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Material Type: Artigo
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Exome sequencing of 20,791 cases of type 2 diabetes and 24,440 controlsMercader, Josep M ; Udler, Miriam S ; Wessel, Jennifer ; Teslovich, Tanya M ; Caulkins, Lizz ; Barajas-Olmos, Francisco ; Boerwinkle, Eric ; Chen, Ling ; Contreras-Cubas, Cecilia ; Córdova, Emilio ; Correa, Adolfo ; DeFronzo, Ralph A ; Dolan, Lawrence ; Elliott, Amanda ; Floyd, James S ; Garay-Sevilla, Maria Eugenia ; García-Ortiz, Humberto ; Heard-Costa, Nancy L ; Jørgensen, Marit E ; Kang, Hyun Min ; Kelsey, Megan ; Linneberg, Allan ; Liu, Ching-Ti ; Liu, Jianjun ; Lyssenko, Valeriya ; Marcketta, Anthony ; Martínez-Hernández, Angélica ; Mayer-Davis, Elizabeth ; Morrison, Alanna C ; Ndungu, Anne ; Ng, Maggie C Y ; O'Dushlaine, Colm ; Post, Wendy S ; Vasan, Ramachandran S ; Rayner, N William ; Revilla-Monsalve, Cristina ; Santoro, Nicola ; Schurmann, Claudia ; Soberón, Xavier ; Strom, Tim M ; Thameem, Farook ; Torres, Jason M ; Vujkovic, Marijana ; Witte, Daniel R ; Atzmon, Gil ; Blangero, John ; Bonnycastle, Lori L ; Chan, Edmund ; Cheng, Ching-Yu ; Collins, Francis S ; de Vries, Paul S ; Glaser, Benjamin ; Gonzalez, Ma Elena ; Groop, Leif ; Kooner, Jaspal Singh ; Kwak, Soo Heon ; Laakso, Markku ; Nilsson, Peter ; Spector, Timothy D ; Tai, E Shyong ; Tuomilehto, Jaakko ; Wilson, James G ; Burke, Brian ; Carey, David J ; Frossard, Philippe ; Hwang, Mi Yeong ; Kim, Young Jin ; Kirchner, H Lester ; Lee, Jong-Young ; Lee, Juyoung ; Loos, Ruth J F ; Ma, Ronald C W ; Morris, Andrew D ; Palmer, Colin N A ; Pankow, James ; Rasheed, Asif ; Saleheen, Danish ; Sim, Xueling ; Small, Kerrin S ; Teo, Yik Ying ; Haiman, Christopher ; Hanis, Craig L ; Dewey, Frederick E ; Baras, Aris ; Gieger, Christian ; Meitinger, Thomas ; Lange, Leslie ; Pedersen, Oluf ; Zeitler, Philip ; Dabelea, Dana ; Abecasis, Goncalo ; Cox, Nancy J ; Sladek, Rob ; Meigs, James B ; Rotter, Jerome I ; Altshuler, David ; Burtt, Noël P ; Morris, Andrew P ; Florez, Jose C ; Boehnke, MichaelNature (London), 2019-06, Vol.570 (7759), p.71-76 [Periódico revisado por pares]England: Nature Publishing GroupTexto completo disponível |
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Material Type: Artigo
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Contribution of rare whole-genome sequencing variants to plasma protein levels and the missing heritabilityKierczak, Marcin ; Rafati, Nima ; Höglund, Julia ; Gourlé, Hadrien ; Lo Faro, Valeria ; Schmitz, Daniel ; Ek, Weronica E ; Gyllensten, Ulf ; Enroth, Stefan ; Ekman, Diana ; Nystedt, Björn ; Karlsson, Torgny ; Johansson, ÅsaNature communications, 2022-05, Vol.13 (1), p.2532-2532, Article 2532 [Periódico revisado por pares]England: Nature Publishing GroupTexto completo disponível |
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Material Type: Artigo
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PWAS: proteome-wide association study-linking genes and phenotypes by functional variation in proteinsBrandes, Nadav ; Linial, Nathan ; Linial, MichalGenome Biology, 2020-07, Vol.21 (1), p.173-173, Article 173 [Periódico revisado por pares]England: BioMed CentralTexto completo disponível |
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Material Type: Artigo
