Works matching IS 10614036 AND DT 2015 AND VI 47 AND IP 5

Results: 27
    1

    Exome sequencing links mutations in PARN and RTEL1 with familial pulmonary fibrosis and telomere shortening.

    Published in:
    Nature Genetics, 2015, v. 47, n. 5, p. 512, doi. 10.1038/ng.3278
    By:
    • Stuart, Bridget D;
    • Garcia, Christine Kim;
    • Choi, Jungmin;
    • Zaidi, Samir;
    • Ji, Weizhen;
    • Xing, Chao;
    • Choi, Mihwa;
    • Holohan, Brody;
    • Shay, Jerry W;
    • Chen, Rui;
    • Dharwadkar, Pooja;
    • Torres, Fernando;
    • Girod, Carlos E;
    • Weissler, Jonathan;
    • Fitzgerald, John;
    • Kershaw, Corey;
    • Klesney-Tait, Julia;
    • Mageto, Yolanda;
    • Bilguvar, Kaya;
    • Mane, Shrikant
    Publication type:
    Article
    2

    Identification of a large set of rare complete human knockouts.

    Published in:
    Nature Genetics, 2015, v. 47, n. 5, p. 448, doi. 10.1038/ng.3243
    By:
    • Sulem, Patrick;
    • Oddson, Asmundur;
    • Stefansson, Hreinn;
    • Gudjonsson, Sigurjon A;
    • Zink, Florian;
    • Hjartarson, Eirikur;
    • Sigurdsson, Gunnar Th;
    • Jonasdottir, Adalbjorg;
    • Jonasdottir, Aslaug;
    • Sigurdsson, Asgeir;
    • Magnusson, Olafur Th;
    • Masson, Gisli;
    • Helgason, Hannes;
    • Kong, Augustine;
    • Gudbjartsson, Daniel F;
    • Helgason, Agnar;
    • Holm, Hilma;
    • Thorsteinsdottir, Unnur;
    • Stefansson, Kari
    Publication type:
    Article
    3

    Susceptibility to tuberculosis is associated with variants in the ASAP1 gene encoding a regulator of dendritic cell migration.

    Published in:
    Nature Genetics, 2015, v. 47, n. 5, p. 523, doi. 10.1038/ng.3248
    By:
    • Curtis, James;
    • Zenner, Helen L;
    • Cuchet-Lourenço, Delphine;
    • Wu, Changxin;
    • Maes, Mailis;
    • Alisaac, Ali;
    • Stebbings, Emma;
    • Kopanitsa, Liliya;
    • Nejentsev, Sergey;
    • Luo, Yang;
    • Liu, Jimmy Z;
    • Barrett, Jeffrey C;
    • Lo, Kitty;
    • Plagnol, Vincent;
    • Ignatyeva, Olga;
    • Balabanova, Yanina;
    • Nikolayevskyy, Vladyslav;
    • Drobniewski, Francis;
    • Baessmann, Ingelore;
    • Thye, Thorsten
    Publication type:
    Article
    4

    A recombined allele of the lipase gene CEL and its pseudogene CELP confers susceptibility to chronic pancreatitis.

    Published in:
    Nature Genetics, 2015, v. 47, n. 5, p. 518, doi. 10.1038/ng.3249
    By:
    • Fjeld, Karianne;
    • Johansson, Bente B;
    • Ringdal, Monika;
    • Torsvik, Janniche;
    • Johansson, Stefan;
    • Bugert, Peter;
    • Cnop, Miriam;
    • Grützmann, Robert;
    • Schulz, Hans-Ulrich;
    • Sztromwasser, Paweł;
    • Scholz, Markus;
    • Tjora, Erling;
    • Njølstad, Pål R;
    • Férec, Claude;
    • Molven, Anders;
    • Weiss, Frank Ulrich;
    • Mayerle, Julia;
    • Sendler, Matthias;
    • Simon, Peter;
    • Lerch, Markus M
    Publication type:
    Article
    5
    6

    Cooperative loss of RAS feedback regulation drives myeloid leukemogenesis.

