Result Number | Material Type | Add to My Shelf Action | Record Details and Options |
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1 |
Material Type: Artigo
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Contribution of copy number variants to schizophrenia from a genome-wide study of 41,321 subjectsMarshall, Christian R ; Wu, Wenting ; Antaki, Danny ; Pinto, Dalila ; Wang, Zhouzhi ; Maile, Michelle S ; Agartz, Ingrid ; Albus, Margot ; Amin, Farooq ; Atkins, Joshua ; Bacanu, Silviu A ; Bergen, Sarah E ; Cairns, Murray J ; Cantor, Rita M ; Carrera, Noa ; Catts, Stanley V ; Chambert, Kimberley D ; Cheng, Wei ; Cormican, Paul ; Craddock, Nick ; Crespo-Facorro, Benedicto ; Crowley, James J ; Davidson, Michael ; DeLisi, Lynn E ; Dikeos, Dimitris ; Donohoe, Gary ; Drapeau, Elodie ; Dudbridge, Frank ; Escott-Price, Valentina ; Freimer, Nelson B ; Friedman, Joseph I ; Georgieva, Lyudmila ; Gershon, Elliot S ; Goldstein, Jacqueline I ; Gratten, Jacob ; de Haan, Lieuwe ; Hansen, Mark ; Huang, Hailiang ; Ikeda, Masashi ; Joa, Inge ; Kalaydjieva, Luba ; Kavanagh, David ; Konte, Bettina ; Lee, S Hong ; Lerer, Bernard ; Magnusson, Patrik K E ; Maher, Brion S ; Mattheisen, Manuel ; McIntosh, Andrew M ; Meier, Sandra ; Milanova, Vihra ; Morris, Derek W ; Müller-Myhsok, Bertram ; Nenadic, Igor ; Nestadt, Gerald ; Nordin, Annelie ; O'Dushlaine, Colm ; Olincy, Ann ; Olsen, Line ; Pantelis, Christos ; Papadimitriou, George N ; Parkhomenko, Elena ; Pocklington, Andrew J ; Purcell, Shaun M ; Reichenberg, Abraham ; Reimers, Mark A ; Ruderfer, Douglas M ; Schulze, Thomas G ; Schwab, Sibylle G ; Scolnick, Edward M ; Scott, Rodney J ; Silverman, Jeremy M ; Söderman, Erik ; Strohmaier, Jana ; Suvisaari, Jaana ; Visscher, Peter M ; Webb, Bradley T ; Williams, Nigel M ; Williams, Stephanie ; Wormley, Brandon K ; Zai, Clement C ; Andreassen, Ole A ; Bramon, Elvira ; Daly, Mark J ; Darvasi, Ariel ; Esko, Tõnu ; Gill, Michael ; Jablensky, Assen V ; Jönsson, Erik G ; Kendler, Kenneth S ; McCarroll, Steven A ; Moran, Jennifer L ; Nöthen, Markus M ; Owen, Michael J ; Pato, Carlos N ; St Clair, David ; Walters, James T R ; O'Donovan, Michael C ; Scherer, Stephen W ; Neale, Benjamin MNature genetics, 2017-01, Vol.49 (1), p.27-35 [Periódico revisado por pares]United States: Nature Publishing GroupTexto completo disponível |
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2 |
Material Type: Artigo
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Characterization of Greater Middle Eastern genetic variation for enhanced disease gene discoveryScott, Eric M ; Halees, Anason ; Itan, Yuval ; Spencer, Emily G ; He, Yupeng ; Azab, Mostafa Abdellateef ; Gabriel, Stacey B ; Belkadi, Aziz ; Boisson, Bertrand ; Abel, Laurent ; Clark, Andrew G ; Alkuraya, Fowzan S ; Casanova, Jean-Laurent ; Gleeson, Joseph GNature genetics, 2016-09, Vol.48 (9), p.1071-1076 [Periódico revisado por pares]United States: Nature Publishing GroupTexto completo disponível |
