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Integration of geno...
Integration of genome-wide association studies with biological knowledge identifies six novel genes related to kidney function
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Chasman, Daniel I. (author)
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Fuchsberger, Christian (author)
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Pattaro, Cristian (author)
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show more...
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Teumer, Alexander (author)
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Boeger, Carsten A. (author)
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Endlich, Karlhans (author)
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Olden, Matthias (author)
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Chen, Ming-Huei (author)
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Tin, Adrienne (author)
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Taliun, Daniel (author)
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Li, Man (author)
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Gao, Xiaoyi (author)
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Gorski, Mathias (author)
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Yang, Qiong (author)
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Hundertmark, Claudia (author)
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Foster, Meredith C. (author)
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O'Seaghdha, Conall M. (author)
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Glazer, Nicole (author)
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Isaacs, Aaron (author)
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Liu, Ching-Ti (author)
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Smith, Albert V. (author)
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O'Connell, Jeffrey R. (author)
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Struchalin, Maksim (author)
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Tanaka, Toshiko (author)
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Li, Guo (author)
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Johnson, Andrew D. (author)
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Gierman, Hinco J. (author)
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Feitosa, Mary F. (author)
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Hwang, Shih-Jen (author)
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Atkinson, Elizabeth J. (author)
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Lohman, Kurt (author)
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Cornelis, Marilyn C. (author)
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- Johansson, Åsa (author)
- Uppsala universitet,Uppsala kliniska forskningscentrum (UCR),Genomik
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Toenjes, Anke (author)
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Dehghan, Abbas (author)
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Lambert, Jean-Charles (author)
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Holliday, Elizabeth G. (author)
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Sorice, Rossella (author)
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Kutalik, Zoltan (author)
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Lehtimaeki, Terho (author)
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Esko, Tonu (author)
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Deshmukh, Harshal (author)
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Ulivi, Sheila (author)
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Chu, Audrey Y. (author)
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Murgia, Federico (author)
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Trompet, Stella (author)
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Imboden, Medea (author)
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Coassin, Stefan (author)
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Pistis, Giorgio (author)
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Harris, Tamara B. (author)
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Launer, Lenore J. (author)
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Aspelund, Thor (author)
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Eiriksdottir, Gudny (author)
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Mitchell, Braxton D. (author)
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Boerwinkle, Eric (author)
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Schmidt, Helena (author)
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Cavalieri, Margherita (author)
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Rao, Madhumathi (author)
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Hu, Frank (author)
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Demirkan, Ayse (author)
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Oostra, Ben A. (author)
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de Andrade, Mariza (author)
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Turner, Stephen T. (author)
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Ding, Jingzhong (author)
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Andrews, Jeanette S. (author)
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Freedman, Barry I. (author)
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Giulianini, Franco (author)
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Koenig, Wolfgang (author)
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Illig, Thomas (author)
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Meisinger, Christa (author)
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Gieger, Christian (author)
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Zgaga, Lina (author)
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Zemunik, Tatijana (author)
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Boban, Mladen (author)
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Minelli, Cosetta (author)
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Wheeler, Heather E. (author)
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- Igl, Wilmar (author)
- Uppsala universitet,Uppsala kliniska forskningscentrum (UCR)
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- Zaboli, Ghazal (author)
- Uppsala universitet,Uppsala kliniska forskningscentrum (UCR)
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Wild, Sarah H. (author)
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Wright, Alan F. (author)
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Campbell, Harry (author)
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Ellinghaus, David (author)
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Noethlings, Ute (author)
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Jacobs, Gunnar (author)
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Biffar, Reiner (author)
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Ernst, Florian (author)
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Homuth, Georg (author)
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Kroemer, Heyo K. (author)
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Nauck, Matthias (author)
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Stracke, Sylvia (author)
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Voelker, Uwe (author)
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Voelzke, Henry (author)
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Kovacs, Peter (author)
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Stumvoll, Michael (author)
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Maegi, Reedik (author)
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Hofman, Albert (author)
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Uitterlinden, Andre G. (author)
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Rivadeneira, Fernando (author)
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Aulchenko, Yurii S. (author)
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Polasek, Ozren (author)
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Hastie, Nick (author)
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Vitart, Veronique (author)
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Helmer, Catherine (author)
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Wang, Jie Jin (author)