    Published in:
    Nature Genetics, 2015, v. 47, n. 5, p. 539, doi. 10.1038/ng.3251
    By:
    • Zhao, Zhen;
    • Rillahan, Cory D;
    • Kitzing, Thomas;
    • Lowe, Scott W;
    • Chen, Chi-Chao;
    • Shen, Ronglai;
    • McNerney, Megan E;
    • Diaz-Flores, Ernesto;
    • Shannon, Kevin;
    • Zuber, Johannes;
    • Le Beau, Michelle M;
    • Spector, Mona S;
    • Kogan, Scott C
    Publication type:
    Article
    7
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    10

    Exome sequencing of hepatocellular carcinomas identifies new mutational signatures and potential therapeutic targets.

    Published in:
    Nature Genetics, 2015, v. 47, n. 5, p. 505, doi. 10.1038/ng.3252
    By:
    • Schulze, Kornelius;
    • Imbeaud, Sandrine;
    • Letouzé, Eric;
    • Rebouissou, Sandra;
    • Couchy, Gabrielle;
    • Meiller, Clément;
    • Shinde, Jayendra;
    • Soysouvanh, Frederic;
    • Calatayud, Anna-Line;
    • Pelletier, Laura;
    • Calvo, Fabien;
    • Nault, Jean-Charles;
    • Bioulac-Sage, Paulette;
    • Stratton, Michael R;
    • Llovet, Josep M;
    • Zucman-Rossi, Jessica;
    • Alexandrov, Ludmil B;
    • Calderaro, Julien;
    • Pinyol, Roser;
    • Balabaud, Charles
    Publication type:
    Article
    11
    12

    Letters from Iceland.

    Published in:
    Nature Genetics, 2015, v. 47, n. 5, p. 425, doi. 10.1038/ng.3277
    Publication type:
    Article
    13

    Targeted disruption of DNMT1, DNMT3A and DNMT3B in human embryonic stem cells.

    Published in:
    Nature Genetics, 2015, v. 47, n. 5, p. 469, doi. 10.1038/ng.3258
    By:
    • Liao, Jing;
    • Karnik, Rahul;
    • Ziller, Michael J;
    • Clement, Kendell;
    • Tsankov, Alexander M;
    • Akopian, Veronika;
    • Gifford, Casey A;
    • Donaghey, Julie;
    • Galonska, Christina;
    • Pop, Ramona;
    • Mallard, William;
    • Rinn, John L;
    • Meissner, Alexander;
    • Gu, Hongcang;
    • Gnirke, Andreas;
    • Reyon, Deepak;
    • Tsai, Shengdar Q;
    • Joung, J Keith
    Publication type:
    Article
    14

    Loss-of-function variants in ABCA7 confer risk of Alzheimer's disease.

    Published in:
    Nature Genetics, 2015, v. 47, n. 5, p. 445, doi. 10.1038/ng.3246
    By:
    • Steinberg, Stacy;
    • Stefansson, Hreinn;
    • Jonsson, Thorlakur;
    • Johannsdottir, Hrefna;
    • Ingason, Andres;
    • Helgason, Hannes;
    • Sulem, Patrick;
    • Magnusson, Olafur Th;
    • Gudjonsson, Sigurjon A;
    • Unnsteinsdottir, Unnur;
    • Kong, Augustine;
    • Westlye, Lars T;
    • Selbæk, Geir;
    • Giegling, Ina;
    • Rujescu, Dan;
    • Hampel, Harald;
    • Hiltunen, Mikko;
    • Andreassen, Ole A;
    • Jonsson, Palmi V;
    • Bjornsson, Sigurbjorn
    Publication type:
    Article
    15

    Dementia in a dish.

    Published in:
    Nature Genetics, 2015, v. 47, n. 5, p. 429, doi. 10.1038/ng.3294
    By:
    • LaFlamme, Brooke
    Publication type:
    Article
    16

    Large-scale whole-genome sequencing of the Icelandic population.

