Zobrazeno 1 - 10
of 35
pro vyhledávání: '"Jennifer G. Sambrook"'
Autor:
Anna Ramond, Ryan Chung, Emanuele Di Angelantonio, Jennifer G. Sambrook, Susan Mehenny, Amy McMahon, Stephen Kaptoge, Jane Armitage, Carmel Moore, Steven Bell, Dave Roberts, Michael J. Sweeting, Angela M. Wood, Donna Cullen, John Danesh, Sarah Fahle, Gail Miflin, Thomas Bolton, Matthew G. Walker, Willem H. Ouwehand
Publikováno v:
Transfusion Medicine (Oxford, England)
SUMMARYObjectiveTo compare four haemoglobin measurement methods in whole blood donors.BackgroundTo safeguard donors, blood services measure haemoglobin concentration in advance of each donation. NHS Blood and Transplant’s (NHSBT) usual method has b
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9bf22cf4e398ee664fdeba9d55516f8d
https://ora.ox.ac.uk/objects/uuid:24d4ca81-bee1-48df-96cf-17d849c4bef4
https://ora.ox.ac.uk/objects/uuid:24d4ca81-bee1-48df-96cf-17d849c4bef4
Autor:
Joshua C Randall, Thomas W Winkler, Zoltán Kutalik, Sonja I Berndt, Anne U Jackson, Keri L Monda, Tuomas O Kilpeläinen, Tõnu Esko, Reedik Mägi, Shengxu Li, Tsegaselassie Workalemahu, Mary F Feitosa, Damien C Croteau-Chonka, Felix R Day, Tove Fall, Teresa Ferreira, Stefan Gustafsson, Adam E Locke, Iain Mathieson, Andre Scherag, Sailaja Vedantam, Andrew R Wood, Liming Liang, Valgerdur Steinthorsdottir, Gudmar Thorleifsson, Emmanouil T Dermitzakis, Antigone S Dimas, Fredrik Karpe, Josine L Min, George Nicholson, Deborah J Clegg, Thomas Person, Jon P Krohn, Sabrina Bauer, Christa Buechler, Kristina Eisinger, DIAGRAM Consortium, Amélie Bonnefond, Philippe Froguel, MAGIC Investigators, Jouke-Jan Hottenga, Inga Prokopenko, Lindsay L Waite, Tamara B Harris, Albert Vernon Smith, Alan R Shuldiner, Wendy L McArdle, Mark J Caulfield, Patricia B Munroe, Henrik Grönberg, Yii-Der Ida Chen, Guo Li, Jacques S Beckmann, Toby Johnson, Unnur Thorsteinsdottir, Maris Teder-Laving, Kay-Tee Khaw, Nicholas J Wareham, Jing Hua Zhao, Najaf Amin, Ben A Oostra, Aldi T Kraja, Michael A Province, L Adrienne Cupples, Nancy L Heard-Costa, Jaakko Kaprio, Samuli Ripatti, Ida Surakka, Francis S Collins, Jouko Saramies, Jaakko Tuomilehto, Antti Jula, Veikko Salomaa, Jeanette Erdmann, Christian Hengstenberg, Christina Loley, Heribert Schunkert, Claudia Lamina, H Erich Wichmann, Eva Albrecht, Christian Gieger, Andrew A Hicks, Asa Johansson, Peter P Pramstaller, Sekar Kathiresan, Elizabeth K Speliotes, Brenda Penninx, Anna-Liisa Hartikainen, Marjo-Riitta Jarvelin, Ulf Gyllensten, Dorret I Boomsma, Harry Campbell, James F Wilson, Stephen J Chanock, Martin Farrall, Anuj Goel, Carolina Medina-Gomez, Fernando Rivadeneira, Karol Estrada, André G Uitterlinden, Albert Hofman, M Carola Zillikens, Martin den Heijer, Lambertus A Kiemeney, Andrea Maschio, Per Hall, Jonathan Tyrer, Alexander Teumer, Henry Völzke, Peter Kovacs, Anke Tönjes, Massimo Mangino, Tim D Spector, Caroline Hayward, Igor Rudan, Alistair S Hall, Nilesh J Samani, Antony Paul Attwood, Jennifer G Sambrook, Joseph Hung, Lyle J Palmer, Marja-Liisa Lokki, Juha Sinisalo, Gabrielle Boucher, Heikki Huikuri, Mattias Lorentzon, Claes Ohlsson, Niina Eklund, Johan G Eriksson, Cristina Barlassina, Carlo Rivolta, Ilja M Nolte, Harold Snieder, Melanie M Van der Klauw, Jana V Van Vliet-Ostaptchouk, Pablo V Gejman, Jianxin