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Stengel, Benedicte (author)
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Ruggiero, Daniela (author)
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Bergmann, Sven (author)
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Kahonen, Mika (author)
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Viikari, Jorma (author)
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Nikopensius, Tiit (author)
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Province, Michael (author)
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Ketkar, Shamika (author)
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Colhoun, Helen (author)
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Doney, Alex (author)
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Robino, Antonietta (author)
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Kraemer, Bernhard K. (author)
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Portas, Laura (author)
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Ford, Ian (author)
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Buckley, Brendan M. (author)
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Adam, Martin (author)
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Thun, Gian-Andri (author)
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Paulweber, Bernhard (author)
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Haun, Margot (author)
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Sala, Cinzia (author)
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Mitchell, Paul (author)
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Ciullo, Marina (author)
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Kim, Stuart K. (author)
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Vollenweider, Peter (author)
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Raitakari, Olli (author)
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Metspalu, Andres (author)
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Palmer, Colin (author)
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Gasparini, Paolo (author)
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Pirastu, Mario (author)
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Jukema, J. Wouter (author)
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Probst-Hensch, Nicole M. (author)
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Kronenberg, Florian (author)
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Toniolo, Daniela (author)
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Gudnason, Vilmundur (author)
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Shuldiner, Alan R. (author)
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Coresh, Josef (author)
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Schmidt, Reinhold (author)
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Ferrucci, Luigi (author)
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Siscovick, David S. (author)
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van Duijn, Cornelia M. (author)
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Borecki, Ingrid B. (author)
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Kardia, Sharon L. R. (author)
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Liu, Yongmei (author)
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Curhan, Gary C. (author)
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Rudan, Igor (author)
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- Gyllensten, Ulf (author)
- Uppsala universitet,Genomik
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Wilson, James F. (author)
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Franke, Andre (author)
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Pramstaller, Peter P. (author)
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Rettig, Rainer (author)
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Prokopenko, Inga (author)
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Witteman, Jacqueline (author)
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Hayward, Caroline (author)
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Ridker, Paul M. (author)
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Parsa, Afshin (author)
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Bochud, Murielle (author)
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Heid, Iris M. (author)
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Kao, W. H. Linda (author)
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Fox, Caroline S. (author)
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Koettgen, Anna (author)
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(creator_code:org_t)
- 2012-09-08
- 2012
- English.
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In: Human Molecular Genetics. - : Oxford University Press (OUP). - 0964-6906 .- 1460-2083. ; 21:24, s. 5329-5343
- Related links:
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https://europepmc.or...
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https://urn.kb.se/re...
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https://doi.org/10.1...
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Abstract
Subject headings
Close
- In conducting genome-wide association studies (GWAS), analytical approaches leveraging biological information may further understanding of the pathophysiology of clinical traits. To discover novel associations with estimated glomerular filtration rate (eGFR), a measure of kidney function, we developed a strategy for integrating prior biological knowledge into the existing GWAS data for eGFR from the CKDGen Consortium. Our strategy focuses on single nucleotide polymorphism (SNPs) in genes that are connected by functional evidence, determined by literature mining and gene ontology (GO) hierarchies, to genes near previously validated eGFR associations. It then requires association thresholds consistent with multiple testing, and finally evaluates novel candidates by independent replication. Among the samples of European ancestry, we identified a genome-wide significant SNP in FBXL20 (P 5.6 10(9)) in meta-analysis of all available data, and additional SNPs at the INHBC, LRP2, PLEKHA1, SLC3A2 and SLC7A6 genes meeting multiple-testing corrected significance for replication and overall P-values of 4.5 10(4)2.2 10(7). Neither the novel PLEKHA1 nor FBXL20 associations, both further supported by association with eGFR among African Americans and with transcript abundance, would have been implicated by eGFR candidate gene approaches. LRP2, encoding the megalin receptor, was identified through connection with the previously known eGFR gene DAB2 and extends understanding of the megalin system in kidney function. These findings highlight integration of existing genome-wide association data with independent biological knowledge to uncover novel candidate eGFR associations, including candidates lacking known connections to kidney-specific pathways. The strategy may also be applicable to other clinical phenotypes, although more testing will be needed to assess its potential for discovery in general.
Publication and Content Type
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- art (subject category)
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Chasman, Daniel ...
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Fuchsberger, Chr ...
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Pattaro, Cristia ...
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Teumer, Alexande ...
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Boeger, Carsten ...
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Endlich, Karlhan ...
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show more...
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Olden, Matthias
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Chen, Ming-Huei
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Tin, Adrienne
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Taliun, Daniel
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Li, Man
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Gao, Xiaoyi
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Gorski, Mathias
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Yang, Qiong
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Hundertmark, Cla ...
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Foster, Meredith ...
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O'Seaghdha, Cona ...
