Found: 32

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  • ITGA3 and epithelial integrity.

    Published in:
    Nature Genetics, 2012, v. 44, n. 6, p. 618, doi. 10.1038/ng.2319
    By:
    • Vogan, Kyle
    Publication type:
    Article

  • A genome-wide approach accounting for body mass index identifies genetic variants influencing fasting glycemic traits and insulin resistance.

    Published in:
    Nature Genetics, 2012, v. 44, n. 6, p. 659, doi. 10.1038/ng.2274
    By:
    • Manning, Alisa K;
    • Hivert, Marie-France;
    • Scott, Robert A;
    • Grimsby, Jonna L;
    • Bouatia-Naji, Nabila;
    • Chen, Han;
    • Rybin, Denis;
    • Liu, Ching-Ti;
    • Bielak, Lawrence F;
    • Prokopenko, Inga;
    • Amin, Najaf;
    • Barnes, Daniel;
    • Cadby, Gemma;
    • Hottenga, Jouke-Jan;
    • Ingelsson, Erik;
    • Jackson, Anne U;
    • Johnson, Toby;
    • Kanoni, Stavroula;
    • Ladenvall, Claes;
    • Lagou, Vasiliki
    Publication type:
    Article

  • CCDC103 mutations cause primary ciliary dyskinesia by disrupting assembly of ciliary dynein arms.

    Published in:
    Nature Genetics, 2012, v. 44, n. 6, p. 714, doi. 10.1038/ng.2277
    By:
    • Panizzi, Jennifer R;
    • Becker-Heck, Anita;
    • Castleman, Victoria H;
    • Al-Mutairi, Dalal A;
    • Liu, Yan;
    • Loges, Niki T;
    • Pathak, Narendra;
    • Austin-Tse, Christina;
    • Sheridan, Eamonn;
    • Schmidts, Miriam;
    • Olbrich, Heike;
    • Werner, Claudius;
    • Häffner, Karsten;
    • Hellman, Nathan;
    • Chodhari, Rahul;
    • Gupta, Amar;
    • Kramer-Zucker, Albrecht;
    • Olale, Felix;
    • Burdine, Rebecca D;
    • Schier, Alexander F
    Publication type:
    Article

  • Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome.

    Published in:
    Nature Genetics, 2012, v. 44, n. 6, p. 639, doi. 10.1038/ng.2262
    By:
    • Koolen, David A;
    • Kramer, Jamie M;
    • Neveling, Kornelia;
    • Nillesen, Willy M;
    • Moore-Barton, Heather L;
    • Elmslie, Frances V;
    • Toutain, Annick;
    • Amiel, Jeanne;
    • Malan, Valérie;
    • Tsai, Anne Chun-Hui;
    • Cheung, Sau Wai;
    • Gilissen, Christian;
    • Verwiel, Eugene T P;
    • Martens, Sarah;
    • Feuth, Ton;
    • Bongers, Ernie M H F;
    • de Vries, Petra;
    • Scheffer, Hans;
    • Vissers, Lisenka E L M;
    • de Brouwer, Arjan P M
    Publication type:
    Article

  • A genome-wide association study identifies susceptibility loci for Wilms tumor.

    Published in:
    Nature Genetics, 2012, v. 44, n. 6, p. 681, doi. 10.1038/ng.2251
    By:
    • Turnbull, Clare;
    • Perdeaux, Elizabeth R;
    • Pernet, David;
    • Naranjo, Arlene;
    • Renwick, Anthony;
    • Seal, Sheila;
    • Munoz-Xicola, Rosa Maria;
    • Hanks, Sandra;
    • Slade, Ingrid;
    • Zachariou, Anna;
    • Warren-Perry, Margaret;
    • Ruark, Elise;
    • Gerrard, Mary;
    • Hale, Juliet;
    • Hewitt, Martin;
    • Kohler, Janice;
    • Lane, Sheila;
    • Levitt, Gill;
    • Madi, Mabrook;
    • Morland, Bruce
    Publication type:
    Article

  • Exploring the variation within.