Shi, Kevin B Jacobs, Zhaoming Wang, Stephan J L Bakker, Irene Mateo Leach, Gerjan Navis, Pim van der Harst, Nicholas G Martin, Sarah E Medland, Grant W Montgomery, Jian Yang, Daniel I Chasman, Paul M Ridker, Lynda M Rose, Terho Lehtimäki, Olli Raitakari, Devin Absher, Carlos Iribarren, Hanneke Basart, Kees G Hovingh, Elina Hyppönen, Chris Power, Denise Anderson, John P Beilby, Jennie Hui, Jennifer Jolley, Hendrik Sager, Stefan R Bornstein, Peter E H Schwarz, Kati Kristiansson, Markus Perola, Jaana Lindström, Amy J Swift, Matti Uusitupa, Mustafa Atalay, Timo A Lakka, Rainer Rauramaa, Jennifer L Bolton, Gerry Fowkes, Ross M Fraser, Jackie F Price, Krista Fischer, Kaarel Krjutå Kov, Andres Metspalu, Evelin Mihailov, Claudia Langenberg, Jian'an Luan, Ken K Ong, Peter S Chines, Sirkka M Keinanen-Kiukaanniemi, Timo E Saaristo, Sarah Edkins, Paul W Franks, Göran Hallmans, Dmitry Shungin, Andrew David Morris, Colin N A Palmer, Raimund Erbel, Susanne Moebus, Markus M Nöthen, Sonali Pechlivanis, Kristian Hveem, Narisu Narisu, Anders Hamsten, Steve E Humphries, Rona J Strawbridge, Elena Tremoli, Harald Grallert, Barbara Thorand, Thomas Illig, Wolfgang Koenig, Martina Müller-Nurasyid, Annette Peters, Bernhard O Boehm, Marcus E Kleber, Winfried März, Bernhard R Winkelmann, Johanna Kuusisto, Markku Laakso, Dominique Arveiler, Giancarlo Cesana, Kari Kuulasmaa, Jarmo Virtamo, John W G Yarnell, Diana Kuh, Andrew Wong, Lars Lind, Ulf de Faire, Bruna Gigante, Patrik K E Magnusson, Nancy L Pedersen, George Dedoussis, Maria Dimitriou, Genovefa Kolovou, Stavroula Kanoni, Kathleen Stirrups, Lori L Bonnycastle, Inger Njølstad, Tom Wilsgaard, Andrea Ganna, Emil Rehnberg, Aroon Hingorani, Mika Kivimaki, Meena Kumari, Themistocles L Assimes, Inês Barroso, Michael Boehnke, Ingrid B Borecki, Panos Deloukas, Caroline S Fox, Timothy Frayling, Leif C Groop, Talin Haritunians, David Hunter, Erik Ingelsson, Robert Kaplan, Karen L Mohlke, Jeffrey R O'Connell, David Schlessinger, David P Strachan, Kari Stefansson, Cornelia M van Duijn, Gonçalo R Abecasis, Mark I McCarthy, Joel N Hirschhorn, Lu Qi, Ruth J F Loos, Cecilia M Lindgren, Kari E North, Iris M Heid
Publikováno v:
PLoS Genetics, Vol 9, Iss 6, p e1003500 (2013)
Given the anthropometric differences between men and women and previous evidence of sex-difference in genetic effects, we conducted a genome-wide search for sexually dimorphic associations with height, weight, body mass index, waist circumference, hi
Externí odkaz:
https://doaj.org/article/2a376c2631d74ba1a23a7f38df816835
Autor:
Stephen Kaptoge, Jeffrey M. Verboon, Jennifer G. Sambrook, Emanuele Di Angelantonio, Tao Jiang, William J. Astle, Louisa Mayer, Taco W. Kuijpers, Janine Collins, Vijay G. Sankaran, Michel Georges, Nicholas A. Watkins, Julian C. Knight, Kousik Kundu, Roman Kreuzhuber, Kate Downes, Adam S. Butterworth, Stephen Burgess, David J. Roberts, Luigi Grassi, Stuart Meacham, Dragana Vuckovic, Denis Seyres, Jose A. Guerrero, Parsa Akbari, Mattia Frontini, Nicole Soranzo, Willem H. Ouwehand, Klaudia Walter, Erik L. Bao, John Danesh, Oliver Stegle, James E. Peters
SUMMARYThousands of genetic associations with phenotypes of blood cells are known, but few are with phenotypes relevant to cell function. We performed GWAS of 63 flow-cytometry phenotypes, including measures of cell granularity, nucleic acid content,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::77204aa7f66798175de58d103cb10056
