检索结果 - Augusto Rendon

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  1. 1
    Comparison of Methods for Competitive Tests of Pathway Analysis

    Comparison of Methods for Competitive Tests of Pathway Analysis 由 Marina Evangelou, Augusto Rendon, Willem H. Ouwehand, Lorenz Wernisch, Frank Dudbridge

    出版 2012
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  2. 2
    Newborn Screening by Genomic Sequencing: Opportunities and Challenges

    Newborn Screening by Genomic Sequencing: Opportunities and Challenges 由 David Bick, Arzoo Ahmed, Dasha Deen, Alessandra Ferlini, Nicolas Garnier, Dalia Kasperavičiūtė, Mathilde Leblond, Amanda Pichini, Augusto Rendon, Aditi Satija, Alice Tuff-Lacey, Richard H. Scott

    出版 2022
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  3. 3
    A GWAS sequence variant for platelet volume marks an alternative DNM3 promoter in megakaryocytes near a MEIS1 binding site

    A GWAS sequence variant for platelet volume marks an alternative DNM3 promoter in megakaryocytes near a MEIS1 binding site 由 Sylvia Nürnberg, Augusto Rendon, Peter A. Smethurst, Dirk S. Paul, Katrin Voß, Jonathan N. Thon, Heather Lloyd-Jones, Jennifer G. Sambrook, Marloes R. Tijssen, Joseph E. Italiano, Panos Deloukas, Berthold Göttgens, Nicole Soranzo, Willem H. Ouwehand

    出版 2012
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  4. 4
    Gray platelet syndrome: proinflammatory megakaryocytes and α-granule loss cause myelofibrosis and confer metastasis resistance in mice

    Gray platelet syndrome: proinflammatory megakaryocytes and α-granule loss cause myelofibrosis and confer metastasis resistance in mice 由 José A. Guerrero, Cavan Bennett, Louise van der Weyden, Harriet McKinney, Melody Chin, Paquita Nurden, Zoe McIntyre, Emma L. Cambridge, Jeanne Estabel, Hannah Wardle‐Jones, Anneliese O. Speak, Wendy N. Erber, Augusto Rendon, Willem H. Ouwehand, Cédric Ghevaert

    出版 2014
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  5. 5
    The National Genomics Research and Healthcare Knowledgebase

    The National Genomics Research and Healthcare Knowledgebase 由 Mark J. Caulfield, Jim Davies, Martin Dennys, Leila Elbahy, Tom Fowler, Sue Hill, Tim Hubbard, Luke Jostins, Nick Maltby, Jeanna Mahon-Pearson, Gil McVean, Katrina Nevin-Ridley, Matthew Parker, Vivienne Parry, Augusto Rendon, Laura E. Riley, Clare Turnbull, Kerrie Woods

    出版 2019
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    Conjunto de Dados
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  6. 6
    Canonical Wnt signaling in megakaryocytes regulates proplatelet formation

    Canonical Wnt signaling in megakaryocytes regulates proplatelet formation 由 Iain C. Macaulay, Jonathan N. Thon, Marloes R. Tijssen, Brian M. Steele, Bryan T. MacDonald, Gerardene Meade, Philippa Burns, Augusto Rendon, Vishal A. Salunkhe, Ronan P. Murphy, Cavan Bennett, Nicholas A. Watkins, Xi He, Desmond J. Fitzgerald, Joseph E. Italiano, Patricia B. Maguire

    出版 2012
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  7. 7
    Exome sequencing identifies NBEAL2 as the causative gene for gray platelet syndrome

    Exome sequencing identifies NBEAL2 as the causative gene for gray platelet syndrome 由 Cornelis A. Albers, Ana Cvejic, Rémi Favier, Evelien E. Bouwmans, Marie‐Christine Alessi, Paul Bertone, Gregory E. Jordan, Ross Kettleborough, Graham Kiddle, Myrto Kostadima, Randy J. Read, Botond Sipos, Suthesh Sivapalaratnam, Peter A. Smethurst, Jonathan Stephens, Katrin Voß, Alan T. Nurden, Augusto Rendon, Paquita Nurden, Willem H. Ouwehand

    出版 2011
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  8. 8
    A novel variant on chromosome 7q22.3 associated with mean platelet volume, counts, and function

