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1 |
Material Type: Artigo
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Parental Origin of Interstitial Duplications at 15q11.2-q13.3 in Schizophrenia and Neurodevelopmental DisordersIsles, Anthony R ; Ingason, Andrés ; Lowther, Chelsea ; Walters, James ; Gawlick, Micha ; Stöber, Gerald ; Rees, Elliott ; Martin, Joanna ; Little, Rosie B ; Potter, Harry ; Georgieva, Lyudmila ; Pizzo, Lucilla ; Ozaki, Norio ; Aleksic, Branko ; Kushima, Itaru ; Ikeda, Masashi ; Iwata, Nakao ; Levinson, Douglas F ; Gejman, Pablo V ; Shi, Jianxin ; Sanders, Alan R ; Duan, Jubao ; Willis, Joseph ; Sisodiya, Sanjay ; Costain, Gregory ; Werge, Thomas M ; Degenhardt, Franziska ; Giegling, Ina ; Rujescu, Dan ; Hreidarsson, Stefan J ; Saemundsen, Evald ; Ahn, Joo Wook ; Ogilvie, Caroline ; Girirajan, Santhosh D ; Stefansson, Hreinn ; Stefansson, Kari ; O'Donovan, Michael C ; Owen, Michael J ; Bassett, Anne ; Kirov, George Bartolomei, Marisa SPLoS genetics, 2016-05, Vol.12 (5), p.e1005993 [Periódico revisado por pares]United States: Public Library of ScienceTexto completo disponível |
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Material Type: Artigo
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Cross-ancestry genome-wide meta-analysis of 61,047 cases and 947,237 controls identifies new susceptibility loci contributing to lung cancerByun, Jinyoung ; Han, Younghun ; Li, Yafang ; Xia, Jun ; Long, Erping ; Choi, Jiyeon ; Xiao, Xiangjun ; Zhu, Meng ; Zhou, Wen ; Sun, Ryan ; Bossé, Yohan ; Song, Zhuoyi ; Schwartz, Ann ; Lusk, Christine ; Rafnar, Thorunn ; Stefansson, Kari ; Zhang, Tongwu ; Zhao, Wei ; Pettit, Rowland W ; Liu, Yanhong ; Li, Xihao ; Zhou, Hufeng ; Walsh, Kyle M ; Gorlov, Ivan ; Gorlova, Olga ; Zhu, Dakai ; Rosenberg, Susan M ; Pinney, Susan ; Bailey-Wilson, Joan E ; Mandal, Diptasri ; de Andrade, Mariza ; Gaba, Colette ; Willey, James C ; You, Ming ; Anderson, Marshall ; Wiencke, John K ; Albanes, Demetrius ; Lam, Stephan ; Tardon, Adonina ; Chen, Chu ; Goodman, Gary ; Bojeson, Stig ; Brenner, Hermann ; Landi, Maria Teresa ; Chanock, Stephen J ; Johansson, Mattias ; Muley, Thomas ; Risch, Angela ; Wichmann, H-Erich ; Bickeböller, Heike ; Christiani, David C ; Rennert, Gad ; Arnold, Susanne ; Field, John K ; Shete, Sanjay ; Le Marchand, Loic ; Melander, Olle ; Brunnstrom, Hans ; Liu, Geoffrey ; Andrew, Angeline S ; Kiemeney, Lambertus A ; Shen, Hongbing ; Zienolddiny, Shanbeh ; Grankvist, Kjell ; Johansson, Mikael ; Caporaso, Neil ; Cox, Angela ; Hong, Yun-Chul ; Yuan, Jian-Min ; Lazarus, Philip ; Schabath, Matthew B ; Aldrich, Melinda C ; Patel, Alpa ; Lan, Qing ; Rothman, Nathaniel ; Taylor, Fiona ; Kachuri, Linda ; Witte, John S ; Sakoda, Lori C ; Spitz, Margaret ; Brennan, Paul ; Lin, Xihong ; McKay, James ; Hung, Rayjean J ; Amos, Christopher INature genetics, 2022-08, Vol.54 (8), p.1167-1177 [Periódico revisado por pares]United States: Nature Publishing GroupTexto completo disponível |
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Material Type: Artigo
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Large-Scale Screening for Monogenic and Clinically Defined Familial Hypercholesterolemia in IcelandBjörnsson, Eythór ; Thorgeirsson, Guðmundur ; Helgadóttir, Anna ; Thorleifsson, Guðmar ; Sveinbjörnsson, Garðar ; Kristmundsdóttir, Snaedís ; Jónsson, Hákon ; Jónasdóttir, Aðalbjörg ; Jónasdóttir, Áslaug ; Sigurðsson, Ásgeir ; Guðnason, Thórarinn ; Ólafsson, Ísleifur ; Sigurðsson, Emil L ; Sigurðardóttir, Ólöf ; Viðarsson, Brynjar ; Baldvinsson, Magnús ; Bjarnason, Ragnar ; Danielsen, Ragnar ; Matthíasson, Stefán E ; Thórarinsson, Björn L ; Grétarsdóttir, Sólveig ; Steinthórsdóttir, Valgerður ; Halldórsson, Bjarni V ; Andersen, Karl ; Arnar, Davíð O ; Jónsdóttir, Ingileif ; Guðbjartsson, Daníel F ; Hólm, Hilma ; Thorsteinsdóttir, Unnur ; Sulem, Patrick ; Stefánsson, KáriArteriosclerosis, thrombosis, and vascular biology, 2021-10, Vol.41 (10), p.2616-2628 [Periódico revisado por pares]United States: Lippincott Williams & WilkinsTexto completo disponível |