Autor:
Augusto Rendon, John M. Jongerius, Nicholas A. Watkins, Kim Brügger, Nicholas Gleadall, Daniel Duarte, Tiffany C. Timmer, Sara Trompeter, Matthew R. Walker, Jennifer G. Sambrook, David J. Roberts, Christopher J. Penkett, Carolin M. Sauer, Nieke van der Bolt, Barbera Veldhuisen, Shane Grimsley, Colin Brown, Adam S. Butterworth, Michael J. Sweeting, Salih Tuna, Emanuele Di Angelantonio, John Ord, Karyn Megy, Jessie S Luken, C. Ellen van der Schoot, Ilenia Simeoni, Gail Miflin, William J. Lane, Nicole Thornton, Ram Varma, William J. Astle, Connie M. Westhoff, Christopher S. Nelson, Katja van den Hurk, Jeremy Gollub, Kathleen Stirrups, Willem H. Ouwehand, Femmeke J. Prinsze, Alexander T. Dilthey, John Danesh
Publikováno v:
Blood Advances
NIHR BioResource & Blood Transfusion Genomics Consortium 2020, ' Development and validation of a universal blood donor genotyping platform : A multinational prospective study ', BLOOD ADVANCES, vol. 4, no. 15, pp. 3495-3506 . https://doi.org/10.1182/bloodadvances.2020001894
BLOOD ADVANCES, 4(15), 3495-3506. American Society of Hematology
Blood advances, 4(15), 3495-3506. American Society of Hematology
Blood Adv
NIHR BioResource & Blood Transfusion Genomics Consortium 2020, ' Development and validation of a universal blood donor genotyping platform : A multinational prospective study ', BLOOD ADVANCES, vol. 4, no. 15, pp. 3495-3506 . https://doi.org/10.1182/bloodadvances.2020001894
BLOOD ADVANCES, 4(15), 3495-3506. American Society of Hematology
Blood advances, 4(15), 3495-3506. American Society of Hematology
Blood Adv
Each year, blood transfusions save millions of lives. However, under current blood-matching practices, sensitization to non–self-antigens is an unavoidable adverse side effect of transfusion. We describe a universal donor typing platform that could
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::23f8e6a3d38341f90fabddfc6b525937
https://hdl.handle.net/11250/2763961
https://hdl.handle.net/11250/2763961
Autor:
Jonas Carlsson Almlöf, Per Lundmark, Anders Lundmark, Bing Ge, Seraya Maouche, Harald H H Göring, Ulrika Liljedahl, Camilla Enström, Jessy Brocheton, Carole Proust, Tiphaine Godefroy, Jennifer G Sambrook, Jennifer Jolley, Abigail Crisp-Hihn, Nicola Foad, Heather Lloyd-Jones, Jonathan Stephens, Rhian Gwilliam, Catherine M Rice, Christian Hengstenberg, Nilesh J Samani, Jeanette Erdmann, Heribert Schunkert, Tomi Pastinen, Panos Deloukas, Alison H Goodall, Willem H Ouwehand, François Cambien, Ann-Christine Syvänen
Publikováno v:
PLoS ONE, Vol 7, Iss 12, p e52260 (2012)
A large number of genome-wide association studies have been performed during the past five years to identify associations between SNPs and human complex diseases and traits. The assignment of a functional role for the identified disease-associated SN
Externí odkaz:
https://doaj.org/article/d0a286581c23430fa9c2b3d1ada6f11f
Autor:
Nigel R. Ovington, Jennifer Leng, Christopher Hübel, R. K. Price, Sofie Ashford, Megan Hammond Bennett, Le Roy C. Dowey, Henry C. Rogers, Allan H. Young, Anthony J. Cleare, Donald M. Lyall, Eddy L.A. Suarez, Jonathan R. I. Coleman, Charles Curtis, Ian Jones, David Veale, Anna Spaul, Shivani Parikh, Katie M White, Susannah C.B. Curzons, Ioana Beange, Carmine M. Pariante, Nathalie Kingston, Megan Skelton, Jennifer G. Sambrook, Janet Wingrove, Bethany D. Mason, Daniel J. Smith, Gursharan Kalsi, Alexei Moulton, Alicia J. Peel, Yoriko Hirose, James T.R. Walters, Kimberley Goldsmith, Andrew M. McIntosh, Victor A. Gault, Elisavet Palaiologou, Dina Monssen, Katrina A. S. Davis, Carola Kanz, Anamaria Brailean, John Bradley, Monika McAtarsney-Kovacs, Cherie Armour, Bronte L. Sykes, Evangelos Vassos, Molly R. Davies, Gerome Breen, Matthew Hotopf, Keith Thomas, Katharine A. Rimes, Thalia C. Eley
Publikováno v:
Davies, M R, Kalsi, G, Armour, C, Jones, I, McIntosh, A, Smith, D J, Walters, J T R, Bradley, J R, Kingston, N, Ashford, S, Beange, I, Brailean, A, Cleare, A J, Coleman, J R I, Curtis, C J, Curzons, S C B, Davis, K A S, Downey, L, Gault, V, Goldsmith, K A, Hammond Bennett, M, Hirose, Y, Hotopf, M H, Huebel, C, Leng, J, Mason, B D, McAtarsney-Kovacs, M, Monssen, D, Palaiologou, E, Pariante, C M, Parikh, S, Peel, A, Price, R, Rimes, K A, Rogers, H C, Skelton, M, Spaul, A, Almira Suarez, E L, Sykes, B L, Thomas, K, Young, A, Vassos, E, Veale, D, White, K M, Wingrove, J, Eley, T C & Breen, G D 2019, ' The Genetic Links to Anxiety and Depression (GLAD) Study : Online recruitment into the largest recontactable study of depression and anxiety ', Behaviour Research and Therapy, vol. 123, 103503 . https://doi.org/10.1016/j.brat.2019.103503
Behaviour Research and Therapy
2019, ' The Genetic Links to Anxiety and Depression (GLAD) Study: Online recruitment into the largest recontactable study of depression and anxiety ', Behaviour Research and Therapy, vol. 123, pp. 103503 . https://doi.org/10.1016/j.brat.2019.103503, https://doi.org/10.1016/j.brat.2019.103503
NIHR BioResource consortium 2019, ' The Genetic Links to Anxiety and Depression (GLAD) Study: Online recruitment into the largest recontactable study of depression and anxiety ', Behaviour Research and Therapy, vol. 123, 103503 . https://doi.org/10.1016/j.brat.2019.103503
Behaviour Research and Therapy
2019, ' The Genetic Links to Anxiety and Depression (GLAD) Study: Online recruitment into the largest recontactable study of depression and anxiety ', Behaviour Research and Therapy, vol. 123, pp. 103503 . https://doi.org/10.1016/j.brat.2019.103503, https://doi.org/10.1016/j.brat.2019.103503
NIHR BioResource consortium 2019, ' The Genetic Links to Anxiety and Depression (GLAD) Study: Online recruitment into the largest recontactable study of depression and anxiety ', Behaviour Research and Therapy, vol. 123, 103503 . https://doi.org/10.1016/j.brat.2019.103503
Background Anxiety and depression are common, debilitating and costly. These disorders are influenced by multiple risk factors, from genes to psychological vulnerabilities and environmental stressors, but research is hampered by a lack of sufficientl
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::83e2872f207fb6ffd59e9054fd17bbb1
https://eprints.gla.ac.uk/201913/1/201913.pdf
https://eprints.gla.ac.uk/201913/1/201913.pdf
Autor:
