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1 |
Material Type: Artigo
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Common genetic variants influence human subcortical brain structuresStein, Jason L ; Desrivières, Sylvane ; Toro, Roberto ; Armstrong, Nicola J ; Bernard, Manon ; Bralten, Janita ; Brown, Andrew A ; Ching, Christopher R K ; den Braber, Anouk ; Woldehawariat, Girma ; Janowitz, Deborah ; Jia, Tianye ; Lee, Phil H ; Macare, Christine ; Ramasamy, Adaikalavan ; Risacher, Shannon L ; Schmaal, Lianne ; Westlye, Lars T ; Athanasiu, Lavinia ; Hakobjan, Marina M H ; Haukvik, Unn K ; Heister, Angelien J G A M ; Hoehn, David ; Lopez, Lorna M ; Royle, Natalie A ; van Hulzen, Kimm J E ; Walton, Esther ; Ames, David ; Assareh, Amelia A ; Bastin, Mark E ; Corvin, Aiden ; de Zubicaray, Greig I ; Duggirala, Ravi ; Dyer, Thomas D ; Erk, Susanne ; Fedko, Iryna O ; Guelfi, Sebastian ; Hansell, Narelle K ; Hegenscheid, Katrin ; Heinz, Andreas ; Hoekstra, Pieter J ; Jenkinson, Mark ; Kent, Jr, Jack W ; Longo, Dan L ; Meisenzahl, Eva ; Melle, Ingrid ; Mohnke, Sebastian ; Mostert, Jeanette C ; Nalls, Michael A ; Nilsson, Lars G ; Reppermund, Simone ; Rujescu, Dan ; Schnell, Knut ; Steen, Vidar M ; Thalamuthu, Anbupalam ; Toga, Arthur W ; Troncoso, Juan ; van 't Ent, Dennis ; van der Brug, Marcel ; Veltman, Dick J ; Wassink, Thomas H ; Westman, Eric ; Zielke, Ronald H ; Ashbrook, David G ; Morris, Derek W ; Buckner, Randy L ; Dale, Anders M ; Delanty, Norman ; Kahn, René S ; Meyer-Lindenberg, Andreas ; Müller-Myhsok, Bertram ; Nyberg, Lars ; Sisodiya, Sanjay M ; van Bokhoven, Hans ; Völzke, Henry ; Weiner, Michael W ; Agartz, Ingrid ; Andreassen, Ole A ; Blangero, John ; Cannon, Dara M ; Deary, Ian J ; Fisher, Simon E ; Glahn, David C ; Grabe, Hans J ; Hulshoff Pol, Hilleke E ; Lovestone, Simon ; Mecocci, Patrizia ; McIntosh, Andrew M ; Ophoff, Roel A ; Ryten, Mina ; Wardlaw, Joanna M ; Schmidt, Reinhold ; Yanek, Lisa ; Greve, Douglas ; Nyquist, Paul ; Vinke, Louis N ; Mazoyer, Bernard ; Wright, Margaret J ; Schumann, Gunter ; Thompson, Paul MNature (London), 2015-04, Vol.520 (7546), p.224-229 [Periódico revisado por pares]England: Nature Publishing GroupTexto completo disponível |
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Material Type: Artigo
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Genome-wide enhancer maps link risk variants to disease genesNasser, Joseph ; Bergman, Drew T ; Fulco, Charles P ; Guckelberger, Philine ; Doughty, Benjamin R ; Patwardhan, Tejal A ; Jones, Thouis R ; Nguyen, Tung H ; Ulirsch, Jacob C ; Lekschas, Fritz ; Mualim, Kristy ; Natri, Heini M ; Weeks, Elle M ; Munson, Glen ; Kane, Michael ; Kang, Helen Y ; Cui, Ang ; Ray, John P ; Eisenhaure, Thomas M ; Collins, Ryan L ; Dey, Kushal ; Pfister, Hanspeter ; Price, Alkes L ; Epstein, Charles B ; Kundaje, Anshul ; Xavier, Ramnik J ; Daly, Mark J ; Huang, Hailiang ; Finucane, Hilary K ; Hacohen, Nir ; Lander, Eric S ; Engreitz, Jesse MNature (London), 2021-05, Vol.593 (7858), p.238-243 [Periódico revisado por pares]England: Nature Publishing GroupTexto completo disponível |
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Material Type: Artigo
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The mutational constraint spectrum quantified from variation in 141,456 humansKarczewski, Konrad J ; Francioli, Laurent C ; Tiao, Grace ; Cummings, Beryl B ; Alföldi, Jessica ; Wang, Qingbo ; Collins, Ryan L ; Laricchia, Kristen M ; Ganna, Andrea ; Birnbaum, Daniel P ; Gauthier, Laura D ; Brand, Harrison ; Solomonson, Matthew ; Watts, Nicholas A ; Rhodes, Daniel ; Singer-Berk, Moriel ; England, Eleina M ; Seaby, Eleanor G ; Kosmicki, Jack A ; Walters, Raymond K ; Tashman, Katherine ; Farjoun, Yossi ; Banks, Eric ; Poterba, Timothy ; Wang, Arcturus ; Seed, Cotton ; Whiffin, Nicola ; Chong, Jessica X ; Samocha, Kaitlin E ; Pierce-Hoffman, Emma ; Zappala, Zachary ; O'Donnell-Luria, Anne H ; Minikel, Eric Vallabh ; Weisburd, Ben ; Lek, Monkol ; Ware, James S ; Vittal, Christopher ; Armean, Irina M ; Bergelson, Louis ; Cibulskis, Kristian ; Connolly, Kristen M ; Covarrubias, Miguel ; Donnelly, Stacey ; Ferriera, Steven ; Gabriel, Stacey ; Gentry, Jeff ; Gupta, Namrata ; Jeandet, Thibault ; Kaplan, Diane ; Llanwarne, Christopher ; Munshi, Ruchi ; Novod, Sam ; Petrillo, Nikelle ; Roazen, David ; Ruano-Rubio, Valentin ; Saltzman, Andrea ; Schleicher, Molly ; Soto, Jose ; Tibbetts, Kathleen ; Tolonen, Charlotte ; Wade, Gordon ; Talkowski, Michael E ; Neale, Benjamin M ; Daly, Mark J ; MacArthur, Daniel GNature (London), 2020-05, Vol.581 (7809), p.434-443 [Periódico revisado por pares]England: Nature Publishing GroupTexto completo disponível |
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Material Type: Artigo
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Rare variant contribution to human disease in 281,104 UK Biobank exomesWang, Quanli ; Dhindsa, Ryan S ; Carss, Keren ; Harper, Andrew R ; Nag, Abhishek ; Tachmazidou, Ioanna ; Vitsios, Dimitrios ; Deevi, Sri V V ; Mackay, Alex ; Muthas, Daniel ; Hühn, Michael ; Monkley, Susan ; Olsson, Henric ; Wasilewski, Sebastian ; Smith, Katherine R ; March, Ruth ; Platt, Adam ; Haefliger, Carolina ; Petrovski, SlavéNature (London), 2021-09, Vol.597 (7877), p.527-532 [Periódico revisado por pares]England: Nature Publishing GroupTexto completo disponível |
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Material Type: Artigo
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De novo variants in neurodevelopmental disorders with epilepsyHeyne, Henrike O ; Singh, Tarjinder ; Stamberger, Hannah ; Abou Jamra, Rami ; Caglayan, Hande ; Craiu, Dana ; De Jonghe, Peter ; Guerrini, Renzo ; Helbig, Katherine L ; Koeleman, Bobby P C ; Kosmicki, Jack A ; Linnankivi, Tarja ; May, Patrick ; Muhle, Hiltrud ; Møller, Rikke S ; Neubauer, Bernd A ; Palotie, Aarno ; Pendziwiat, Manuela ; Striano, Pasquale ; Tang, Sha ; Wu, Sitao ; Poduri, Annapurna ; Weber, Yvonne G ; Weckhuysen, Sarah ; Sisodiya, Sanjay M ; Daly, Mark J ; Helbig, Ingo ; Lal, Dennis ; Lemke, Johannes RNature genetics, 2018-07, Vol.50 (7), p.1048-1053 [Periódico revisado por pares]United States: Nature Publishing GroupTexto completo disponível |
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Material Type: Artigo
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Whole-genome sequencing identifies common-to-rare variants associated with human blood metabolitesLong, Tao ; Hicks, Michael ; Yu, Hung-Chun ; Biggs, William H ; Kirkness, Ewen F ; Menni, Cristina ; Zierer, Jonas ; Small, Kerrin S ; Mangino, Massimo ; Messier, Helen ; Brewerton, Suzanne ; Turpaz, Yaron ; Perkins, Brad A ; Evans, Anne M ; Miller, Luke A D ; Guo, Lining ; Caskey, C Thomas ; Schork, Nicholas J ; Garner, Chad ; Spector, Tim D ; Venter, J Craig ; Telenti, AmalioNature genetics, 2017-04, Vol.49 (4), p.568-578 [Periódico revisado por pares]United States: Nature Publishing GroupTexto completo disponível |
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Material Type: Artigo