    Published in:
    Nature Genetics, 2015, v. 47, n. 5, p. 435, doi. 10.1038/ng.3247
    By:
    • Gudbjartsson, Daniel F;
    • Helgason, Hannes;
    • Gudbjartsson, Hakon;
    • Kong, Augustine;
    • Bjornsson, Einar S;
    • Olafsson, Sigurdur;
    • Thorarinsdottir, Hildur;
    • Theodors, Asgeir;
    • Steingrimsdottir, Thora;
    • Gudmundsdottir, Thora S;
    • Jonasson, Jon G;
    • Jonsson, Jon J;
    • Thorarensen, Olafur;
    • Ludvigsson, Petur;
    • Eyjolfsson, Gudmundur I;
    • Sigurdardottir, Olof;
    • Olafsson, Isleifur;
    • Gudjonsson, Sigurjon A;
    • Zink, Florian;
    • Oddson, Asmundur
    Publication type:
    Article
    17
    18

    The Y-chromosome point mutation rate in humans.

    Published in:
    Nature Genetics, 2015, v. 47, n. 5, p. 453, doi. 10.1038/ng.3171
    By:
    • Helgason, Agnar;
    • Einarsson, Axel W;
    • Jagadeesan, Anuradha;
    • Ebenesersdóttir, S Sunna;
    • Guðmundsdóttir, Valdís B;
    • Sigurðsson, Ásgeir;
    • Gunnarsdóttir, Ellen D;
    • Kong, Augustine;
    • Stefánsson, Kári
    Publication type:
    Article
    19

    Germline mutations in ETV6 are associated with thrombocytopenia, red cell macrocytosis and predisposition to lymphoblastic leukemia.

    Published in:
    Nature Genetics, 2015, v. 47, n. 5, p. 535, doi. 10.1038/ng.3253
    By:
    • Noetzli, Leila;
    • Di Paola, Jorge;
    • Landolt-Marticorena, Carolina;
    • Heller, Paula;
    • Gutierrez-Hartmann, Arthur;
    • Xiayuan, Liang;
    • Rowley, Jesse W;
    • Weyrich, Andrew S;
    • Kahr, Walter H A;
    • Lo, Richard W;
    • Lee-Sherick, Alisa B;
    • Hunger, Stephen;
    • Porter, Christopher C;
    • Callaghan, Michael;
    • Rajpurkar, Madhvi;
    • Noris, Patrizia;
    • Balduini, Carlo L;
    • Pecci, Alessandro;
    • Savoia, Anna;
    • Gnan, Chiara
    Publication type:
    Article
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    Keeping methylation at bay.

    Published in:
    Nature Genetics, 2015, v. 47, n. 5, p. 427, doi. 10.1038/ng.3290
    By:
    • Kelsey, Gavin
    Publication type:
    Article
    23

    Mutational landscape and clonal architecture in grade II and III gliomas.

    Published in:
    Nature Genetics, 2015, v. 47, n. 5, p. 458, doi. 10.1038/ng.3273
    By:
    • Suzuki, Hiromichi;
    • Aoki, Kosuke;
    • Abe, Tatsuya;
    • Muragaki, Yoshihiro;
    • Watanabe, Reiko;
    • Ito, Ichiro;
    • Chiba, Kenichi;
    • Shiraishi, Yuichi;
    • Niida, Atsushi;
    • Tanaka, Hiroko;
    • Miyano, Satoru;
    • Sato, Yusuke;
    • Shiozawa, Yusuke;
    • Yoshizato, Tetsuichi;
    • Kataoka, Keisuke;
    • Yoshida, Kenichi;
    • Nagata, Yasunobu;
    • Sato-Otsubo, Aiko;
    • Sanada, Masashi;
    • Ogawa, Seishi
    Publication type:
    Article
    24
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    Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction.

    Published in:
    Nature Genetics, 2015, v. 47, n. 5, p. 528, doi. 10.1038/ng.3256
    By:
    • Akizu, Naiara;
    • Ozgul, R Koksal;
    • Sagıroglu, Mahmut Samil;
    • Azam, Matloob;
    • Selim, Laila;
    • Mahmoud, Iman G;
    • Abdel-Hadi, Sawsan;
    • Badawy, Amera El;
    • Sadek, Abdelrahim A;
    • Mojahedi, Faezeh;
    • Kayserili, Hulya;
    • Masri, Amira;
    • Bastaki, Laila;
    • Müller, Ulrich;
    • Cantagrel, Vincent;
    • Desguerre, Isabelle;
    • Casanova, Jean-Laurent;
    • Dursun, Ali;
    • Gunel, Murat;
    • Gabriel, Stacey B
    Publication type:
    Article
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