Christopher L. Bowlus, Sören Mucha, Piotr Milkiewicz, Jennifer G. Sambrook, Michael P. Manns, Peter R. Durie, Daniel J. Gaffney, Catalina Coltescu, Konstantinos N. Lazaridis, David Ellinghaus, Daniel Gotthardt, George F. Mells, Espen Melum, Joseph A. Odin, Mattias Laudes, Cisca Wijmenga, Kris V. Kowdley, Annarosa Floreani, Tejas S. Shah, Richard Sandford, Erik M. Schlicht, Kirsten Muri Boberg, Javier Gutierrez-Achury, Felix Braun, Martina Sterneck, Carl A. Anderson, Tom H. Karlsen, Andre Franke, Velimir A. Luketic, Brijesh Srivastava, Aliya Gulamhusein, Elizabeth C. Goode, Kelly Spiess, Gunnar Jacobs, Olivier Chazouillères, Wolfgang Lieb, Tobias Müller, Andreas Teufel, Trine Folseraas, Roger W. Chapman, Hanns-Ulrich Marschall, David J. Roberts, Christoph Schramm, Sun-Gou Ji, Albert Parés, Mariza de Andrade, Stefan Schreiber, Elizabeth J. Atkinson, Kimmo Kontula, Pietro Invernizzi, Simon M. Rushbrook, Luke Jostins, Carmel Moore, Naga Chalasani, Jimmy Z. Liu, Brian D. Juran, Willem H. Ouwehand, Graeme J.M. Alexander, John E. Eaton, Gideon M. Hirschfield, Natsuhiko Kumasaka, Martti Färkkilä, Annika Bergquist, Kapil B. Chopra, John Danesh, Bertus Eksteen, Tobias J. Weismüller, Rinse K. Weersma, Ulrich Beuers, Severine Vermeire
Publikováno v:
Nature genetics
Recercat. Dipósit de la Recerca de Catalunya
instname
Nature genetics, 49(2), 269-273. Nature Publishing Group
Nature Genetics, 49(2), 269-273. Nature Publishing Group
Dipòsit Digital de la UB
Universidad de Barcelona
Recercat. Dipósit de la Recerca de Catalunya
instname
Nature genetics, 49(2), 269-273. Nature Publishing Group
Nature Genetics, 49(2), 269-273. Nature Publishing Group
Dipòsit Digital de la UB
Universidad de Barcelona
Primary sclerosing cholangitis (PSC) is a rare progressive disorder leading to bile duct destruction; similar to 75% of patients have comorbid inflammatory bowel disease (IBD). We undertook the largest genome-wide association study of PSC (4,796 case
Autor:
Corneliu A. Bodea, Benjamin M. Neale, Stephan Ripke, Mark J. Daly, Bernie Devlin, Kathryn Roeder, Murray Barclay, Laurent Peyrin-Biroulet, Mathias Chamaillard, Jean-Frederick Colombel, Mario Cottone, Anthony Croft, Renata D’Incà, Jonas Halfvarson, Katherine Hanigan, Paul Henderson, Jean-Pierre Hugot, Amir Karban, Nicholas A. Kennedy, Mohammed Azam Khan, Marc Lémann, Arie Levine, Dunecan Massey, Monica Milla, Grant W. Montgomery, Sok Meng Evelyn Ng, Ioannis Oikonomou, Harald Peeters, Deborah D. Proctor, Jean-Francois Rahier, Rebecca Roberts, Paul Rutgeerts, Frank Seibold, Laura Stronati, Kirstin M. Taylor, Leif Törkvist, Kullak Ublick, Johan Van Limbergen, Andre Van Gossum, Morten H. Vatn, Hu Zhang, Wei Zhang, Jane M. Andrews, Peter A. Bampton, Timothy H. Florin, Richard Gearry, Krupa Krishnaprasad, Ian C. Lawrance, Gillian Mahy, Graham Radford-Smith, Rebecca L. Roberts, Lisa A. Simms, Leila Amininijad, Isabelle Cleynen, Olivier Dewit, Denis Franchimont, Michel Georges, Debby Laukens, Emilie Theatre, André Van Gossum, Severine Vermeire, Guy Aumais, Leonard Baidoo, Arthur M. Barrie, Karen Beck, Edmond-Jean Bernard, David G. Binion, Alain Bitton, Steve R. Brant, Judy H. Cho, Albert Cohen, Kenneth Croitoru, Lisa W. Datta, Colette Deslandres, Richard H. Duerr, Debra Dutridge, John Ferguson, Joann Fultz, Philippe Goyette, Gordon R. Greenberg, Talin Haritunians, Gilles Jobin, Seymour Katz, Raymond G. Lahaie, Dermot P. McGovern, Linda Nelson, Sok Meng Ng, Kaida