    A novel variant on chromosome 7q22.3 associated with mean platelet volume, counts, and function 由 Nicole Soranzo, Augusto Rendon, Christian Gieger, Chris I. Jones, Nicholas A. Watkins, Stephan Menzel, Angela Döring, Jonathan Stephens, Holger Prokisch, Wendy N. Erber, Simon Potter, Sarah Bray, Philippa Burns, Jennifer Jolley, Mario Falchi, Brigitte Kühnel, Jeanette Erdmann, Heribert Schunkert, Nilesh J. Samani, Thomas Illig, Stephen F. Garner, Angela Rankin, Christa Meisinger, John R. Bradley, Swee Lay Thein, Alison H. Goodall, Tim D. Spector, Panos Deloukas, Willem H. Ouwehand

    出版 2009
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  9. 9
    Integrating Genome-Wide Genetic Variations and Monocyte Expression Data Reveals Trans-Regulated Gene Modules in Humans

    Integrating Genome-Wide Genetic Variations and Monocyte Expression Data Reveals Trans-Regulated Gene Modules in Humans 由 Maxime Rotival, Tanja Zeller, Philipp S. Wild, Seraya Maouche, Silke Szymczak, Arne Schillert, Raphaële Castagné, Arne Deiseroth, Carole Proust, Jessy Brocheton, Tiphaine Godefroy, Claire Perret, Marine Germain, Medea Eleftheriadis, Christoph Sinning, Renate B. Schnabel, Edith Lubos, Karl J. Lackner, Heidi Rossmann, Thomas Münzel, Augusto Rendon, Cardiogenics Consortium, Jeanette Erdmann, Panos Deloukas, Christian Hengstenberg, Patrick Diemert, Gilles Montalescot, Willem H. Ouwehand, Nilesh J. Samani, Heribert Schunkert, David‐Alexandre Trégouët, Andreas Ziegler, Alison H. Goodall, François Cambien, Laurence Tiret, Stefan Blankenberg

    出版 2011
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  10. 10
    Insights for precision oncology from the integration of genomic and clinical data of 13,880 tumors from the 100,000 Genomes Cancer Programme

    Insights for precision oncology from the integration of genomic and clinical data of 13,880 tumors from the 100,000 Genomes Cancer Programme 由 Alona Sosinsky, John C. Ambrose, William Cross, Clare Turnbull, Shirley Henderson, J. Louise Jones, Angela Hamblin, Prabhu Arumugam, G. C. Chan, Daniel Chubb, Boris Noyvert, Jonathan Mitchell, Susan Walker, Katy Bowman, Dorota Pasko, M. B. Pereira, Nadezda Volkova, Antonio Rueda-Martin, D. Perez-Gil, Javier Ferreiros, J. Pullinger, Afshan Siddiq, Tala Zainy, Tasnim Choudhury, Olena Yavorska, Tom Fowler, David Bentley, Clare Kingsley, Sandra Hing, Zandra C. Deans, Augusto Rendon, Sue Hill, Mark J. Caulfield, Nirupa Murugaesu

    出版 2024
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  11. 11
    A HaemAtlas: characterizing gene expression in differentiated human blood cells

    A HaemAtlas: characterizing gene expression in differentiated human blood cells 由 Nicholas A. Watkins, Arief Gusnanto, Bernard de Bono, Subhajyoti De, Diego Miranda‐Saavedra, Debbie L. Hardie, Will Angenent, Antony Attwood, Peter Ellis, Wendy N. Erber, Nicola Foad, Stephen F. Garner, Clare M. Isacke, Jennifer Jolley, Kerstin Koch, Iain C. Macaulay, Sarah L. Morley, Augusto Rendon, Kate Rice, Niall Taylor, Daphne C. Thijssen‐Timmer, Marloes R. Tijssen, C. Ellen van der Schoot, Lorenz Wernisch, Thilo Winzer, Frank Dudbridge, Christopher D. Buckley, Cordelia F. Langford, Sarah A. Teichmann, Berthold Göttgens, Willem H. Ouwehand

    出版 2009
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  12. 12
    Human phenotype ontology annotation and cluster analysis to unravel genetic defects in 707 cases with unexplained bleeding and platelet disorders