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3 |
Material Type: Artigo
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Genetic association analyses implicate aberrant regulation of innate and adaptive immunity genes in the pathogenesis of systemic lupus erythematosusBentham, James ; Morris, David L ; Graham, Deborah S Cunninghame ; Pinder, Christopher L ; Tombleson, Philip ; Behrens, Timothy W ; Martín, Javier ; Fairfax, Benjamin P ; Knight, Julian C ; Chen, Lingyan ; Replogle, Joseph ; Syvänen, Ann-Christine ; Rönnblom, Lars ; Graham, Robert R ; Wither, Joan E ; Rioux, John D ; Alarcón-Riquelme, Marta E ; Vyse, Timothy JNature genetics, 2015-12, Vol.47 (12), p.1457-1464 [Periódico revisado por pares]United States: Nature Publishing GroupTexto completo disponível |
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4 |
Material Type: Artigo
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Meta-analysis of 375,000 individuals identifies 38 susceptibility loci for migraineGormley, Padhraig ; Anttila, Verneri ; Winsvold, Bendik S ; Palta, Priit ; Esko, Tonu ; Pers, Tune H ; Farh, Kai-How ; Cuenca-Leon, Ester ; Muona, Mikko ; Furlotte, Nicholas A ; Kurth, Tobias ; Ingason, Andres ; McMahon, George ; Terwindt, Gisela M ; Kallela, Mikko ; Freilinger, Tobias M ; Ran, Caroline ; Gordon, Scott G ; Stam, Anine H ; Borck, Guntram ; Koiranen, Markku ; Quaye, Lydia ; Adams, Hieab H H ; Lehtimäki, Terho ; Sarin, Antti-Pekka ; Wedenoja, Juho ; Hinds, David A ; Schürks, Markus ; Ridker, Paul M ; Hrafnsdottir, Maria Gudlaug ; Stefansson, Hreinn ; Ring, Susan M ; Hottenga, Jouke-Jan ; Penninx, Brenda W J H ; Färkkilä, Markus ; Artto, Ville ; Kaunisto, Mari ; Vepsäläinen, Salli ; Malik, Rainer ; Heath, Andrew C ; Madden, Pamela A F ; Martin, Nicholas G ; Montgomery, Grant W ; Kurki, Mitja I ; Kals, Mart ; Mägi, Reedik ; Pärn, Kalle ; Hämäläinen, Eija ; Huang, Hailiang ; Byrnes, Andrea E ; Franke, Lude ; Huang, Jie ; Stergiakouli, Evie ; Lee, Phil H ; Sandor, Cynthia ; Webber, Caleb ; Cader, Zameel ; Muller-Myhsok, Bertram ; Schreiber, Stefan ; Meitinger, Thomas ; Eriksson, Johan G ; Salomaa, Veikko ; Heikkilä, Kauko ; Loehrer, Elizabeth ; Uitterlinden, Andre G ; Hofman, Albert ; Cherkas, Lynn ; Pedersen, Linda M ; Stubhaug, Audun ; Männikkö, Minna ; Milani, Lili ; Göbel, Hartmut ; Esserlind, Ann-Louise ; Christensen, Anne Francke ; Hansen, Thomas Folkmann ; Werge, Thomas ; Kaprio, Jaakko ; Aromaa, Arpo J ; Ikram, M Arfan ; Spector, Tim ; Järvelin, Marjo-Riitta ; Metspalu, Andres ; Kubisch, Christian ; Strachan, David P ; Ferrari, Michel D ; Belin, Andrea C ; Dichgans, Martin ; Wessman, Maija ; van den Maagdenberg, Arn M J M ; Zwart, John-Anker ; Boomsma, Dorret I ; Smith, George Davey ; Stefansson, Kari ; Eriksson, Nicholas ; Daly, Mark J ; Neale, Benjamin M ; Olesen, Jes ; Chasman, Daniel I ; Nyholt, Dale R ; Palotie, AarnoNature genetics, 2016-08, Vol.48 (8), p.856-866 [Periódico revisado por pares]United States: Nature Publishing GroupTexto completo disponível |