Ning, Pierre Paré, Miguel D. Regueiro, John D. Rioux, Elizabeth Ruggiero, L. Philip Schumm, Marc Schwartz, Regan Scott, Yashoda Sharma, Mark S. Silverberg, Denise Spears, A. Hillary Steinhart, Joanne M. Stempak, Jason M. Swoger, Constantina Tsagarelis, Clarence Zhang, Hongyu Zhao, Jan Aerts, Tariq Ahmad, Hazel Arbury, Anthony Attwood, Adam Auton, Stephen G. Ball, Anthony J. Balmforth, Chris Barnes, Jeffrey C. Barrett, Inês Barroso, Anne Barton, Amanda J. Bennett, Sanjeev Bhaskar, Katarzyna Blaszczyk, John Bowes, Oliver J. Brand, Peter S. Braund, Francesca Bredin, Gerome Breen, Morris J. Brown, Ian N. Bruce, Jaswinder Bull, Oliver S. Burren, John Burton, Jake Byrnes, Sian Caesar, Niall Cardin, Chris M. Clee, Alison J. Coffey, John M.C. Connell, Donald F. Conrad, Jason D. Cooper, Anna F. Dominiczak, Kate Downes, Hazel E. Drummond, Darshna Dudakia, Andrew Dunham, Bernadette Ebbs, Diana Eccles, Sarah Edkins, Cathryn Edwards, Anna Elliot, Paul Emery, David M. Evans, Gareth Evans, Steve Eyre, Anne Farmer, Nicol Ferrier, Edward Flynn, Alistair Forbes, Liz Forty, Jayne A. Franklyn, Timothy M. Frayling, Rachel M. Freathy, Eleni Giannoulatou, Polly Gibbs, Paul Gilbert, Katherine Gordon-Smith, Emma Gray, Elaine Green, Chris J. Groves, Detelina Grozeva, Rhian Gwilliam, Anita Hall, Naomi Hammond, Matt Hardy, Pile Harrison, Neelam Hassanali, Husam Hebaishi, Sarah Hines, Anne Hinks, Graham A. Hitman, Lynne Hocking, Chris Holmes, Eleanor Howard, Philip Howard, Joanna M.M. Howson, Debbie Hughes, Sarah Hunt, John D. Isaacs, Mahim Jain, Derek P. Jewell, Toby Johnson, Jennifer D. Jolley, Ian R. Jones, Lisa A. Jones, George Kirov, Cordelia F. Langford, Hana Lango-Allen, G. Mark Lathrop, James Lee, Kate L. Lee, Charlie Lees, Kevin Lewis, Cecilia M. Lindgren, Meeta Maisuria-Armer, Julian Maller, John Mansfield, Jonathan L. Marchini, Paul Martin, Dunecan C.O. Massey, Wendy L. McArdle, Peter McGuffin, Kirsten E. McLay, Gil McVean, Alex Mentzer, Michael L. Mimmack, Ann E. Morgan, Andrew P. Morris, Craig Mowat, Patricia B. Munroe, Simon Myers, William Newman, Elaine R. Nimmo, Michael C. O’Donovan, Abiodun Onipinla, Nigel R. Ovington, Michael J. Owen, Kimmo Palin, Aarno Palotie, Kirstie Parnell, Richard Pearson, David Pernet, John R.B. Perry, Anne Phillips, Vincent Plagnol, Natalie J. Prescott, Inga Prokopenko, Michael A. Quail, Suzanne Rafelt, Nigel W. Rayner, David M. Reid, Anthony Renwick, Susan M. Ring, Neil Robertson, Samuel Robson, Ellie Russell, David St Clair, Jennifer G. Sambrook, Jeremy D. Sanderson, Stephen J. Sawcer, Helen Schuilenburg, Carol E. Scott, Richard Scott, Sheila Seal, Sue Shaw-Hawkins, Beverley M. Shields, Matthew J. Simmonds, Debbie J. Smyth, Elilan Somaskantharajah, Katarina Spanova, Sophia Steer, Jonathan Stephens, Helen E. Stevens, Kathy Stirrups, Millicent A. Stone, David P. Strachan, Zhan Su, Deborah P.M. Symmons, John R. Thompson, Wendy Thomson, Martin D. Tobin, Mary E. Travers, Clare Turnbull, Damjan Vukcevic, Louise V. Wain, Mark Walker, Neil M. Walker, Chris Wallace, Margaret Warren-Perry, Nicholas A. Watkins, John Webster, Michael N. Weedon, Anthony G. Wilson, Matthew Woodburn, B. Paul Wordsworth, Chris Yau, Allan H. Young, Eleftheria Zeggini, Matthew A. Brown, Paul R. Burton, Mark J. Caulfield, Alastair Compston, Martin