    Published in:
    Nature Genetics, 2012, v. 44, n. 6, p. 614, doi. 10.1038/ng.2311
    By:
    • Macosko, Evan Z;
    • McCarroll, Steven A
    Publication type:
    Article

  • Hereditary mixed polyposis syndrome is caused by a 40-kb upstream duplication that leads to increased and ectopic expression of the BMP antagonist GREM1.

    Published in:
    Nature Genetics, 2012, v. 44, n. 6, p. 699, doi. 10.1038/ng.2263
    By:
    • Jaeger, Emma;
    • Leedham, Simon;
    • Lewis, Annabelle;
    • Segditsas, Stefania;
    • Becker, Martin;
    • Cuadrado, Pedro Rodenas;
    • Davis, Hayley;
    • Kaur, Kulvinder;
    • Heinimann, Karl;
    • Howarth, Kimberley;
    • East, James;
    • Taylor, Jenny;
    • Thomas, Huw;
    • Tomlinson, Ian
    Publication type:
    Article

  • Epigenetic activation by long RNA.

    Published in:
    Nature Genetics, 2012, v. 44, n. 6, p. 618, doi. 10.1038/ng.2321
    By:
    • Niemitz, Emily
    Publication type:
    Article

  • Detectable clonal mosaicism from birth to old age and its relationship to cancer.

    Published in:
    Nature Genetics, 2012, v. 44, n. 6, p. 642, doi. 10.1038/ng.2271
    By:
    • Laurie, Cathy C;
    • Laurie, Cecelia A;
    • Rice, Kenneth;
    • Doheny, Kimberly F;
    • Zelnick, Leila R;
    • McHugh, Caitlin P;
    • Ling, Hua;
    • Hetrick, Kurt N;
    • Pugh, Elizabeth W;
    • Amos, Chris;
    • Wei, Qingyi;
    • Wang, Li-e;
    • Lee, Jeffrey E;
    • Barnes, Kathleen C;
    • Hansel, Nadia N;
    • Mathias, Rasika;
    • Daley, Denise;
    • Beaty, Terri H;
    • Scott, Alan F;
    • Ruczinski, Ingo
    Publication type:
    Article

  • Mutations in IRX5 impair craniofacial development and germ cell migration via SDF1.

    Published in:
    Nature Genetics, 2012, v. 44, n. 6, p. 709, doi. 10.1038/ng.2259
    By:
    • Bonnard, Carine;
    • Strobl, Anna C;
    • Shboul, Mohammad;
    • Lee, Hane;
    • Merriman, Barry;
    • Nelson, Stanley F;
    • Ababneh, Osama H;
    • Uz, Elif;
    • Güran, Tülay;
    • Kayserili, Hülya;
    • Hamamy, Hanan;
    • Reversade, Bruno
    Publication type:
    Article

  • Erratum: Common variants at 6q22 and 17q21 are associated with intracranial volume.

    Published in:
    2012
    By:
    • Ikram, M Arfan;
    • Fornage, Myriam;
    • Smith, Albert V;
    • Seshadri, Sudha;
    • Schmidt, Reinhold;
    • Debette, Stéphanie;
    • Vrooman, Henri A;
    • Sigurdsson, Sigurdur;
    • Ropele, Stefan;
    • Taal, H Rob;
    • Mook-Kanamori, Dennis O;
    • Coker, Laura H;
    • Longstreth, W T;
    • Niessen, Wiro J;
    • DeStefano, Anita L;
    • Beiser, Alexa;
    • Zijdenbos, Alex P;
    • Struchalin, Maksim;
    • Jack, Clifford R;
    • Rivadeneira, Fernando
    Publication type:
    Erratum

  • One gene's shattering effects.

    Published in:
    Nature Genetics, 2012, v. 44, n. 6, p. 616, doi. 10.1038/ng.2289
    By:
    • Olsen, Kenneth M
    Publication type:
    Article

  • Exome sequencing and the genetic basis of complex traits.