    Human phenotype ontology annotation and cluster analysis to unravel genetic defects in 707 cases with unexplained bleeding and platelet disorders 由 Sarah K. Westbury, Ernest Turro, Daniel Greene, Claire Lentaigne, Anne M. Kelly, Tadbir K. Bariana, Ilenia Simeoni, Xavier Pillois, Antony Attwood, Steve Austin, Sjoert B.G. Jansen, Tamam Bakchoul, Abi Crisp-Hihn, Wendy N. Erber, Rémi Favier, Nicola Foad, Michael Gattens, Jennifer D. Jolley, Ri Liesner, Stuart Meacham, Carolyn M. Millar, Alan T. Nurden, Kathelijne Peerlinck, David J. Perry, Pawan Poudel, Sol Schulman, Harald Schulze, Jonathan Stephens, Bruce Furie, Peter N. Robinson, Chris Van Geet, Augusto Rendon, Keith Gomez, Michael Laffan, Michele P. Lambert, Paquita Nurden, Willem H. Ouwehand, Sylvia Richardson, Andrew Mumford, Kathleen Freson

    出版 2015
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  13. 13
    A dominant gain-of-function mutation in universal tyrosine kinase <i>SRC</i> causes thrombocytopenia, myelofibrosis, bleeding, and bone pathologies

    A dominant gain-of-function mutation in universal tyrosine kinase <i>SRC</i> causes thrombocytopenia, myelofibrosis, bleeding, and bone pathologies 由 Ernest Turro, Daniel Greene, Anouck Wijgaerts, Chantal Thys, Claire Lentaigne, Tadbir K. Bariana, Sarah K. Westbury, Anne M. Kelly, Dominik Selleslag, Jonathan Stephens, Sofia Papadia, Ilenia Simeoni, Christopher J. Penkett, Sofie Ashford, Antony Attwood, Steve Austin, Tamam Bakchoul, Peter Collins, Sri V. V. Deevi, Rémi Favier, Myrto Kostadima, Michele P. Lambert, Mary Mathias, Carolyn M. Millar, Kathelijne Peerlinck, David J. Perry, Sol Schulman, Deborah Whitehorn, Christine Wittevrongel, Marc De Maeyer, Augusto Rendon, Keith Gomez, Wendy N. Erber, Andrew Mumford, Paquita Nurden, Kathleen Stirrups, John R. Bradley, F. Lucy Raymond, Michael Laffan, Chris Van Geet, Sylvia Richardson, Kathleen Freson, Willem H. Ouwehand

    出版 2016
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  14. 14
    Development and validation of a universal blood donor genotyping platform: a multinational prospective study

    Development and validation of a universal blood donor genotyping platform: a multinational prospective study 由 Nicholas Gleadall, Barbera Veldhuisen, Jeremy Gollub, Adam S. Butterworth, J. Keith Ord, Christopher J. Penkett, Tiffany C. Timmer, Carolin M. Sauer, Nieke van der Bolt, Colin Brown, Kim Brügger, Alexander Dilthey, Daniel Duarte, Shane Grimsley, Katja van den Hurk, J.M. Jongerius, Jessie S. Luken, Karyn Mégy, Gail Miflin, Christopher S. Nelson, Femmeke J. Prinsze, Jennifer Sambrook, Ilenia Simeoni, Michael Sweeting, Nicole Thornton, Sara Trompeter, Salih Tuna, Ram Varma, Matthew R. Walker, John Danesh, David J. Roberts, Willem H. Ouwehand, Kathleen Stirrups, Augusto Rendon, Connie M. Westhoff, Emanuele Di Angelantonio, C. Ellen van der Schoot, William J. Astle, Nicholas A. Watkins, William J. Lane

    出版 2020
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  15. 15
    A gain-of-function variant in DIAPH1 causes dominant macrothrombocytopenia and hearing loss

