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A protein-truncatin...
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Rivas, Manuel A.Broad Institute, Massachusetts Institute of Technology, Cambridge MA, USA; Broad Institute, Harvard University, Cambridge MA, USA; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Harvard Medical School, Boston, USA
(författare)
A protein-truncating R179X variant in RNF186 confers protection against ulcerative colitis
- Artikel/kapitelEngelska2016
Förlag, utgivningsår, omfång ...
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2016-08-09
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London, United Kingdom :Nature Publishing Group,2016
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printrdacarrier
Nummerbeteckningar
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LIBRIS-ID:oai:DiVA.org:oru-51667
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https://urn.kb.se/resolve?urn=urn:nbn:se:oru:diva-51667URI
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https://doi.org/10.1038/ncomms12342DOI
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http://kipublications.ki.se/Default.aspx?queryparsed=id:134031768URI
Kompletterande språkuppgifter
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Språk:engelska
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Sammanfattning på:engelska
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Klassifikation
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Ämneskategori:ref swepub-contenttype
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Ämneskategori:art swepub-publicationtype
Anmärkningar
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Funding Agencies:National Institute of Diabetes and Digestive and Kidney Disease (NIDDK) DK064869 DK062432National Human Genome Research Institute (NHGRI) DK064869 DK043351 HG005923Crohns and Colitis Foundation 3765Leona M. & Harry B. Helmsley Charitable Trust 2015PG-IBD001Amgen 2013583217CCFA 3765Cedars-Sinai F. Widjaja FoundationEuropean Union DK062413 AI067068 U54DE023789-01 305479Leona M. and Harry B. Helmsley Charitable TrustCrohn's and Colitis Foundation of AmericaNIH DK062431 U01 DK062429 U01 DK062422 R01 DK092235 U01 DK062420Medical Research Council, UK MR/J00314X/1Wellcome Trust WT091310 098051Inflammatory Bowel Disease Genetic Research Chair at the University of Pittsburgh PO1DK046763
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Protein-truncating variants protective against human disease provide in vivo validation of therapeutic targets. Here we used targeted sequencing to conduct a search for protein-truncating variants conferring protection against inflammatory bowel disease exploiting knowledge of common variants associated with the same disease. Through replication genotyping and imputation we found that a predicted protein-truncating variant (rs36095412, p.R179X, genotyped in 11,148 ulcerative colitis patients and 295,446 controls, MAF=up to 0.78%) in RNF186, a single-exon ring finger E3 ligase with strong colonic expression, protects against ulcerative colitis (overall P=6.89 × 10(-7), odds ratio=0.30). We further demonstrate that the truncated protein exhibits reduced expression and altered subcellular localization, suggesting the protective mechanism may reside in the loss of an interaction or function via mislocalization and/or loss of an essential transmembrane domain.
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Biuppslag (personer, institutioner, konferenser, titlar ...)
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Graham, DanielBroad Institute, Massachusetts Institute of Technology, Cambridge MA, USA; Broad Institute, Harvard University, Cambridge MA, USA;
(författare)
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Sulem, PatrickdeCODE Genetics, Amgen Inc., Reykjavik, Iceland
(författare)
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Stevens, ChristineBroad Institute, Massachusetts Institute of Technology, Cambridge MA, USA; Broad Institute, Harvard University, Cambridge MA, USA;
(författare)
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Desch, A. NicoleBroad Institute, Massachusetts Institute of Technology, Cambridge MA, USA; Broad Institute, Harvard University, Cambridge MA, USA;
(författare)
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Goyette, PhilippeResearch Center, Montreal Heart Institute, Montréal, Québec, Canada
(författare)
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Gudbjartsson, DanieldeCODE Genetics, Amgen Inc., Reykjavik, Iceland; School of Engineering and Natural Sciences, University of Iceland, Reykjavik, Iceland
(författare)
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Jonsdottir, IngileifdeCODE Genetics, Amgen Inc., Reykjavik, Iceland; Department of Immunology, Landspitali, the National University Hospital of Iceland, Reykjavik, Iceland; Faculty of Medicine, University of Iceland, Reykjavik, Iceland
(författare)
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Thorsteinsdottir, UnnurdeCODE Genetics, Amgen Inc., Reykjavik, Iceland; Faculty of Medicine, University of Iceland, Reykjavik, Iceland
(författare)
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Degenhardt, FraukeInstitute of Clinical Molecular Biology, Christian-Albrechts-University, Kiel, Germany
(författare)
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Mucha, SörenInstitute of Clinical Molecular Biology, Christian-Albrechts-University, Kiel, Germany
(författare)
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Kurki, Mitja I.Broad Institute, Massachusetts Institute of Technology, Cambridge MA, USA; Broad Institute, Harvard University, Cambridge MA, USA; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Harvard Medical School, Boston, USA
(författare)
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Li, DalinF. Widjaja Foundation Inflammatory Bowel and Immunobiology Research Institute, Cedars-Sinai Medical Center, Los Angeles, USA; Inflammatory Bowel Disease Center, Cedars-Sinai Medical Center, Los Angeles, USA
(författare)
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D'Amato, MauroKarolinska Institutet
(författare)
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Annese, VitoUnit of Gastroenterology, Istituto di Ricovero e Cura a Carattere Scientifico-Casa Sollievo della Sofferenza (IRCCS-CSS) Hospital, San Giovanni Rotondo, Italy
(författare)
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Vermeire, SeverineDepartment of Clinical and Experimental Medicine, Translational Research in GastroIntestinal Disorders (TARGID), Katholieke Universiteit (KU) Leuven, Leuven, Belgium; Division of Gastroenterology, University Hospital Gasthuisberg, Leuven, Belgium