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5 |
Material Type: Artigo
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M-CAP eliminates a majority of variants of uncertain significance in clinical exomes at high sensitivityJagadeesh, Karthik A ; Wenger, Aaron M ; Berger, Mark J ; Guturu, Harendra ; Stenson, Peter D ; Cooper, David N ; Bernstein, Jonathan A ; Bejerano, GillNature genetics, 2016-12, Vol.48 (12), p.1581-1586 [Periódico revisado por pares]United States: Nature Publishing GroupTexto completo disponível |
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6 |
Material Type: Artigo
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Genome-wide analyses for personality traits identify six genomic loci and show correlations with psychiatric disordersLo, Min-Tzu ; Hinds, David A ; Tung, Joyce Y ; Franz, Carol ; Fan, Chun-Chieh ; Wang, Yunpeng ; Smeland, Olav B ; Schork, Andrew ; Holland, Dominic ; Kauppi, Karolina ; Sanyal, Nilotpal ; Escott-Price, Valentina ; Smith, Daniel J ; O'Donovan, Michael ; Stefansson, Hreinn ; Bjornsdottir, Gyda ; Thorgeirsson, Thorgeir E ; Stefansson, Kari ; McEvoy, Linda K ; Dale, Anders M ; Andreassen, Ole A ; Chen, Chi-HuaNature genetics, 2017-01, Vol.49 (1), p.152-156 [Periódico revisado por pares]United States: Nature Publishing GroupTexto completo disponível |
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Material Type: Artigo
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Highly effective SNP-based association mapping and management of recessive defects in livestockCharlier, Carole ; Coppieters, Wouter ; Rollin, Frédéric ; Desmecht, Daniel ; Agerholm, Jorgen S ; Cambisano, Nadine ; Carta, Eloisa ; Dardano, Sabrina ; Dive, Marc ; Fasquelle, Corinne ; Frennet, Jean-Claude ; Hanset, Roger ; Hubin, Xavier ; Jorgensen, Claus ; Karim, Latifa ; Kent, Matthew ; Harvey, Kirsten ; Pearce, Brian R ; Simon, Patricia ; Tamma, Nico ; Nie, Haisheng ; Vandeputte, Sébastien ; Lien, Sigbjorn ; Longeri, Maria ; Fredholm, Merete ; Harvey, Robert J ; Georges, MichelNature genetics, 2008-04, Vol.40 (4), p.449-54 [Periódico revisado por pares]London: Nature Publishing GroupTexto completo disponível |
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8 |
Material Type: Artigo
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Long-read sequencing identifies GGC repeat expansions in NOTCH2NLC associated with neuronal intranuclear inclusion diseaseSone, Jun ; Mitsuhashi, Satomi ; Fujita, Atsushi ; Mizuguchi, Takeshi ; Hamanaka, Kohei ; Mori, Keiko ; Koike, Haruki ; Hashiguchi, Akihiro ; Takashima, Hiroshi ; Sugiyama, Hiroshi ; Kohno, Yutaka ; Takiyama, Yoshihisa ; Maeda, Kengo ; Doi, Hiroshi ; Koyano, Shigeru ; Takeuchi, Hideyuki ; Kawamoto, Michi ; Kohara, Nobuo ; Ando, Tetsuo ; Ieda, Toshiaki ; Kita, Yasushi ; Kokubun, Norito ; Tsuboi, Yoshio ; Katoh, Kazutaka ; Kino, Yoshihiro ; Katsuno, Masahisa ; Iwasaki, Yasushi ; Yoshida, Mari ; Tanaka, Fumiaki ; Suzuki, Ikuo K ; Frith, Martin C ; Matsumoto, Naomichi ; Sobue, GenNature genetics, 2019-08, Vol.51 (8), p.1215-1221 [Periódico revisado por pares]United States: Nature Publishing GroupTexto completo disponível |
