Andrew J P Smith

Andrew J P Smith

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Andrew J P Smith

Andrew J P Smith

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Emerging applications of genome-editing technology to examine functionality of GWAS-associated variants for complex traits.

Physiol Genomics 2018 07 13;50(7):510-522. Epub 2018 Apr 13.

Clinical Pharmacology, William Harvey Research Institute, Barts and The London, Queen Mary University of London , United Kingdom.

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https://www.physiology.org/doi/10.1152/physiolgenomics.00028
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http://dx.doi.org/10.1152/physiolgenomics.00028.2018DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6087882PMC
July 2018

The genetics of blood pressure regulation and its target organs from association studies in 342,415 individuals.

Authors:
Georg B Ehret Teresa Ferreira Daniel I Chasman Anne U Jackson Ellen M Schmidt Toby Johnson Gudmar Thorleifsson Jian'an Luan Lousie A Donnelly Stavroula Kanoni Ann-Kristin Petersen Vasyl Pihur Rona J Strawbridge Dmitry Shungin Maria F Hughes Osorio Meirelles Marika Kaakinen Nabila Bouatia-Naji Kati Kristiansson Sonia Shah Marcus E Kleber Xiuqing Guo Leo-Pekka Lyytikäinen Cristiano Fava Niclas Eriksson Ilja M Nolte Patrik K Magnusson Elias L Salfati Loukianos S Rallidis Elizabeth Theusch Andrew J P Smith Lasse Folkersen Kate Witkowska Tune H Pers Roby Joehanes Stuart K Kim Lazaros Lataniotis Rick Jansen Andrew D Johnson Helen Warren Young Jin Kim Wei Zhao Ying Wu Bamidele O Tayo Murielle Bochud Devin Absher Linda S Adair Najaf Amin Dan E Arking Tomas Axelsson Damiano Baldassarre Beverley Balkau Stefania Bandinelli Michael R Barnes Inês Barroso Stephen Bevan Joshua C Bis Gyda Bjornsdottir Michael Boehnke Eric Boerwinkle Lori L Bonnycastle Dorret I Boomsma Stefan R Bornstein Morris J Brown Michel Burnier Claudia P Cabrera John C Chambers I-Shou Chang Ching-Yu Cheng Peter S Chines Ren-Hua Chung Francis S Collins John M Connell Angela Döring Jean Dallongeville John Danesh Ulf de Faire Graciela Delgado Anna F Dominiczak Alex S F Doney Fotios Drenos Sarah Edkins John D Eicher Roberto Elosua Stefan Enroth Jeanette Erdmann Per Eriksson Tonu Esko Evangelos Evangelou Alun Evans Tove Fall Martin Farrall Janine F Felix Jean Ferrières Luigi Ferrucci Myriam Fornage Terrence Forrester Nora Franceschini Oscar H Franco Duran Anders Franco-Cereceda Ross M Fraser Santhi K Ganesh He Gao Karl Gertow Francesco Gianfagna Bruna Gigante Franco Giulianini Anuj Goel Alison H Goodall Mark O Goodarzi Mathias Gorski Jürgen Gräßler Christopher Groves Vilmundur Gudnason Ulf Gyllensten Göran Hallmans Anna-Liisa Hartikainen Maija Hassinen Aki S Havulinna Caroline Hayward Serge Hercberg Karl-Heinz Herzig Andrew A Hicks Aroon D Hingorani Joel N Hirschhorn Albert Hofman Jostein Holmen Oddgeir Lingaas Holmen Jouke-Jan Hottenga Phil Howard Chao A Hsiung Steven C Hunt M Arfan Ikram Thomas Illig Carlos Iribarren Richard A Jensen Mika Kähönen Hyun Kang Sekar Kathiresan Brendan J Keating Kay-Tee Khaw Yun Kyoung Kim Eric Kim Mika Kivimaki Norman Klopp Genovefa Kolovou Pirjo Komulainen Jaspal S Kooner Gulum Kosova Ronald M Krauss Diana Kuh Zoltan Kutalik Johanna Kuusisto Kirsti Kvaløy Timo A Lakka Nanette R Lee I-Te Lee Wen-Jane Lee Daniel Levy Xiaohui Li Kae-Woei Liang Honghuang Lin Li Lin Jaana Lindström Stéphane Lobbens Satu Männistö Gabriele Müller Martina Müller-Nurasyid François Mach Hugh S Markus Eirini Marouli Mark I McCarthy Colin A McKenzie Pierre Meneton Cristina Menni Andres Metspalu Vladan Mijatovic Leena Moilanen May E Montasser Andrew D Morris Alanna C Morrison Antonella Mulas Ramaiah Nagaraja Narisu Narisu Kjell Nikus Christopher J O'Donnell Paul F O'Reilly Ken K Ong Fred Paccaud Cameron D Palmer Afshin Parsa Nancy L Pedersen Brenda W Penninx Markus Perola Annette Peters Neil Poulter Peter P Pramstaller Bruce M Psaty Thomas Quertermous Dabeeru C Rao Asif Rasheed N William N W R Rayner Frida Renström Rainer Rettig Kenneth M Rice Robert Roberts Lynda M Rose Jacques Rossouw Nilesh J Samani Serena Sanna Jouko Saramies Heribert Schunkert Sylvain Sebert Wayne H-H Sheu Young-Ah Shin Xueling Sim Johannes H Smit Albert V Smith Maria X Sosa Tim D Spector Alena Stančáková Alice Stanton Kathleen E Stirrups Heather M Stringham Johan Sundstrom Amy J Swift Ann-Christine Syvänen E-Shyong Tai Toshiko Tanaka Kirill V Tarasov Alexander Teumer Unnur Thorsteinsdottir Martin D Tobin Elena Tremoli Andre G Uitterlinden Matti Uusitupa Ahmad Vaez Dhananjay Vaidya Cornelia M van Duijn Erik P A van Iperen Ramachandran S Vasan Germaine C Verwoert Jarmo Virtamo Veronique Vitart Benjamin F Voight Peter Vollenweider Aline Wagner Louise V Wain Nicholas J Wareham Hugh Watkins Alan B Weder Harm-Jan Westra Rainford Wilks Tom Wilsgaard James F Wilson Tien Y Wong Tsun-Po Yang Jie Yao Loic Yengo Weihua Zhang Jing Hua Zhao Xiaofeng Zhu Pascal Bovet Richard S Cooper Karen L Mohlke Danish Saleheen Jong-Young Lee Paul Elliott Hinco J Gierman Cristen J Willer Lude Franke G Kees Hovingh Kent D Taylor George Dedoussis Peter Sever Andrew Wong Lars Lind Themistocles L Assimes Inger Njølstad Peter Eh Schwarz Claudia Langenberg Harold Snieder Mark J Caulfield Olle Melander Markku Laakso Juha Saltevo Rainer Rauramaa Jaakko Tuomilehto Erik Ingelsson Terho Lehtimäki Kristian Hveem Walter Palmas Winfried März Meena Kumari Veikko Salomaa Yii-Der I Chen Jerome I Rotter Philippe Froguel Marjo-Riitta Jarvelin Edward G Lakatta Kari Kuulasmaa Paul W Franks Anders Hamsten H-Erich Wichmann Colin N A Palmer Kari Stefansson Paul M Ridker Ruth J F Loos Aravinda Chakravarti Panos Deloukas Andrew P Morris Christopher Newton-Cheh Patricia B Munroe

