Works matching IS 10614036 AND DT 2014 AND VI 46 AND IP 5

Results: 27
    1

    Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling.

    Published in:
    Nature Genetics, 2014, v. 46, n. 5, p. 503, doi. 10.1038/ng.2933
    By:
    • Rice, Gillian I;
    • del Toro Duany, Yoandris;
    • Jenkinson, Emma M;
    • Forte, Gabriella M A;
    • Anderson, Beverley H;
    • Ariaudo, Giada;
    • Bader-Meunier, Brigitte;
    • Baildam, Eileen M;
    • Battini, Roberta;
    • Beresford, Michael W;
    • Casarano, Manuela;
    • Chouchane, Mondher;
    • Cimaz, Rolando;
    • Collins, Abigail E;
    • Cordeiro, Nuno J V;
    • Dale, Russell C;
    • Davidson, Joyce E;
    • De Waele, Liesbeth;
    • Desguerre, Isabelle;
    • Faivre, Laurence
    Publication type:
    Article
    2
    3

    MDA5 and autoimmune disease.

    Published in:
    Nature Genetics, 2014, v. 46, n. 5, p. 418, doi. 10.1038/ng.2959
    By:
    • Miner, Jonathan J;
    • Diamond, Michael S
    Publication type:
    Article
    4

    Heritability and genomics of gene expression in peripheral blood.

    Published in:
    Nature Genetics, 2014, v. 46, n. 5, p. 430, doi. 10.1038/ng.2951
    By:
    • Wright, Fred A;
    • Sullivan, Patrick F;
    • Brooks, Andrew I;
    • Zou, Fei;
    • Sun, Wei;
    • Xia, Kai;
    • Madar, Vered;
    • Jansen, Rick;
    • Chung, Wonil;
    • Zhou, Yi-Hui;
    • Abdellaoui, Abdel;
    • Batista, Sandra;
    • Butler, Casey;
    • Chen, Guanhua;
    • Chen, Ting-Huei;
    • D'Ambrosio, David;
    • Gallins, Paul;
    • Ha, Min Jin;
    • Hottenga, Jouke Jan;
    • Huang, Shunping
    Publication type:
    Article
    5
    6

    Rare missense variants in POT1 predispose to familial cutaneous malignant melanoma.

    Published in:
    Nature Genetics, 2014, v. 46, n. 5, p. 482, doi. 10.1038/ng.2941
    By:
    • Shi, Jianxin;
    • Yang, Xiaohong R;
    • Ballew, Bari;
    • Rotunno, Melissa;
    • Calista, Donato;
    • Fargnoli, Maria Concetta;
    • Ghiorzo, Paola;
    • Bressac-de Paillerets, Brigitte;
    • Nagore, Eduardo;
    • Avril, Marie Francoise;
    • Caporaso, Neil E;
    • McMaster, Mary L;
    • Cullen, Michael;
    • Wang, Zhaoming;
    • Zhang, Xijun;
    • Bruno, William;
    • Pastorino, Lorenza;
    • Queirolo, Paola;
    • Banuls-Roca, Jose;
    • Garcia-Casado, Zaida
    Publication type:
    Article
    7

    Severe osteoarthritis of the hand associates with common variants within the ALDH1A2 gene and with rare variants at 1p31.

    Published in:
    Nature Genetics, 2014, v. 46, n. 5, p. 498, doi. 10.1038/ng.2957
    By:
    • Styrkarsdottir, Unnur;
    • Thorleifsson, Gudmar;
    • Helgadottir, Hafdis T;
    • Bomer, Nils;
    • Metrustry, Sarah;
    • Bierma-Zeinstra, S;
    • Strijbosch, Annelieke M;
    • Evangelou, Evangelos;
    • Hart, Deborah;
    • Beekman, Marian;
    • Jonasdottir, Aslaug;
    • Sigurdsson, Asgeir;
    • Eiriksson, Finnur F;
    • Thorsteinsdottir, Margret;
    • Frigge, Michael L;
    • Kong, Augustine;
    • Gudjonsson, Sigurjon A;
    • Magnusson, Olafur T;
    • Masson, Gisli;
    • Hofman, Albert
    Publication type:
    Article
    8
    9

    Small cell carcinoma of the ovary, hypercalcemic type, displays frequent inactivating germline and somatic mutations in SMARCA4.