Farrall, Stephen C.L. Gough, Alistair S. Hall, Andrew T. Hattersley, Adrian V.S. Hill, Christopher G. Mathew, Marcus Pembrey, Jack Satsangi, Michael R. Stratton, Jane Worthington, Matthew E. Hurles, Audrey Duncanson, Willem H. Ouwehand, Miles Parkes, Nazneen Rahman, John A. Todd, Nilesh J. Samani, Dominic P. Kwiatkowski, Mark I. McCarthy, Nick Craddock, Panos Deloukas, Peter Donnelly, Jenefer M. Blackwell, Elvira Bramon, Juan P. Casas, Aiden Corvin, Janusz Jankowski, Hugh S. Markus, Colin N.A. Palmer, Robert Plomin, Anna Rautanen, Richard C. Trembath, Ananth C. Viswanathan, Nicholas W. Wood, Chris C.A. Spencer, Gavin Band, Céline Bellenguez, Colin Freeman, Garrett Hellenthal, Matti Pirinen, Amy Strange, Hannah Blackburn, Suzannah J. Bumpstead, Serge Dronov, Matthew Gillman, Alagurevathi Jayakumar, Owen T. McCann, Jennifer Liddle, Simon C. Potter, Radhi Ravindrarajah, Michelle Ricketts, Matthew Waller, Paul Weston, Sara Widaa, Pamela Whittaker
Publikováno v:
American journal of human genetics, Vol. 98, no. 5, p. 857-868 (2016)
A. Palotie on työryhmän Int IBD Genetics Consortium jäsen. One goal of human genetics is to understand the genetic basis of disease, a challenge for diseases of complex inheritance because risk alleles are few relative to the vast set of benign va
Autor:
Marcel Levi, Mieke D. Trip, Nicole Soranzo, Suthesh Sivapalaratnam, Jennifer G. Sambrook, Erik P A Van Iperen, John J.P. Kastelein, S. Matthijs Boekholdt, Aeilko H. Zwinderman, Michael W.T. Tanck, Stephanie Maiwald, Willem H. Ouwehand, Jonathan Stephens, G. Kees Hovingh
Publikováno v:
European journal of human genetics, 22(6), 809-813. Nature Publishing Group
In recent years, multiple loci dispersed on the genome have been shown to be associated with coronary artery disease (CAD). We investigated whether these common genetic variants also hold value for CAD prediction in a large cohort of patients with fa
Autor:
Elena Prigmore, Christopher Thornborough, Judith A. Goodship, Koenraad Devriendt, Matthew E. Hurles, Siddharth Banka, Hashim Abdul-Khaliq, Carmel Moore, Denise Williams, Seham Osman Omer, Soo-Mi Park, Diana Rajan, Okan Toka, Ganesh J. Swaminathan, Jeffrey C. Barrett, Martin O. Pollard, Frances A. Bu'Lock, Allan Daly, Anne-Karin Kahlert, Tessa Homfray, Shoumo Bhattacharya, Catherine Cosgrove, Irina-Gabriela Colgiu, Tarjinder Singh, Ingo Daehnert, Karen P. McCarthy, Michael Parker, Brigitte Stiller, Jeroen Breckpot, U.M.M. Bauer, Anna Wilsdon, Kay Metcalfe, Dorin Manase, Ami Ketley, David R. FitzPatrick, Bernard Thienpont, Katherine Lachlan, Jeremy F. McRae, Kirstin Hoff, Helen V. Firth, Marc Gewillig, Sabine Klaassen, Seema Mital, Alan Fryer, Jennifer G. Sambrook, Kerry Setchfield, Willem H. Ouwehand, Hans-Heiner Kramer, Michael Wright, Saeed Al Turki, Jacoba Louw, Bernard Keavney, AK Lampe, Hugh Watkins, Natalie Canham, Jamie Bentham, Riyadh M. Abu-Sulaiman, Ashok Kumar Manickara, Thomas Pickardt, Alejandro Sifrim, David J. Roberts, J. David Brook, Ruth Newbury-Ecob, John Danesh, Caroline F. Wright, Leema Robert, Marc-Phillip Hitz, Felix Berger, Piers E.F. Daubeney, Emma Hobson, Tomas W Fitzgerald, Helen Cox
Publikováno v:
Nature genetics