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Genetic Variants Associated With Cancer Therapy–Induced CardiomyopathyGarcia-Pavia, Pablo ; Kim, Yuri ; Restrepo-Cordoba, Maria Alejandra ; Lunde, Ida G ; Wakimoto, Hiroko ; Smith, Amanda M ; Toepfer, Christopher N ; Getz, Kelly ; Gorham, Joshua ; Patel, Parth ; Ito, Kaoru ; Willcox, Jonathan A ; Arany, Zoltan ; Li, Jian ; Owens, Anjali T ; Govind, Risha ; Nuñez, Beatriz ; Mazaika, Erica ; Bayes-Genis, Antoni ; Walsh, Roddy ; Finkelman, Brian ; Lupon, Josep ; Whiffin, Nicola ; Serrano, Isabel ; Midwinter, William ; Wilk, Alicja ; Bardaji, Alfredo ; Ingold, Nathan ; Buchan, Rachel ; Tayal, Upasana ; Pascual-Figal, Domingo A ; de Marvao, Antonio ; Ahmad, Mian ; Garcia-Pinilla, Jose Manuel ; Pantazis, Antonis ; Dominguez, Fernando ; John Baksi, A ; O’Regan, Declan P ; Rosen, Stuart D ; Prasad, Sanjay K ; Lara-Pezzi, Enrique ; Provencio, Mariano ; Lyon, Alexander R ; Alonso-Pulpon, Luis ; Cook, Stuart A ; DePalma, Steven R ; Barton, Paul J.R ; Aplenc, Richard ; Seidman, Jonathan G ; Ky, Bonnie ; Ware, James S ; Seidman, Christine ECirculation (New York, N.Y.), 2019-07, Vol.140 (1), p.31-41 [Periódico revisado por pares]United States: by the American College of Cardiology Foundation and the American Heart Association, IncTexto completo disponível |
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Material Type: Artigo
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The UK10K project identifies rare variants in health and diseaseWalter, Klaudia ; Min, Josine L ; Huang, Jie ; Crooks, Lucy ; Memari, Yasin ; McCarthy, Shane ; Perry, John R B ; Xu, ChangJiang ; Futema, Marta ; Lawson, Daniel ; Iotchkova, Valentina ; Schiffels, Stephan ; Hendricks, Audrey E ; Danecek, Petr ; Li, Rui ; Floyd, James ; Wain, Louise V ; Barroso, Inês ; Humphries, Steve E ; Hurles, Matthew E ; Zeggini, Eleftheria ; Barrett, Jeffrey C ; Plagnol, Vincent ; Richards, J Brent ; Greenwood, Celia M T ; Timpson, Nicholas J ; Durbin, Richard ; Soranzo, NicoleNature (London), 2015-10, Vol.526 (7571), p.82-90 [Periódico revisado por pares]England: Nature Publishing GroupTexto completo disponível |
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Material Type: Artigo
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Rare loss-of-function variants in SETD1A are associated with schizophrenia and developmental disordersSingh, Tarjinder ; Kurki, Mitja I ; Curtis, David ; Purcell, Shaun M ; Crooks, Lucy ; McRae, Jeremy ; Suvisaari, Jaana ; Chheda, Himanshu ; Blackwood, Douglas ; Breen, Gerome ; Pietiläinen, Olli ; Gerety, Sebastian S ; Ayub, Muhammad ; Blyth, Moira ; Cole, Trevor ; Collier, David ; Coomber, Eve L ; Craddock, Nick ; Daly, Mark J ; Danesh, John ; DiForti, Marta ; Foster, Alison ; Freimer, Nelson B ; Geschwind, Daniel ; Johnstone, Mandy ; Joss, Shelagh ; Kirov, Georg ; Körkkö, Jarmo ; Kuismin, Outi ; Holmans, Peter ; Hultman, Christina M ; Iyegbe, Conrad ; Lönnqvist, Jouko ; Männikkö, Minna ; McCarroll, Steve A ; McGuffin, Peter ; McIntosh, Andrew M ; McQuillin, Andrew ; Moilanen, Jukka S ; Moore, Carmel ; Murray, Robin M ; Newbury-Ecob, Ruth ; Ouwehand, Willem ; Paunio, Tiina ; Prigmore, Elena ; Rees, Elliott ; Roberts, David ; Sambrook, Jennifer ; Sklar, Pamela ; St Clair, David ; Veijola, Juha ; Walters, James T R ; Williams, Hywel ; Sullivan, Patrick F ; Hurles, Matthew E ; O'Donovan, Michael C ; Palotie, Aarno ; Owen, Michael J ; Barrett, Jeffrey CNature neuroscience, 2016-04, Vol.19 (4), p.571-577 [Periódico revisado por pares]United States: Nature Publishing GroupTexto completo disponível |
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Material Type: Artigo
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Defining the genetic architecture of hypertrophic cardiomyopathy: re-evaluating the role of non-sarcomeric genesWalsh, Roddy ; Buchan, Rachel ; Wilk, Alicja ; John, Shibu ; Felkin, Leanne E ; Thomson, Kate L ; Chiaw, Tang Hak ; Loong, Calvin Chin Woon ; Pua, Chee Jian ; Raphael, Claire ; Prasad, Sanjay ; Barton, Paul J ; Funke, Birgit ; Watkins, Hugh ; Ware, James S ; Cook, Stuart AEuropean heart journal, 2017-12, Vol.38 (46), p.3461-3468 [Periódico revisado por pares]England: Oxford University PressTexto completo disponível |