    A gain-of-function variant in DIAPH1 causes dominant macrothrombocytopenia and hearing loss 由 Simon Stritt, Paquita Nurden, Ernest Turro, Daniel Greene, Sjoert B.G. Jansen, Sarah K. Westbury, R. Petersen, William J. Astle, Sandrine Marlin, Tadbir K. Bariana, Myrto Kostadima, Claire Lentaigne, Stephanie Maiwald, Sofia Papadia, Anne M. Kelly, Jonathan Stephens, Christopher J. Penkett, Sofie Ashford, Salih Tuna, Steve Austin, Tamam Bakchoul, Peter Collins, Rémi Favier, Michele P. Lambert, Mary Mathias, Carolyn M. Millar, Rutendo Mapeta, David J. Perry, Sol Schulman, Ilenia Simeoni, Chantal Thys, Keith Gomez, Wendy N. Erber, Kathleen Stirrups, Augusto Rendon, John R. Bradley, Chris Van Geet, F. Lucy Raymond, Michael Laffan, Alan T. Nurden, Bernhard Nieswandt, Sylvia Richardson, Kathleen Freson, Willem H. Ouwehand, Andrew Mumford

    出版 2016
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  16. 16
    Scaling national and international improvement in virtual gene panel curation via a collaborative approach to discordance resolution

    Scaling national and international improvement in virtual gene panel curation via a collaborative approach to discordance resolution 由 Zornitza Stark, Rebecca E. Foulger, Eleanor Williams, Bryony A. Thompson, Chirag Patel, Sebastian Lunke, Catherine Snow, Ivone Leong, Arina Puzriakova, Louise C. Daugherty, S. E. A. Leigh, C. R. Boustred, Olivia Niblock, Antonio Rueda-Martin, О. М. Герасименко, K. Savage, W. A. Bellamy, Victor San Kho Lin, Roman Valls, Lavinia Gordon, Helen Brittain, Ellen Thomas, Ana Lisa Taylor Tavares, Meriel McEntagart, Susan M. White, Tiong Yang Tan, Alison Yeung, Lilian Downie, Ivan Macciocca, Elena Savva, Crystle Lee, Ain Roesley, Paul De Fazio, Jane Deller, Zandra C. Deans, Sue Hill, Mark J. Caulfield, Kathryn N. North, Richard H. Scott, Augusto Rendon, Oliver Hofmann, Ellen M. McDonagh

    出版 2021
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    Revisão
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  17. 17
    SMIM1 underlies the Vel blood group and influences red blood cell traits

    SMIM1 underlies the Vel blood group and influences red blood cell traits 由 Ana Cvejic, Lonneke Haer‐Wigman, Jonathan Stephens, Myrto Kostadima, Peter A. Smethurst, Mattia Frontini, Emile van den Akker, Paul Bertone, Ewa Bielczyk-Maczyńska, Samantha Farrow, Rudolf S.N. Fehrmann, Alan R. Gray, Masja de Haas, Vincent G. Haver, Gregory E. Jordan, Juha Karjalainen, Hindrik H. D. Kerstens, Graham Kiddle, Heather Lloyd-Jones, Malcolm Needs, Joyce Poole, Aïcha Ait Soussan, Augusto Rendon, Klaus Rieneck, Jennifer G. Sambrook, Hein Schepers, Herman H.W. Silljé, Botond Sipos, Dorine W. Swinkels, Asif U. Tamuri, Niek Verweij, Nicholas A. Watkins, Harm-Jan Westra, Derek L. Stemple, Lude Franke, Nicole Soranzo, Hendrik G. Stunnenberg, Nick Goldman, Pim van der Harst, C. Ellen van der Schoot, Willem H. Ouwehand, Cornelis A. Albers

    出版 2013
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  18. 18
    Germline selection shapes human mitochondrial DNA diversity