    Published in:
    Nature Genetics, 2012, v. 44, n. 6, p. 623, doi. 10.1038/ng.2303
    By:
    • Kiezun, Adam;
    • Garimella, Kiran;
    • Do, Ron;
    • Stitziel, Nathan O;
    • Neale, Benjamin M;
    • McLaren, Paul J;
    • Gupta, Namrata;
    • Sklar, Pamela;
    • Sullivan, Patrick F;
    • Moran, Jennifer L;
    • Hultman, Christina M;
    • Lichtenstein, Paul;
    • Magnusson, Patrik;
    • Lehner, Thomas;
    • Shugart, Yin Yao;
    • Price, Alkes L;
    • de Bakker, Paul I W;
    • Purcell, Shaun M;
    • Sunyaev, Shamil R
    Publication type:
    Article

  • Mutations in the RNA exosome component gene EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degeneration.

    Published in:
    Nature Genetics, 2012, v. 44, n. 6, p. 704, doi. 10.1038/ng.2254
    By:
    • Wan, Jijun;
    • Yourshaw, Michael;
    • Mamsa, Hafsa;
    • Rudnik-Schöneborn, Sabine;
    • Menezes, Manoj P;
    • Hong, Ji Eun;
    • Leong, Derek W;
    • Senderek, Jan;
    • Salman, Michael S;
    • Chitayat, David;
    • Seeman, Pavel;
    • von Moers, Arpad;
    • Graul-Neumann, Luitgard;
    • Kornberg, Andrew J;
    • Castro-Gago, Manuel;
    • Sobrido, María-Jesús;
    • Sanefuji, Masafumi;
    • Shieh, Perry B;
    • Salamon, Noriko;
    • Kim, Ronald C
    Publication type:
    Article

  • Erratum: A transposon in tb1 drove maize domestication.

    Published in:
    2012
    By:
    • Tsiantis, Miltos
    Publication type:
    Erratum

  • How do you feel?

    Published in:
    Nature Genetics, 2012, v. 44, n. 6, p. 618, doi. 10.1038/ng.2317
    By:
    • Feliciano, Pamela
    Publication type:
    Article

  • Traversing the genomic landscape of prostate cancer from diagnosis to death.

    Published in:
    Nature Genetics, 2012, v. 44, n. 6, p. 613, doi. 10.1038/ng.2301
    By:
    • Hieronymus, Haley;
    • Sawyers, Charles L
    Publication type:
    Article

  • Extremely low-coverage sequencing and imputation increases power for genome-wide association studies.

    Published in:
    Nature Genetics, 2012, v. 44, n. 6, p. 631, doi. 10.1038/ng.2283
    By:
    • Pasaniuc, Bogdan;
    • Rohland, Nadin;
    • McLaren, Paul J;
    • Garimella, Kiran;
    • Zaitlen, Noah;
    • Li, Heng;
    • Gupta, Namrata;
    • Neale, Benjamin M;
    • Daly, Mark J;
    • Sklar, Pamela;
    • Sullivan, Patrick F;
    • Bergen, Sarah;
    • Moran, Jennifer L;
    • Hultman, Christina M;
    • Lichtenstein, Paul;
    • Magnusson, Patrik;
    • Purcell, Shaun M;
    • Haas, David W;
    • Liang, Liming;
    • Sunyaev, Shamil
    Publication type:
    Article

  • piRNA, epigenetics and memory formation.

    Published in:
    Nature Genetics, 2012, v. 44, n. 6, p. 618, doi. 10.1038/ng.2318
    By:
    • Niemitz, Emily
    Publication type:
    Article

  • The Pediatric Cancer Genome Project.

    Published in:
    Nature Genetics, 2012, v. 44, n. 6, p. 619, doi. 10.1038/ng.2287
    By:
    • Downing, James R;
    • Wilson, Richard K;
    • Zhang, Jinghui;
    • Mardis, Elaine R;
    • Pui, Ching-Hon;
    • Ding, Li;
    • Ley, Timothy J;
    • Evans, William E
    Publication type:
    Article

  • Integrated analysis of somatic mutations and focal copy-number changes identifies key genes and pathways in hepatocellular carcinoma.