Nat Genet 2016 10 12;48(10):1171-1184. Epub 2016 Sep 12.

Clinical Pharmacology, William Harvey Research Institute, Queen Mary University of London, London, EC1M 6BQ, UK.

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http://dx.doi.org/10.1038/ng.3667DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5042863PMC
October 2016

Demonstration of the presence of the "deleted" MIR122 gene in HepG2 cells.

PLoS One 2015 26;10(3):e0122471. Epub 2015 Mar 26.

Centre for Cardiovascular Genetics, BHF Laboratories, Institute of Cardiovascular Science, UCL, London, WC1E 6JF, United Kingdom.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0122471PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4374784PMC
March 2016

Post-GWAS methodologies for localisation of functional non-coding variants: ANGPTL3.

Atherosclerosis 2016 Mar 12;246:193-201. Epub 2015 Dec 12.

Department of Cardiovascular Genetics, Institute of Cardiovascular Sciences, University College London, London, UK. Electronic address:

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http://dx.doi.org/10.1016/j.atherosclerosis.2015.12.009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4773290PMC
March 2016

Functional Analysis of a Carotid Intima-Media Thickness Locus Implicates BCAR1 and Suggests a Causal Variant.

Circ Cardiovasc Genet 2015 Oct 14;8(5):696-706. Epub 2015 Aug 14.

