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

Results: 27

    • 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

    • 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

    • 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

    • ACVR1 mutations and the genomic landscape of pediatric diffuse glioma.

      Published in:
      Nature Genetics, 2014, v. 46, n. 5, p. 421, doi. 10.1038/ng.2970
      By:
      • Zadeh, Gelareh;
      • Aldape, Kenneth
      Publication type:
      Article

    • 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

    • Clinical genome interpretation.

      Published in:
      Nature Genetics, 2014, v. 46, n. 5, p. 423, doi. 10.1038/ng.2975
      By:
      • Bahcall, Orli
      Publication type:
      Article

    • 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

    • GRM1 is upregulated through gene fusion and promoter swapping in chondromyxoid fibroma.

      Published in:
      Nature Genetics, 2014, v. 46, n. 5, p. 474, doi. 10.1038/ng.2927
      By:
      • Nord, Karolin H;
      • Lilljebjörn, Henrik;
      • Vezzi, Francesco;
      • Nilsson, Jenny;
      • Magnusson, Linda;
      • Tayebwa, Johnbosco;
      • de Jong, Danielle;
      • Bovée, Judith V M G;
      • Hogendoorn, Pancras C W;
      • Szuhai, Karoly
      Publication type:
      Article

    • 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

    • 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

    • 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

    • 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

    • 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

    • 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

    • 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

    • 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

    • 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

    • Researching the researchers.

      Published in:
      Nature Genetics, 2014, v. 46, n. 5, p. 417, doi. 10.1038/ng.2972
      Publication type:
      Article

    • 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

    • Oncogenic chimeric transcript.

      Published in:
      Nature Genetics, 2014, v. 46, n. 5, p. 423, doi. 10.1038/ng.2976
      By:
      • Niemitz, Emily
      Publication type:
      Article

    • The genomic landscape of diffuse intrinsic pontine glioma and pediatric non-brainstem high-grade glioma.

      Published in:
      Nature Genetics, 2014, v. 46, n. 5, p. 444, doi. 10.1038/ng.2938
      By:
      • Wu, Gang;
      • Diaz, Alexander K;
      • Paugh, Barbara S;
      • Rankin, Sherri L;
      • Ju, Bensheng;
      • Li, Yongjin;
      • Zhu, Xiaoyan;
      • Qu, Chunxu;
      • Chen, Xiang;
      • Zhang, Junyuan;
      • Easton, John;
      • Edmonson, Michael;
      • Ma, Xiaotu;
      • Lu, Charles;
      • Nagahawatte, Panduka;
      • Hedlund, Erin;
      • Rusch, Michael;
      • Pounds, Stanley;
      • Lin, Tong;
      • Onar-Thomas, Arzu
      Publication type:
      Article

    • 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

    • 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

    • 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

    • 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

    • Epigenetic reprogramming in treatment-resistant breast cancer.

      Published in:
      Nature Genetics, 2014, v. 46, n. 5, p. 423, doi. 10.1038/ng.2977
      By:
      • LaFlamme, Brooke
      Publication type:
      Article

    • 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