    Published in:
    Nature Genetics, 2014, v. 46, n. 5, p. 427, doi. 10.1038/ng.2928
    By:
    • Ramos, Pilar;
    • Karnezis, Anthony N;
    • Craig, David W;
    • Sekulic, Aleksandar;
    • Russell, Megan L;
    • Hendricks, William P D;
    • Corneveaux, Jason J;
    • Barrett, Michael T;
    • Shumansky, Karey;
    • Yang, Yidong;
    • Shah, Sohrab P;
    • Prentice, Leah M;
    • Marra, Marco A;
    • Kiefer, Jeffrey;
    • Zismann, Victoria L;
    • McEachron, Troy A;
    • Salhia, Bodour;
    • Prat, Jaime;
    • D'Angelo, Emanuela;
    • Clarke, Blaise A
    Publication type:
    Article
    10

    Recurrent activating ACVR1 mutations in diffuse intrinsic pontine glioma.

    Published in:
    Nature Genetics, 2014, v. 46, n. 5, p. 457, doi. 10.1038/ng.2925
    By:
    • Taylor, Kathryn R;
    • Mackay, Alan;
    • Truffaux, Nathalène;
    • Butterfield, Yaron S;
    • Morozova, Olena;
    • Philippe, Cathy;
    • Castel, David;
    • Grasso, Catherine S;
    • Vinci, Maria;
    • Carvalho, Diana;
    • Carcaboso, Angel M;
    • de Torres, Carmen;
    • Cruz, Ofelia;
    • Mora, Jaume;
    • Entz-Werle, Natacha;
    • Ingram, Wendy J;
    • Monje, Michelle;
    • Hargrave, Darren;
    • Bullock, Alex N;
    • Puget, Stéphanie
    Publication type:
    Article
    11

    MRSA toxicity and virulence.

    Published in:
    Nature Genetics, 2014, v. 46, n. 5, p. 423, doi. 10.1038/ng.2978
    By:
    • Bahcall, Orli
    Publication type:
    Article
    12

    Association of a germline copy number polymorphism of APOBEC3A and APOBEC3B with burden of putative APOBEC-dependent mutations in breast cancer.

    Published in:
    Nature Genetics, 2014, v. 46, n. 5, p. 487, doi. 10.1038/ng.2955
    By:
    • Nik-Zainal, Serena;
    • Wedge, David C;
    • Alexandrov, Ludmil B;
    • Petljak, Mia;
    • Butler, Adam P;
    • Bolli, Niccolo;
    • Davies, Helen R;
    • Knappskog, Stian;
    • Martin, Sancha;
    • Papaemmanuil, Elli;
    • Ramakrishna, Manasa;
    • Shlien, Adam;
    • Simonic, Ingrid;
    • Xue, Yali;
    • Tyler-Smith, Chris;
    • Campbell, Peter J;
    • Stratton, Michael R
    Publication type:
    Article
    13

    Recurrent somatic mutations in ACVR1 in pediatric midline high-grade astrocytoma.

    Published in:
    Nature Genetics, 2014, v. 46, n. 5, p. 462, doi. 10.1038/ng.2950
    By:
    • Fontebasso, Adam M;
    • Papillon-Cavanagh, Simon;
    • Schwartzentruber, Jeremy;
    • Nikbakht, Hamid;
    • Gerges, Noha;
    • Fiset, Pierre-Olivier;
    • Bechet, Denise;
    • Faury, Damien;
    • De Jay, Nicolas;
    • Ramkissoon, Lori A;
    • Corcoran, Aoife;
    • Jones, David T W;
    • Sturm, Dominik;
    • Johann, Pascal;
    • Tomita, Tadanori;
    • Goldman, Stewart;
    • Nagib, Mahmoud;
    • Bendel, Anne;
    • Goumnerova, Liliana;
    • Bowers, Daniel C
    Publication type:
    Article
    14
    15
    16

    Recurrent SMARCA4 mutations in small cell carcinoma of the ovary.