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Mapping genomic loci implicates genes and synaptic biology in schizophreniaPanagiotaropoulou, Georgia ; Bigdeli, Tim B ; Bryois, Julien ; Dennison, Charlotte A ; Lam, Max ; Watanabe, Kyoko ; Frei, Oleksandr ; Magnusson, Sigurdur ; Agartz, Ingrid ; Alexander, Madeline ; Alizadeh, Behrooz Z ; Bass, Nicholas J ; Bene, Judit ; Calkins, Monica E ; Castle, David ; Chong, Siow Ann ; Cohen, David ; Curtis, Charles ; Davidson, Michael ; de Haan, Lieuwe ; Djurovic, Srdjan ; Ducci, Giuseppe ; Fañanás, Lourdes ; Gershon, Elliot S ; González-Pinto, Ana ; Gratten, Jacob ; Gülöksüz, Sinan ; Harvey, Carol ; Ikeda, Masashi ; Joa, Inge ; Julià, Antonio ; Kebir, Oussama ; Kondratiev, Nikolay ; Kusumawardhani, Agung ; Lazzeroni, Laura C ; Legge, Sophie E ; Limborska, Svetlana ; Liu, Chih-Min ; Macek, Jr, Milan ; Malaspina, Dolores ; Martorell, Lourdes ; Mattheisen, Manuel ; McDonald, Colm ; Medeiros, Helena ; Milani, Lili ; Mitjans, Marina ; Molden, Espen ; Muntané, Gerard ; Nestadt, Gerald ; Nikitina-Zake, Liene ; Oh, Sang-Yun ; Ota, Vanessa Kiyomi ; Pellegrino, Renata ; Pfuhlmann, Bruno ; Rapaport, Mark H ; Rutten, Bart P F ; Saker-Delye, Safaa ; Seidman, Larry J ; Sim, Kang ; Skarabis, Nora ; Söderman, Erik ; Stain, Helen J ; Suvisaari, Jaana ; Szatkiewicz, Jin P ; Takahashi, Atsushi ; Terao, Chikashi ; Thibaut, Florence ; Torretta, Silvia ; Vaaler, Arne ; van Amelsvoort, Therese ; Waterreus, Anna ; Wu, Jing Qin ; Zai, Clement C ; Zimprich, Fritz ; Cloninger, C Robert ; Petryshen, Tracey L ; Pulver, Ann E ; Schulze, Thomas G ; Wang, Shi-Heng ; Xu, Shuhua ; Arango, Celso ; Corvin, Aiden ; Gawlik, Micha ; Gejman, Pablo V ; Khusnutdinova, Elza ; Li, Qingqin S ; Liu, Jianjun ; Malhotra, Anil K ; McQuillin, Andrew ; Riley, Brien P ; Stefansson, Kari ; van Os, Jim ; Weinberger, Daniel R ; Wildenauer, Dieter B ; Yue, Weihua ; Holmans, Peter A ; Yang, Jian ; Wray, Naomi R ; Neale, Benjamin M ; Ripke, StephanNature (London), 2022-04, Vol.604 (7906), p.502-508 [Periódico revisado por pares]England: Nature Publishing GroupTexto completo disponível |
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Material Type: Artigo
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Long-read human genome sequencing and its applicationsLogsdon, Glennis A ; Vollger, Mitchell R ; Eichler, Evan ENature reviews. Genetics, 2020-10, Vol.21 (10), p.597-614 [Periódico revisado por pares]England: Nature Publishing GroupTexto completo disponível |
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Material Type: Artigo
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The genetics of alcohol dependence and alcohol-related liver diseaseStickel, Felix ; Moreno, Christophe ; Hampe, Jochen ; Morgan, Marsha YJournal of hepatology, 2017-01, Vol.66 (1), p.195-211 [Periódico revisado por pares]Netherlands: Elsevier B.VTexto completo disponível |
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Material Type: Artigo
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VTRNA2-1 : Genetic Variation, Heritable Methylation and Disease AssociationDugué, Pierre-Antoine ; Yu, Chenglong ; McKay, Timothy ; Wong, Ee Ming ; Joo, Jihoon Eric ; Tsimiklis, Helen ; Hammet, Fleur ; Mahmoodi, Maryam ; Theys, Derrick ; kConFab ; Hopper, John L ; Giles, Graham G ; Milne, Roger L ; Steen, Jason A ; Dowty, James G ; Nguyen-Dumont, Tu ; Southey, Melissa CInternational journal of molecular sciences, 2021-03, Vol.22 (5), p.2535 [Periódico revisado por pares]Switzerland: MDPI AGTexto completo disponível |
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Material Type: Artigo