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Material Type: Artigo
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Identification of a large set of rare complete human knockoutsSulem, Patrick ; Helgason, Hannes ; Oddson, Asmundur ; Stefansson, Hreinn ; Gudjonsson, Sigurjon A ; Zink, Florian ; Hjartarson, Eirikur ; Sigurdsson, Gunnar Th ; Jonasdottir, Adalbjorg ; Jonasdottir, Aslaug ; Sigurdsson, Asgeir ; Magnusson, Olafur Th ; Kong, Augustine ; Helgason, Agnar ; Holm, Hilma ; Thorsteinsdottir, Unnur ; Masson, Gisli ; Gudbjartsson, Daniel F ; Stefansson, KariNature genetics, 2015-05, Vol.47 (5), p.448-452 [Periódico revisado por pares]United States: Nature Publishing GroupTexto completo disponível |
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Material Type: Artigo
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Four missense genetic variants in CUBN are associated with higher levels of eGFR in non-diabetes but not in diabetes mellitus or its subtypes: A genetic association study in EuropeansUglebjerg, Nicoline ; Ahmadizar, Fariba ; Aly, Dina M ; Cañadas-Garre, Marisa ; Hill, Claire ; Naber, Annemieke ; Oddsson, Asmundur ; Singh, Sunny S ; Smyth, Laura ; Trégouët, David-Alexandre ; Chaker, Layal ; Ghanbari, Mohsen ; Steinthorsdottir, Valgerdur ; Ahlqvist, Emma ; Hadjadj, Samy ; Van Hoek, Mandy ; Kavousi, Maryam ; McKnight, Amy Jayne ; Sijbrands, Eric J ; Stefansson, Kari ; Simons, Matias ; Rossing, Peter ; Ahluwalia, Tarunveer SFrontiers in endocrinology (Lausanne), 2023, Vol.14, p.1081741-1081741 [Periódico revisado por pares]Switzerland: FrontiersTexto completo disponível |
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Material Type: Artigo
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Reconstructing an African haploid genome from the 18th centuryJagadeesan, Anuradha ; Gunnarsdóttir, Ellen D ; Ebenesersdóttir, S Sunna ; Guðmundsdóttir, Valdis B ; Thordardottir, Elisabet Linda ; Einarsdóttir, Margrét S ; Jónsson, Hákon ; Dugoujon, Jean-Michel ; Fortes-Lima, Cesar ; Migot-Nabias, Florence ; Massougbodji, Achille ; Bellis, Gil ; Pereira, Luisa ; Másson, Gísli ; Kong, Augustine ; Stefánsson, Kári ; Helgason, AgnarNature genetics, 2018-02, Vol.50 (2), p.199-205 [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 rare genotypes in COMP and CHADL associated with high risk of hip osteoarthritisStyrkarsdottir, Unnur ; Helgason, Hannes ; Sigurdsson, Asgeir ; Norddahl, Gudmundur L ; Agustsdottir, Arna B ; Reynard, Louise N ; Villalvilla, Amanda ; Halldorsson, Gisli H ; Jonasdottir, Aslaug ; Magnusdottir, Audur ; Oddson, Asmundur ; Sulem, Gerald ; Zink, Florian ; Sveinbjornsson, Gardar ; Helgason, Agnar ; Johannsdottir, Hrefna S ; Helgadottir, Anna ; Stefansson, Hreinn ; Gretarsdottir, Solveig ; Rafnar, Thorunn ; Almdahl, Ina S ; Brækhus, Anne ; Fladby, Tormod ; Selbæk, Geir ; Hosseinpanah, Farhad ; Azizi, Fereidoun ; Koh, Jung Min ; Tang, Nelson L S ; Daneshpour, Maryam S ; Mayordomo, Jose I ; Welt, Corrine ; Braund, Peter S ; Samani, Nilesh J ; Kiemeney, Lambertus A ; Lohmander, L Stefan ; Christiansen, Claus ; Andreassen, Ole A ; Magnusson, Olafur ; Masson, Gisli ; Kong, Augustine ; Jonsdottir, Ingileif ; Gudbjartsson, Daniel ; Sulem, Patrick ; Jonsson, Helgi ; Loughlin, John ; Ingvarsson, Thorvaldur ; Thorsteinsdottir, Unnur ; Stefansson, KariNature genetics, 2017-05, Vol.49 (5), p.801 [Periódico revisado por pares]New York: Nature Publishing GroupTexto completo disponível |