    Published in:
    Nature Genetics, 2014, v. 46, n. 5, p. 424, doi. 10.1038/ng.2922
    By:
    • Jelinic, Petar;
    • Mueller, Jennifer J;
    • Olvera, Narciso;
    • Dao, Fanny;
    • Scott, Sasinya N;
    • Shah, Ronak;
    • Gao, JianJiong;
    • Schultz, Nikolaus;
    • Gonen, Mithat;
    • Soslow, Robert A;
    • Berger, Michael F;
    • Levine, Douglas A
    Publication type:
    Article
    17

    Germline and somatic SMARCA4 mutations characterize small cell carcinoma of the ovary, hypercalcemic type.

    Published in:
    Nature Genetics, 2014, v. 46, n. 5, p. 438, doi. 10.1038/ng.2931
    By:
    • Witkowski, Leora;
    • Carrot-Zhang, Jian;
    • Albrecht, Steffen;
    • Fahiminiya, Somayyeh;
    • Hamel, Nancy;
    • Tomiak, Eva;
    • Grynspan, David;
    • Saloustros, Emmanouil;
    • Nadaf, Javad;
    • Rivera, Barbara;
    • Gilpin, Catherine;
    • Castellsagué, Ester;
    • Silva-Smith, Rachel;
    • Plourde, François;
    • Wu, Mona;
    • Saskin, Avi;
    • Arseneault, Madeleine;
    • Karabakhtsian, Rouzan G;
    • Reilly, Elizabeth A;
    • Ueland, Frederick R
    Publication type:
    Article
    18

    TDP2 protects transcription from abortive topoisomerase activity and is required for normal neural function.

    Published in:
    Nature Genetics, 2014, v. 46, n. 5, p. 516, doi. 10.1038/ng.2929
    By:
    • Gómez-Herreros, Fernando;
    • Schuurs-Hoeijmakers, Janneke H M;
    • McCormack, Mark;
    • Greally, Marie T;
    • Rulten, Stuart;
    • Romero-Granados, Rocío;
    • Counihan, Timothy J;
    • Chaila, Elijah;
    • Conroy, Judith;
    • Ennis, Sean;
    • Delanty, Norman;
    • Cortés-Ledesma, Felipe;
    • de Brouwer, Arjan P M;
    • Cavalleri, Gianpiero L;
    • El-Khamisy, Sherif F;
    • de Vries, Bert B A;
    • Caldecott, Keith W
    Publication type:
    Article
    19

    Low copy number of the salivary amylase gene predisposes to obesity.

    Published in:
    Nature Genetics, 2014, v. 46, n. 5, p. 492, doi. 10.1038/ng.2939
    By:
    • Falchi, Mario;
    • El-Sayed Moustafa, Julia Sarah;
    • Takousis, Petros;
    • Pesce, Francesco;
    • Bonnefond, Amélie;
    • Andersson-Assarsson, Johanna C;
    • Sudmant, Peter H;
    • Dorajoo, Rajkumar;
    • Al-Shafai, Mashael Nedham;
    • Bottolo, Leonardo;
    • Ozdemir, Erdal;
    • So, Hon-Cheong;
    • Davies, Robert W;
    • Patrice, Alexandre;
    • Dent, Robert;
    • Mangino, Massimo;
    • Hysi, Pirro G;
    • Dechaume, Aurélie;
    • Huyvaert, Marlène;
    • Skinner, Jane
    Publication type:
    Article
    20

    POT1 loss-of-function variants predispose to familial melanoma.