From the Centre for Cardiovascular Genetics, Institute of Cardiovascular Sciences (F.B.-P., A.J.P.S., J.C., J.P., S.E.H.), National Centre for Cardiovascular Prevention and Outcomes Institute of Cardiovascular Science (J.E.D.), Department of Epidemiology and Public Health (M. Kumari, M. Kivimäki), University College London, London, United Kingdom; Department of Systems Biology, Center for Biological Sequence Analysis, Technical University of Denmark, Lyngby, Denmark (L.F.); Atherosclerosis Research Unit, Department of Medicine Solna, Karolinska Institutet, Center for Molecular Medicine, Karolinska University Hospital Solna, Stockholm, Sweden (L.F., A.H., K.G.); Department of Pharmacological and Biomolecular Sciences, Università degli Studi di Milano, University of Milan, Milan, Italy (A.L.C., A.B., G.D.N.); IRCCS Multimedica, Milan, Italy (A.L.C.); Department of Clinical Sciences, Lund University, Malmö, Sweden (O.M.); The Usher Institute of Population Health Sciences and Informatics, The University of Edinburgh Medical School, Edinburgh, United Kingdom (J.F.P.); Institute for Social and Economic Research, University of Essex, Colchester, United Kingdom (M. Kumari); and SISA Center for the Study of Atherosclerosis, Bassini Hospital, Cinisello Balsamo, Italy (G.D.N., A.B.).

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http://dx.doi.org/10.1161/CIRCGENETICS.115.001062DOI Listing
October 2015

Identifying functional noncoding variants from genome-wide association studies for cardiovascular disease and related traits.

Curr Opin Lipidol 2015 Apr;26(2):120-6

British Heart Foundation Laboratories, Institute of Cardiovascular Sciences, Centre for Cardiovascular Genetics, University College London, London, UK.

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http://content.wkhealth.com/linkback/openurl?sid=WKPTLP:land
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http://dx.doi.org/10.1097/MOL.0000000000000158DOI Listing
April 2015

Use of allele-specific FAIRE to determine functional regulatory polymorphism using large-scale genotyping arrays.

PLoS Genet 2012 16;8(8):e1002908. Epub 2012 Aug 16.

Centre for Cardiovascular Genetics, British Heart Foundation Laboratories, Institute of Cardiovascular Sciences, University College London, London, United Kingdom.

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https://dx.plos.org/10.1371/journal.pgen.1002908
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http://dx.doi.org/10.1371/journal.pgen.1002908DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3420950PMC
December 2012

Cytokine and cytokine receptor gene polymorphisms and their functionality.

Cytokine Growth Factor Rev 2009 Feb 28;20(1):43-59. Epub 2008 Nov 28.

Centre for Cardiovascular Genetics, Department of Medicine, University College London, United Kingdom.

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http://dx.doi.org/10.1016/j.cytogfr.2008.11.006DOI Listing
February 2009

Characterization of DNA-binding proteins using multiplexed competitor EMSA.

J Mol Biol 2009 Jan 27;385(3):714-7. Epub 2008 Nov 27.

Center for Cardiovascular Genetics, Department of Medicine, University College London, 5 University Street, London WC1E 6JF, UK.

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http://dx.doi.org/10.1016/j.jmb.2008.11.035DOI Listing
January 2009

The functional interaction on in vitro gene expression of APOA5 SNPs, defining haplotype APOA52, and their paradoxical association with plasma triglyceride but not plasma apoAV levels.

Biochim Biophys Acta 2008 Jul-Aug;1782(7-8):447-52. Epub 2008 Mar 18.

Division of Cardiovascular Genetics, Department of Medicine, University College London, 5 University Street, London WC1E 6JF, UK.

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http://dx.doi.org/10.1016/j.bbadis.2008.03.003DOI Listing
August 2008

Association of serum interleukin-6 concentration with a functional IL6 -6331T>C polymorphism.

Clin Chem 2008 May 20;54(5):841-50. Epub 2008 Mar 20.

Centre for Cardiovascular Genetics, Department of Medicine, University College London, London, UK.

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http://dx.doi.org/10.1373/clinchem.2007.098608DOI Listing
May 2008

A functional mutation in the LDLR promoter (-139C>G) in a patient with familial hypercholesterolemia.

Eur J Hum Genet 2007 Nov 11;15(11):1186-9. Epub 2007 Jul 11.

Department of Medicine, Centre for Cardiovascular Genetics, University College London, London, UK.

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http://dx.doi.org/10.1038/sj.ejhg.5201897DOI Listing
November 2007