    Published in:
    Nature Genetics, 2012, v. 44, n. 6, p. 694, doi. 10.1038/ng.2256
    By:
    • Guichard, Cécile;
    • Amaddeo, Giuliana;
    • Imbeaud, Sandrine;
    • Ladeiro, Yannick;
    • Pelletier, Laura;
    • Maad, Ichrafe Ben;
    • Calderaro, Julien;
    • Bioulac-Sage, Paulette;
    • Letexier, Mélanie;
    • Degos, Françoise;
    • Clément, Bruno;
    • Balabaud, Charles;
    • Chevet, Eric;
    • Laurent, Alexis;
    • Couchy, Gabrielle;
    • Letouzé, Eric;
    • Calvo, Fabien;
    • Zucman-Rossi, Jessica
    Publication type:
    Article

  • Meta-analysis identifies six new susceptibility loci for atrial fibrillation.

    Published in:
    Nature Genetics, 2012, v. 44, n. 6, p. 670, doi. 10.1038/ng.2261
    By:
    • Ellinor, Patrick T;
    • Lunetta, Kathryn L;
    • Albert, Christine M;
    • Glazer, Nicole L;
    • Ritchie, Marylyn D;
    • Smith, Albert V;
    • Arking, Dan E;
    • Müller-Nurasyid, Martina;
    • Krijthe, Bouwe P;
    • Lubitz, Steven A;
    • Bis, Joshua C;
    • Chung, Mina K;
    • Dörr, Marcus;
    • Ozaki, Kouichi;
    • Roberts, Jason D;
    • Smith, J Gustav;
    • Pfeufer, Arne;
    • Sinner, Moritz F;
    • Lohman, Kurt;
    • Ding, Jingzhong
    Publication type:
    Article

  • Corrigendum: Arabidopsis thaliana as a model for the genetics of local adaptation.

    Published in:
    2012
    By:
    • Gaut, Brandon
    Publication type:
    Erratum

  • Detectable clonal mosaicism and its relationship to aging and cancer.

    Published in:
    Nature Genetics, 2012, v. 44, n. 6, p. 651, doi. 10.1038/ng.2270
    By:
    • Jacobs, Kevin B;
    • Yeager, Meredith;
    • Zhou, Weiyin;
    • Wacholder, Sholom;
    • Wang, Zhaoming;
    • Rodriguez-Santiago, Benjamin;
    • Hutchinson, Amy;
    • Deng, Xiang;
    • Liu, Chenwei;
    • Horner, Marie-Josephe;
    • Cullen, Michael;
    • Epstein, Caroline G;
    • Burdett, Laurie;
    • Dean, Michael C;
    • Chatterjee, Nilanjan;
    • Sampson, Joshua;
    • Chung, Charles C;
    • Kovaks, Joseph;
    • Gapstur, Susan M;
    • Stevens, Victoria L
    Publication type:
    Article

  • The '3Is' of animal experimentation.

    Published in:
    Nature Genetics, 2012, v. 44, n. 6, p. 611, doi. 10.1038/ng.2322
    Publication type:
    Article

  • A model-based approach for analysis of spatial structure in genetic data.

    Published in:
    Nature Genetics, 2012, v. 44, n. 6, p. 725, doi. 10.1038/ng.2285
    By:
    • Yang, Wen-Yun;
    • Novembre, John;
    • Eskin, Eleazar;
    • Halperin, Eran
    Publication type:
    Article

  • Genome-wide association analyses identify 13 new susceptibility loci for generalized vitiligo.