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Genetic variance estimation with imputed variants finds negligible missing heritability for human height and body mass indexYang, Jian ; Bakshi, Andrew ; Zhu, Zhihong ; Hemani, Gibran ; Vinkhuyzen, Anna A E ; Lee, Sang Hong ; Robinson, Matthew R ; Perry, John R B ; Nolte, Ilja M ; van Vliet-Ostaptchouk, Jana V ; Snieder, Harold ; Esko, Tonu ; Milani, Lili ; Mägi, Reedik ; Metspalu, Andres ; Hamsten, Anders ; Magnusson, Patrik K E ; Pedersen, Nancy L ; Ingelsson, Erik ; Soranzo, Nicole ; Keller, Matthew C ; Wray, Naomi R ; Goddard, Michael E ; Visscher, Peter MNature genetics, 2015-10, Vol.47 (10), p.1114-1120 [Periódico revisado por pares]United States: Nature Publishing GroupTexto completo disponível |
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Material Type: Artigo
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Identification of novel risk loci, causal insights, and heritable risk for Parkinson's disease: a meta-analysis of genome-wide association studiesVallerga, Costanza L ; Tan, Manuela ; Kia, Demis A ; Xue, Angli ; Young, Emily ; Sharma, Manu ; Krohn, Lynne ; Siitonen, Ari ; Iwaki, Hirotaka ; Leonard, Hampton ; Botia, Juan A ; Martinez, Maria ; Jankovic, Joseph ; Sutherland, Margaret ; Majamaa, Kari ; Andreassen, Ole A ; Gan-Or, Ziv ; Gasser, Thomas ; Heutink, Peter ; Gratten, Jacob ; Alvarez, Ignacio ; Alvarez, Victoria ; Bandres-Ciga, Sara ; Bergareche Yarza, Jesús Alberto ; Billingsley, Kimberley ; Bonilla-Toribio, Marta ; Botía, Juan A ; Boungiorno, María Teresa ; Bras, Jose ; Bubb, Vivien ; Buiza-Rueda, Dolores ; Cerdan, Debora ; Chelban, Viorica ; Corvol, Jean-Christophe ; Craig, David W ; Danjou, Fabrice ; Diez-Fairen, Monica ; Escott-Price, Valentina ; Ezquerra, Mario ; Fernández, Manel ; Fernández-Santiago, Rubén ; Gan-Or, Ziv ; Garcia, Ciara ; García-Ruiz, Pedro ; Hernandez, Dena G ; Hoenicka, Janet ; Infante, Jon ; Jesús, Silvia ; Kaiyrzhanov, Rauan ; Kia, Demis A ; Leonard, Hampton L ; Lewis, Patrick ; Lopez-Sendon, Jose Luis ; Lovering, Ruth ; Lubbe, Steven ; Majamaa, Kari ; Manzoni, Claudia ; Marti, Maria Jose ; Méndez-del-Barrio, Carlota ; Middlehurst, Ben ; Mínguez, Adolfo ; Muñoz, Esteban ; Pagola, Ana Gorostidi ; Pastor, Pau ; Perez Errazquin, Francisco ; Periñán-Tocino, Teresa ; Reed, Xylena ; Rezola, Elisabet Mondragon ; Rodriguez, Antonio Sanchez ; Ruiz-Martínez, Javier ; Sadykova, Dinara ; Shashkin, Chingiz ; Sierra, María ; Simón-Sánchez, Javier ; Singleton, Andrew B ; Suarez-Sanmartin, Esther ; Tabernero, Cesar ; Tolosa, Eduard ; van Hilten, Jacobus J ; Vargas-González, Laura ; Wood, Nicholas W ; Zimprich, Alexander ; Reich, Stephen ; Savitt, Joseph ; Bryc, Katarzyna ; Hicks, Barry ; Jiang, Yunxuan ; McCreight, Jennifer C. ; McIntyre, Matthew H. ; Noblin, Elizabeth S. ; Sathirapongsasuti, J. Fah ; Tung, Joyce ; Anderson, Tim ; Bentley, Steven ; Kennedy, Martin ; Mellick, George ; Sidorenko, Julia ; Silburn, Peter A. ; Visscher, Peter M. ; Yang, JianLancet neurology, 2019-12, Vol.18 (12), p.1091-1102 [Periódico revisado por pares]England: Elsevier LtdTexto completo disponível |
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Material Type: Artigo
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Decoding ‘Unnecessary Complexity’: A Law of Complexity and a Concept of Hidden Variation Behind “Missing Heritability” in Precision MedicineSingh, Rama S.Journal of molecular evolution, 2021-10, Vol.89 (8), p.513-526 [Periódico revisado por pares]New York: Springer USTexto completo disponível |