Sifrim, A, Hitz, M-P, Wilsdon, A, Breckpot, J, Turki, S H A, Thienpont, B, McRae, J, Fitzgerald, T W, Singh, T, Swaminathan, G J, Prigmore, E, Rajan, D, Abdul-Khaliq, H, Banka, S, Bauer, U M M, Bentham, J, Berger, F, Bhattacharya, S, Bu'Lock, F, Canham, N, Colgiu, I-G, Cosgrove, C, Cox, H, Daehnert, I, Daly, A, Danesh, J, Fryer, A, Gewillig, M, Hobson, E, Hoff, K, Homfray, T, Kahlert, A-K, Ketley, A, Kramer, H-H, Lachlan, K, Lampe, A K, Louw, J J, Manickara, A K, Manase, D, McCarthy, K P, Metcalfe, K, Moore, C, Newbury-Ecob, R, Omer, S O, Ouwehand, W H, Park, S-M, Parker, M J, Pickardt, T & Pollard, M O & FitzPatrick, D R 2016, ' Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing ', Nature Genetics, vol. 48, no. 9, pp. 1060-5 . https://doi.org/10.1038/ng.3627
Sifrim, A, Hitz, M-P, Wilsdon, A, Breckpot, J, Turki, S H A, Thienpont, B, McRae, J, Fitzgerald, T W, Singh, T, Swaminathan, G J, Prigmore, E, Rajan, D, Abdul-Khaliq, H, Banka, S, Bauer, U M M, Bentham, J, Berger, F, Bhattacharya, S, Bu'Lock, F, Canham, N, Colgiu, I-G, Cosgrove, C, Cox, H, Daehnert, I, Daly, A, Danesh, J, Fryer, A, Gewillig, M, Hobson, E, Hoff, K, Homfray, T, Kahlert, A-K, Ketley, A, Kramer, H-H, Lachlan, K, Lampe, A K, Louw, J J, Manickara, A K, Manase, D, McCarthy, K P, Metcalfe, K, Moore, C, Newbury-Ecob, R, Omer, S O, Ouwehand, W H, Park, S-M, Parker, M J, Pickardt, T, Pollard, M O, Keavney, B & INTERVAL Study 2016, ' Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing ', Nature Genetics, vol. 48, no. 9, pp. 1060-5 . https://doi.org/10.1038/ng.3627
Sifrim, A, Hitz, M-P, Wilsdon, A, Breckpot, J, Turki, S H A, Thienpont, B, McRae, J, Fitzgerald, T W, Singh, T, Swaminathan, G J, Prigmore, E, Rajan, D, Abdul-Khaliq, H, Banka, S, Bauer, U M M, Bentham, J, Berger, F, Bhattacharya, S, Bu'Lock, F, Canham, N, Colgiu, I-G, Cosgrove, C, Cox, H, Daehnert, I, Daly, A, Danesh, J, Fryer, A, Gewillig, M, Hobson, E, Hoff, K, Homfray, T, Kahlert, A-K, Ketley, A, Kramer, H-H, Lachlan, K, Lampe, A K, Louw, J J, Manickara, A K, Manase, D, McCarthy, K P, Metcalfe, K, Moore, C, Newbury-Ecob, R, Omer, S O, Ouwehand, W H, Park, S-M, Parker, M J, Pickardt, T & Pollard, M O & FitzPatrick, D R 2016, ' Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing ', Nature Genetics, vol. 48, no. 9, pp. 1060-5 . https://doi.org/10.1038/ng.3627
Sifrim, A, Hitz, M-P, Wilsdon, A, Breckpot, J, Turki, S H A, Thienpont, B, McRae, J, Fitzgerald, T W, Singh, T, Swaminathan, G J, Prigmore, E, Rajan, D, Abdul-Khaliq, H, Banka, S, Bauer, U M M, Bentham, J, Berger, F, Bhattacharya, S, Bu'Lock, F, Canham, N, Colgiu, I-G, Cosgrove, C, Cox, H, Daehnert, I, Daly, A, Danesh, J, Fryer, A, Gewillig, M, Hobson, E, Hoff, K, Homfray, T, Kahlert, A-K, Ketley, A, Kramer, H-H, Lachlan, K, Lampe, A K, Louw, J J, Manickara, A K, Manase, D, McCarthy, K P, Metcalfe, K, Moore, C, Newbury-Ecob, R, Omer, S O, Ouwehand, W H, Park, S-M, Parker, M J, Pickardt, T, Pollard, M O, Keavney, B & INTERVAL Study 2016, ' Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing ', Nature Genetics, vol. 48, no. 9, pp. 1060-5 . https://doi.org/10.1038/ng.3627
Congenital heart defects (CHDs) have a neonatal incidence of 0.8–1% (refs. 1,2). Despite abundant examples of monogenic CHD in humans and mice, CHD has a low absolute sibling recurrence risk (~2.7%)3, suggesting a considerable role for de novo muta
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