    Published in:
    Nature Genetics, 2012, v. 44, n. 6, p. 676, doi. 10.1038/ng.2272
    By:
    • Jin, Ying;
    • Birlea, Stanca A;
    • Fain, Pamela R;
    • Ferrara, Tracey M;
    • Ben, Songtao;
    • Riccardi, Sheri L;
    • Cole, Joanne B;
    • Gowan, Katherine;
    • Holland, Paulene J;
    • Bennett, Dorothy C;
    • Luiten, Rosalie M;
    • Wolkerstorfer, Albert;
    • van der Veen, J P Wietze;
    • Hartmann, Anke;
    • Eichner, Saskia;
    • Schuler, Gerold;
    • van Geel, Nanja;
    • Lambert, Jo;
    • Kemp, E Helen;
    • Gawkrodger, David J
    Publication type:
    Article

  • Exome sequencing identifies recurrent SPOP, FOXA1 and MED12 mutations in prostate cancer.

    Published in:
    Nature Genetics, 2012, v. 44, n. 6, p. 685, doi. 10.1038/ng.2279
    By:
    • Barbieri, Christopher E;
    • Baca, Sylvan C;
    • Lawrence, Michael S;
    • Demichelis, Francesca;
    • Blattner, Mirjam;
    • Theurillat, Jean-Philippe;
    • White, Thomas A;
    • Stojanov, Petar;
    • Van Allen, Eliezer;
    • Stransky, Nicolas;
    • Nickerson, Elizabeth;
    • Chae, Sung-Suk;
    • Boysen, Gunther;
    • Auclair, Daniel;
    • Onofrio, Robert C;
    • Park, Kyung;
    • Kitabayashi, Naoki;
    • MacDonald, Theresa Y;
    • Sheikh, Karen;
    • Vuong, Terry
    Publication type:
    Article

  • Parallel domestication of the Shattering1 genes in cereals.

    Published in:
    Nature Genetics, 2012, v. 44, n. 6, p. 720, doi. 10.1038/ng.2281
    By:
    • Lin, Zhongwei;
    • Li, Xianran;
    • Shannon, Laura M;
    • Yeh, Cheng-Ting;
    • Wang, Ming L;
    • Bai, Guihua;
    • Peng, Zhao;
    • Li, Jiarui;
    • Trick, Harold N;
    • Clemente, Thomas E;
    • Doebley, John;
    • Schnable, Patrick S;
    • Tuinstra, Mitchell R;
    • Tesso, Tesfaye T;
    • White, Frank;
    • Yu, Jianming
    Publication type:
    Article

  • Exome sequencing of liver fluke-associated cholangiocarcinoma.

    Published in:
    Nature Genetics, 2012, v. 44, n. 6, p. 690, doi. 10.1038/ng.2273
    By:
    • Ong, Choon Kiat;
    • Subimerb, Chutima;
    • Pairojkul, Chawalit;
    • Wongkham, Sopit;
    • Cutcutache, Ioana;
    • Yu, Willie;
    • McPherson, John R;
    • Allen, George E;
    • Ng, Cedric Chuan Young;
    • Wong, Bernice Huimin;
    • Myint, Swe Swe;
    • Rajasegaran, Vikneswari;
    • Heng, Hong Lee;
    • Gan, Anna;
    • Zang, Zhi Jiang;
    • Wu, Yingting;
    • Wu, Jeanie;
    • Lee, Ming Hui;
    • Huang, DaChuan;
    • Ong, Pauline
    Publication type:
    Article

  • Genetics of blond hair.

    Published in:
    Nature Genetics, 2012, v. 44, n. 6, p. 618, doi. 10.1038/ng.2320
    By:
    • Bahcall, Orli
    Publication type:
    Article

  • Mutations in KANSL1 cause the 17q21.31 microdeletion syndrome phenotype.

    Published in:
    Nature Genetics, 2012, v. 44, n. 6, p. 636, doi. 10.1038/ng.2257
    By:
    • Zollino, Marcella;
    • Orteschi, Daniela;
    • Murdolo, Marina;
    • Lattante, Serena;
    • Battaglia, Domenica;
    • Stefanini, Chiara;
    • Mercuri, Eugenio;
    • Chiurazzi, Pietro;
    • Neri, Giovanni;
    • Marangi, Giuseppe
    Publication type:
    Article