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9 |
Material Type: Artigo
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Association of a germline copy number polymorphism of APOBEC3A and APOBEC3B with burden of putative APOBEC-dependent mutations in breast cancerNik-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 RNature genetics, 2014-05, Vol.46 (5), p.487-491 [Periódico revisado por pares]United States: Nature Publishing GroupTexto completo disponível |
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10 |
Material Type: Artigo
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Multi-ancestry genome-wide association study of 21,000 cases and 95,000 controls identifies new risk loci for atopic dermatitisPaternoster, Lavinia ; Waage, Johannes ; Baurecht, Hansjörg ; Strachan, David P ; Curtin, John A ; Tian, Chao ; Esparza-Gordillo, Jorge ; Alves, Alexessander Couto ; Thyssen, Jacob P ; den Dekker, Herman T ; Ferreira, Manuel A ; Altmaier, Elisabeth ; Sleiman, Patrick Ma ; Gonzalez, Juan R ; Kalb, Birgit ; Yanes, Maria Pino ; Xu, Cheng-Jian ; Carstensen, Lisbeth ; Pennell, Craig E ; Bustamante, Mariona ; Kreiner-Møller, Eskil ; Lockett, Gabrielle A ; Matanovic, Anja ; Kumar, Ashish ; Tung, Joyce Y ; Hirota, Tomomitsu ; Kubo, Michiaki ; McArdle, Wendy L ; Henderson, A J ; Kemp, John P ; Zheng, Jie ; Lee-Kirsch, Min Ae ; Arnold, Andreas ; Homuth, Georg ; Schmidt, Carsten O ; Mangold, Elisabeth ; Cichon, Sven ; Keil, Thomas ; Peters, Annette ; Lieb, Wolfgang ; Fölster-Holst, Regina ; Pekkanen, Juha ; Sebert, Sylvain ; Husemoen, Lise L ; Grarup, Niels ; de Jongste, Johan C ; Rivadeneira, Fernando ; Hofman, Albert ; Elbert, Niels J ; Uitterlinden, André G ; Matheson, Melanie C ; Ried, Janina S ; Zuo, Xian Bo ; Yin, Xian Yong ; Sun, Liang Dan ; O'Regan, Grainne M ; Fahy, Caoimhe Mr ; Campbell, Linda E ; Macek, Milan ; Hu, Donglei ; Postma, Dirkje S ; Geller, Frank ; Middeldorp, Christel M ; Hysi, Pirro ; Spector, Tim ; Tiesler, Carla Mt ; Thiering, Elisabeth ; Pahukasahasram, Badri ; Yang, James J ; Imboden, Medea ; Huntsman, Scott ; Vilor-Tejedor, Natàlia ; Myhre, Ronny ; Nystad, Wenche ; Söderhäll, Cilla ; Melén, Erik ; Ober, Carole ; Jacobsson, Bo ; Holloway, John W ; Hensch, Nicole M Probst ; Williams, L Keoki ; Godfrey, Keith M ; Boomsma, Dorret I ; Koppelman, Gerard H ; McLean, Wh Irwin ; Irvine, Alan D ; Zhang, Xue Jun ; Burchard, Esteban G ; Martin, Nicholas G ; Linneberg, Allan ; Jarvelin, Marjo-Riitta ; Noethen, Markus M ; Lau, Susanne ; Hübner, Norbert ; Lee, Young-Ae ; Tamari, Mayumi ; Brown, Sara J ; Heinrich, Joachim ; Evans, David M ; Weidinger, StephanNature genetics, 2015-12, Vol.47 (12), p.1449-1456 [Periódico revisado por pares]United States: Nature Publishing GroupTexto completo disponível |