(författare)
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Weersma, Rinse K.Department of Gastroenterology and Hepatology, University Medical Center Groningen, Groningen, The Netherlands; Department of Gastroenterology and Hepatology, University of Groningen, Groningen, The Netherlands
(författare)
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Halfvarson, Jonas,1970-Örebro universitet,Institutionen för medicinska vetenskaper,Department of Gastroenterology, Örebro University Hospital, Örebro, Sweden(Swepub:oru)jshn
(författare)
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Paavola-Sakki, PaulinaDepartment of Medicine, University of Helsinki, Helsinki, Finland; Helsinki University Hospital, Helsinki, Finland; Clinic of Gastroenterology, Helsinki University Hospital, Helsinki, Finland
(författare)
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Lappalainen, MaaritDepartment of Medicine, University of Helsinki, Helsinki, Finland; Helsinki University Hospital, Helsinki, Finland; Research Programs Unit, Department of Medical and Clinical Genetics, University of Helsinki, Helsinki, Finland; Research Programs Unit, Immunobiology, University of Helsinki, Helsinki, Finland;
(författare)
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Lek, MonkolBroad Institute, Massachusetts Institute of Technology, Cambridge MA, USA; Broad Institute, Harvard University, Cambridge MA, USA; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Harvard Medical School, Boston, USA
(författare)
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Cummings, BerylBroad Institute, Massachusetts Institute of Technology, Cambridge MA, USA; Broad Institute, Harvard University, Cambridge MA, USA; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Harvard Medical School, Boston, USA
(författare)
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Tukiainen, TaruBroad Institute, Massachusetts Institute of Technology, Cambridge MA, USA; Broad Institute, Harvard University, Cambridge MA, USA; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Harvard Medical School, Boston, USA
(författare)
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Haritunians, TalinF. Widjaja Foundation Inflammatory Bowel and Immunobiology Research Institute, Cedars-Sinai Medical Center, Los Angeles, USA; Inflammatory Bowel Disease Center, Cedars-Sinai Medical Center, Los Angeles, USA
(författare)
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Halme, LeenaDepartment of Transplantation and Liver Surgery, University of Helsinki, Helsinki, Finland
(författare)
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Koskinen, Lotta L. E.Research Programs Unit, Immunobiology, and Department of Medical and Clinical Genetics, University of Helsinki, Helsinki, Finland; Department of Medical Genetics, Biomedicum Helsinki, University of Helsinki, Helsinki, Finland
(författare)
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Ananthakrishnan, Ashwin N.Gastroenterology Unit, Massachusetts General Hospital, Harvard Medical School, Boston, USA; Division of Medical Sciences, Harvard Medical School, Boston, USA
(författare)
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Luo, YangWellcome Trust Genome Campus, Wellcome Trust Sanger Institute, Hinxton, UK
(författare)
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Heap, Graham A.IBD Pharmacogenetics, Royal Devon and Exeter NHS Trust, Exeter, UK
(författare)
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Visschedijk, Marijn C.Department of Gastroenterology and Hepatology, University of Groningen, Groningen, The Netherlands; Department of Gastroenterology and Hepatology, University Medical Center Groningen, Groningen, The Netherlands
(författare)
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MacArthur, Daniel G.Broad Institute, Massachusetts Institute of Technology, Cambridge MA, USA; Broad Institute, Harvard University, Cambridge MA, USA; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Harvard Medical School, Boston, USA
(författare)
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Neale, Benjamin M.Broad Institute, Massachusetts Institute of Technology, Cambridge MA, USA; Broad Institute, Harvard University, Cambridge MA, USA; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Harvard Medical School, Boston, USA
(författare)
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Ahmad, TariqPeninsula College of Medicine and Dentistry, Exeter, UK
(författare)
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Anderson, Carl A.Wellcome Trust Genome Campus, Wellcome Trust Sanger Institute, Hinxton, UK
(författare)
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Brant, Steven R.Meyerhoff Inflammatory Bowel Disease Center, Department of Medicine, School of Medicine, Johns Hopkins University, Baltimore, USA; Department of Epidemiology, Bloomberg School of Public Health, Johns Hopkins University, Baltimore, USA
(författare)
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Duerr, Richard H.Division of Gastroenterology, Hepatology and Nutrition, Department of Medicine, School of Medicine, University of Pittsburgh, Pittsburgh,USA; Department of Human Genetics, University of Pittsburgh Graduate School of Public Health, Pittsburgh, USA
(författare)
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Silverberg, Mark S.Department of Medicine, Inflammatory Bowel Disease Centre, Mount Sinai Hospital, Toronto, Canada
(författare)
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Cho, Judy H.Department of Genetics, Yale School of Medicine, New Haven, USA
(författare)
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Palotie, AarnoBroad Institute, Massachusetts Institute of Technology, Cambridge MA, USA; Broad Institute, Harvard University, Cambridge MA, USA; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Harvard Medical School, Boston MA, USA; Institute for Molecular Medicine Finland, University of Helsinki, Helsinki, Finland; Center for Human Genetic Research, Psychiatric and Neurodevelopmental Genetics Unit, Massachusetts General Hospital, Boston MA, USA
(författare)
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Saavalainen, PäiviResearch Programs Unit, Immunobiology, University of Helsinki, Helsinki, Finland
(författare)
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Kontula, KimmoDepartment of Medicine, University of Helsinki, Helsinki, Finland; Helsinki University Hospital, Helsinki, Finland
(författare)