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Glazer, Nicole
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Isaacs, Aaron
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Liu, Ching-Ti
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Smith, Albert V.
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O'Connell, Jeffr ...
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Struchalin, Maks ...
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Tanaka, Toshiko
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Li, Guo
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Johnson, Andrew ...
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Gierman, Hinco J ...
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Feitosa, Mary F.
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Hwang, Shih-Jen
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Atkinson, Elizab ...
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Lohman, Kurt
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Cornelis, Marily ...
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Johansson, Åsa
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Toenjes, Anke
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Dehghan, Abbas
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Lambert, Jean-Ch ...
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Holliday, Elizab ...
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Sorice, Rossella
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Kutalik, Zoltan
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Lehtimaeki, Terh ...
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Esko, Tonu
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Deshmukh, Harsha ...
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Ulivi, Sheila
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Chu, Audrey Y.
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Murgia, Federico
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Trompet, Stella
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Imboden, Medea
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Coassin, Stefan
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Pistis, Giorgio
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Harris, Tamara B ...
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Launer, Lenore J ...
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Aspelund, Thor
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Eiriksdottir, Gu ...
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Mitchell, Braxto ...
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Boerwinkle, Eric
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Schmidt, Helena
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Cavalieri, Margh ...
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Rao, Madhumathi
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Hu, Frank
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Demirkan, Ayse
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Oostra, Ben A.
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de Andrade, Mari ...
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Turner, Stephen ...
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Ding, Jingzhong
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Andrews, Jeanett ...
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Freedman, Barry ...
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Giulianini, Fran ...
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Koenig, Wolfgang
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Illig, Thomas
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Meisinger, Chris ...
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Gieger, Christia ...
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Zgaga, Lina
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Zemunik, Tatijan ...
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Boban, Mladen
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Minelli, Cosetta
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Wheeler, Heather ...
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Igl, Wilmar
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Zaboli, Ghazal
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Wild, Sarah H.
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Wright, Alan F.
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Campbell, Harry
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Ellinghaus, Davi ...
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Noethlings, Ute
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Jacobs, Gunnar
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Biffar, Reiner
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Ernst, Florian
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Homuth, Georg
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Kroemer, Heyo K.
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Nauck, Matthias
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Stracke, Sylvia
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Voelker, Uwe
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Voelzke, Henry
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Kovacs, Peter
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Stumvoll, Michae ...
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Maegi, Reedik
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Hofman, Albert
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Uitterlinden, An ...
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Rivadeneira, Fer ...
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Aulchenko, Yurii ...
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Polasek, Ozren
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Hastie, Nick
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Vitart, Veroniqu ...
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Helmer, Catherin ...
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Wang, Jie Jin
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Stengel, Benedic ...
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Ruggiero, Daniel ...
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Bergmann, Sven
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Kahonen, Mika
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Viikari, Jorma
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Nikopensius, Tii ...
-
Province, Michae ...
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Ketkar, Shamika
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Colhoun, Helen
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Doney, Alex
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Robino, Antoniet ...
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Kraemer, Bernhar ...
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Portas, Laura
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Ford, Ian
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Buckley, Brendan ...
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Adam, Martin
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Thun, Gian-Andri
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Paulweber, Bernh ...
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Haun, Margot
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Sala, Cinzia
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Mitchell, Paul
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Ciullo, Marina
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Kim, Stuart K.
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Vollenweider, Pe ...
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Raitakari, Olli
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Metspalu, Andres
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Palmer, Colin
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Gasparini, Paolo
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Pirastu, Mario
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Jukema, J. Woute ...
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Probst-Hensch, N ...
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Kronenberg, Flor ...
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Toniolo, Daniela
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Gudnason, Vilmun ...
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Shuldiner, Alan ...
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Coresh, Josef
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Schmidt, Reinhol ...
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Ferrucci, Luigi
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Siscovick, David ...
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van Duijn, Corne ...
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Borecki, Ingrid ...
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Kardia, Sharon L ...
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Liu, Yongmei
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Curhan, Gary C.
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Rudan, Igor
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Gyllensten, Ulf
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Wilson, James F.
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Franke, Andre
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Pramstaller, Pet ...
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Rettig, Rainer
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Prokopenko, Inga
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Witteman, Jacque ...
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Hayward, Carolin ...
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Ridker, Paul M.
-
Parsa, Afshin
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Bochud, Murielle
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Heid, Iris M.
-
Kao, W. H. Linda
-
Fox, Caroline S.
-
Koettgen, Anna
-
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Human Molecular ...
- By the university
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Uppsala University