3031
    By:
    • Thauvin-Robinet, Christel;
    • Lee, Jaclyn S;
    • Lopez, Estelle;
    • Herranz-Pérez, Vicente;
    • Shida, Toshinobu;
    • Franco, Brunella;
    • Jego, Laurence;
    • Ye, Fan;
    • Pasquier, Laurent;
    • Loget, Philippe;
    • Gigot, Nadège;
    • Aral, Bernard;
    • Lopes, Carla A M;
    • St-Onge, Judith;
    • Bruel, Ange-Line;
    • Thevenon, Julien;
    • González-Granero, Susana;
    • Alby, Caroline;
    • Munnich, Arnold;
    • Vekemans, Michel
    Publication type:
    Article
    27

    Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization.

    Published in:
    Nature Genetics, 2014, v. 46, n. 8, p. 826, doi. 10.1038/ng.3014
    By:
    • Arking, Dan E;
    • Pulit, Sara L;
    • Crotti, Lia;
    • van der Harst, Pim;
    • Munroe, Patricia B;
    • Koopmann, Tamara T;
    • Sotoodehnia, Nona;
    • Rossin, Elizabeth J;
    • Morley, Michael;
    • Wang, Xinchen;
    • Johnson, Andrew D;
    • Lundby, Alicia;
    • Gudbjartsson, Daníel F;
    • Noseworthy, Peter A;
    • Eijgelsheim, Mark;
    • Bradford, Yuki;
    • Tarasov, Kirill V;
    • Dörr, Marcus;
    • Müller-Nurasyid, Martina;
    • Lahtinen, Annukka M
    Publication type:
    Article
    28

    The genomic landscape of nasopharyngeal carcinoma.

    Published in:
    Nature Genetics, 2014, v. 46, n. 8, p. 866, doi. 10.1038/ng.3006
    By:
    • Lin, De-Chen;
    • Meng, Xuan;
    • Hazawa, Masaharu;
    • Nagata, Yasunobu;
    • Varela, Ana Maria;
    • Xu, Liang;
    • Sato, Yusuke;
    • Liu, Li-Zhen;
    • Ding, Ling-Wen;
    • Sharma, Arjun;
    • Goh, Boon Cher;
    • Lee, Soo Chin;
    • Petersson, Bengt Fredrik;
    • Yu, Feng Gang;
    • Macary, Paul;
    • Oo, Min Zin;
    • Ha, Chan Soh;
    • Yang, Henry;
    • Ogawa, Seishi;
    • Loh, Kwok Seng
    Publication type:
    Article
    29
    30

    Regulatory codewords.

    Published in:
    Nature Genetics, 2014, v. 46, n. 8, p. 801, doi. 10.1038/ng.3059
    Publication type:
    Article