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Färkkilä, MarttiDepartment of Medicine, University of Helsinki, Helsinki, Finland; Helsinki University Hospital, Helsinki, Finland; Clinic of Gastroenterology, Helsinki University Hospital, Helsinki, Finland
(författare)
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McGovern, Dermot P. B.F. Widjaja Foundation Inflammatory Bowel and Immunobiology Research Institute, Cedars-Sinai Medical Center, Los Angeles, USA; Inflammatory Bowel Disease Center, Cedars-Sinai Medical Center, Los Angeles, USA
(författare)
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Franke, AndreInstitute of Clinical Molecular Biology, Christian-Albrechts-University, Kiel, Germany
(författare)
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Stefansson, KarideCODE Genetics, Amgen Inc., Reykjavik, Iceland; Faculty of Medicine, University of Iceland, Reykjavik, Iceland
(författare)
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Rioux, John D.Research Center, Montreal Heart Institute, Montréal, Canada; Faculté de Médecine, Université de Montréal, Montréal, Canada
(författare)
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Xavier, Ramnik J.Broad Institute, Massachusetts Institute of Technology, Cambridge MA, USA; Broad Institute, Harvard University, Cambridge MA, USA; Gastroenterology Unit, Massachusetts General Hospital, Harvard Medical School, Boston, USA
(författare)
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Daly, Mark J.Broad Institute, Massachusetts Institute of Technology, Cambridge MA, USA; Broad Institute, Harvard University, Cambridge MA, USA; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Harvard Medical School, Boston, USA
(författare)
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Barrett, J.IBD Pharmacogenetics, Royal Devon and Exeter NHS Trust, Exeter, UK
(författare)
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de Lane, K.IBD Pharmacogenetics, Royal Devon and Exeter NHS Trust, Exeter, UK
(författare)
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Wang, M. H.Division of Gastroenterology, Hepatology and Nutrition, Department of Medicine, School of Medicine, University of Pittsburgh, Pittsburgh, USA
(författare)
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Broad Institute, Massachusetts Institute of Technology, Cambridge MA, USA; Broad Institute, Harvard University, Cambridge MA, USA; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Harvard Medical School, Boston, USABroad Institute, Massachusetts Institute of Technology, Cambridge MA, USA; Broad Institute, Harvard University, Cambridge MA, USA;
(creator_code:org_t)
Sammanhörande titlar
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Ingår i:Nature CommunicationsLondon, United Kingdom : Nature Publishing Group72041-1723
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Till lärosätets databas
- Av författaren/redakt...
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Rivas, Manuel A.
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Graham, Daniel
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Sulem, Patrick
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Stevens, Christi ...
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Desch, A. Nicole
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Goyette, Philipp ...
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visa fler...
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Gudbjartsson, Da ...
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Jonsdottir, Ingi ...
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Thorsteinsdottir ...
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Degenhardt, Frau ...
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Mucha, Sören
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Kurki, Mitja I.
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Li, Dalin
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D'Amato, Mauro
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Annese, Vito
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Vermeire, Severi ...
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Weersma, Rinse K ...
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Halfvarson, Jona ...
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Paavola-Sakki, P ...
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Lappalainen, Maa ...
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Lek, Monkol
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Cummings, Beryl
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Tukiainen, Taru
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Haritunians, Tal ...
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Halme, Leena
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Koskinen, Lotta ...
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Ananthakrishnan, ...
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Luo, Yang
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Heap, Graham A.
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Visschedijk, Mar ...
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MacArthur, Danie ...
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Neale, Benjamin ...
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Ahmad, Tariq
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Anderson, Carl A ...
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Brant, Steven R.
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Duerr, Richard H ...
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Silverberg, Mark ...
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Cho, Judy H.
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Palotie, Aarno
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Saavalainen, Päi ...
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Kontula, Kimmo
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Färkkilä, Martti
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McGovern, Dermot ...
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Franke, Andre
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Stefansson, Kari
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Rioux, John D.
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Xavier, Ramnik J ...
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Daly, Mark J.
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Barrett, J.
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de Lane, K.
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Wang, M. H.
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