    Published in:
    Nature Genetics, 2014, v. 46, n. 5, p. 478, doi. 10.1038/ng.2947
    By:
    • Robles-Espinoza, Carla Daniela;
    • Harland, Mark;
    • Ramsay, Andrew J;
    • Aoude, Lauren G;
    • Quesada, Víctor;
    • Ding, Zhihao;
    • Pooley, Karen A;
    • Pritchard, Antonia L;
    • Tiffen, Jessamy C;
    • Petljak, Mia;
    • Palmer, Jane M;
    • Symmons, Judith;
    • Johansson, Peter;
    • Stark, Mitchell S;
    • Gartside, Michael G;
    • Snowden, Helen;
    • Montgomery, Grant W;
    • Martin, Nicholas G;
    • Liu, Jimmy Z;
    • Choi, Jiyeon
    Publication type:
    Article
    21

    Organizing the body axis.

    Published in:
    Nature Genetics, 2014, v. 46, n. 5, p. 423, doi. 10.1038/ng.2979
    By:
    • Vogan, Kyle
    Publication type:
    Article
    22

    TDP2 keeps the brain healthy.

    Published in:
    Nature Genetics, 2014, v. 46, n. 5, p. 419, doi. 10.1038/ng.2967
    By:
    • McKinnon, Peter J
    Publication type:
    Article
    23
    24

    Genomic and molecular characterization of esophageal squamous cell carcinoma.

    Published in:
    Nature Genetics, 2014, v. 46, n. 5, p. 467, doi. 10.1038/ng.2935
    By:
    • Lin, De-Chen;
    • Hao, Jia-Jie;
    • Nagata, Yasunobu;
    • Xu, Liang;
    • Shang, Li;
    • Meng, Xuan;
    • Sato, Yusuke;
    • Okuno, Yusuke;
    • Varela, Ana Maria;
    • Ding, Ling-Wen;
    • Garg, Manoj;
    • Liu, Li-Zhen;
    • Yang, Henry;
    • Yin, Dong;
    • Shi, Zhi-Zhou;
    • Jiang, Yan-Yi;
    • Gu, Wen-Yue;
    • Gong, Ting;
    • Zhang, Yu;
    • Xu, Xin
    Publication type:
    Article
    25

    De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome.

    Published in:
    Nature Genetics, 2014, v. 46, n. 5, p. 510, doi. 10.1038/ng.2948
    By:
    • Mirzaa, Ghayda M;
    • Parry, David A;
    • Fry, Andrew E;
    • Giamanco, Kristin A;
    • Schwartzentruber, Jeremy;
    • Vanstone, Megan;
    • Logan, Clare V;
    • Roberts, Nicola;
    • Johnson, Colin A;
    • Singh, Shawn;
    • Kholmanskikh, Stanislav S;
    • Adams, Carissa;
    • Hodge, Rebecca D;
    • Hevner, Robert F;
    • Bonthron, David T;
    • Braun, Kees P J;
    • Faivre, Laurence;
    • Rivière, Jean-Baptiste;
    • St-Onge, Judith;
    • Gripp, Karen W
    Publication type:
    Article
    26
    27

    Genomic analysis of diffuse intrinsic pontine gliomas identifies three molecular subgroups and recurrent activating ACVR1 mutations.

    Published in:
    Nature Genetics, 2014, v. 46, n. 5, p. 451, doi. 10.1038/ng.2936
    By:
    • Buczkowicz, Pawel;
    • Hoeman, Christine;
    • Rakopoulos, Patricia;
    • Pajovic, Sanja;
    • Letourneau, Louis;
    • Dzamba, Misko;
    • Morrison, Andrew;
    • Lewis, Peter;
    • Bouffet, Eric;
    • Bartels, Ute;
    • Zuccaro, Jennifer;
    • Agnihotri, Sameer;
    • Ryall, Scott;
    • Barszczyk, Mark;
    • Chornenkyy, Yevgen;
    • Bourgey, Mathieu;
    • Bourque, Guillaume;
    • Montpetit, Alexandre;
    • Cordero, Francisco;
    • Castelo-Branco, Pedro
    Publication type:
    Article