    Germline selection shapes human mitochondrial DNA diversity 由 Wei Wei, Salih Tuna, Michael J. Keogh, Katherine R. Smith, Timothy J. Aitman, Phil L. Beales, David Bennett, Daniel P. Gale, Maria Bitner‐Glindzicz, Graeme Black, Paul Brennan, Perry Elliott, Frances Flinter, R. Andres Floto, Henry Houlden, Melita Irving, Ania Koziell, Eamonn R. Maher, Hugh S. Markus, Nicholas W. Morrell, William G. Newman, Irene Roberts, John A. Sayer, Kenneth G. C. Smith, Jenny C. Taylor, Hugh Watkins, Andrew R. Webster, Andrew O.M. Wilkie, Catherine Williamson, Sofie Ashford, Christopher J. Penkett, Kathleen Stirrups, Augusto Rendon, Willem H. Ouwehand, John R. Bradley, F. Lucy Raymond, Mark J. Caulfield, Ernest Turro, Patrick F. Chinnery, Aarnoud Huissoon, Abigail Crisp-Hihn, Adam Shaw, Adam J. Mead, Adam P. Levine, Adrian J. Thrasher, Agnieszka Bierżyńska, Ahamad Hassan, Ajith Kumar, Alba Sanchis‐Juan, Alex Richter, Allan Lawrie, Amy Frary, Andrea H. Németh, Andrea Olschewski, Andreas C. Themistocleous, Andrew C. Browning, Andrew Mumford, Andrew M. Schaefer, Andrew Marshall, Andrew O.M. Wilkie, Andrew Peacock, Andrew R. Harper, Andrew R. Webster, Andrew S.C. Rice, Angela Pyle, Ania Koziell, Anna M. Drazyk, Anne M. Kelly, Annette Wagner, Anthony Attwood, Anthony De Soyza, Anthony M. Vandersteen, Anthony T. Moore, Anton Vonk Noordegraaf, Anupama Rao, Archana Herwadkar, Arjan C. Houweling, Arjune Sen, Augusto Rendon, Austen Worth, Barbara Girerd, Bella Madan, Brian T. Wilson, Carmen Bugarin Diz, Carmen Treacy, Carole Brewer, Carolyn Campbell, Carolyn M. Millar, Catherine Roughley, Catherine Titterton, Catherine Williamson, Cecilia Compton, Cesare Danesino, Chantal Thys, Charaka Hadinnapola, Charu Deshpande, Cheng‐Hock Toh, Chris Van Geet, Christian Babbs, C. Geoffrey Woods

    出版 2019
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  19. 19
    Platelet function is modified by common sequence variation in megakaryocyte super enhancers

    Platelet function is modified by common sequence variation in megakaryocyte super enhancers 由 R. Petersen, John Lambourne, Biola M. Javierre, Luigi Grassi, Roman Kreuzhuber, Dace Ruklisa, Isabel M. Rosa, Ana R. Tomé, Heather Elding, Johanna P. van Geffen, Tao Jiang, Samantha Farrow, Jonathan Cairns, Abeer M. Al‐Subaie, Sofie Ashford, Antony Attwood, Joana Batista, Heleen Bouman, Frances Burden, Fizzah Choudry, Laura Clarke, Paul Flicek, Stephen F. Garner, Matthias Haimel, Carly Kempster, Vasileios Ladopoulos, An‐Sofie Lenaerts, Paulina M. Materek, Harriet McKinney, Stuart Meacham, Daniel G. Mead, Magdolna Nagy, Christopher J. Penkett, Augusto Rendon, Denis Seyres, Benjamin B. Sun, Salih Tuna, Marie-Elise van der Weide, Steven W. Wingett, Joost H.A. Martens, Oliver Stegle, Sylvia Richardson, Ludovic Vallier, David J. Roberts, Kathleen Freson, Lorenz Wernisch, Hendrik G. Stunnenberg, John Danesh, Peter Fraser, Nicole Soranzo, Adam S. Butterworth, Johan W. M. Heemskerk, Ernest Turro, Mikhail Spivakov, Willem H. Ouwehand, William J. Astle, Kate Downes, Myrto Kostadima, Mattia Frontini

    出版 2017
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  20. 20
    Whole-genome sequencing of patients with rare diseases in a national health system

    Whole-genome sequencing of patients with rare diseases in a national health system 由 Ernest Turro, William J. Astle, Karyn Mégy, Stefan Gräf, Daniel Greene, Olga Shamardina, Hana Lango Allen, Alba Sanchis‐Juan, Mattia Frontini, Chantal Thys, Jonathan Stephens, Rutendo Mapeta, Oliver S. Burren, Kate Downes, Matthias Haimel, Salih Tuna, Sri V. V. Deevi, Timothy J. Aitman, David Bennett, Paul Calleja, Keren Carss, Mark J. Caulfield, Patrick F. Chinnery, Peter H. Dixon, Daniel P. Gale, Roger James, Ania Koziell, Michael Laffan, Adam P. Levine, Eamonn R. Maher, Hugh S. Markus, Joannella Morales, Nicholas W. Morrell, Andrew Mumford, Elizabeth Ormondroyd, Stuart Rankin, Augusto Rendon, Sylvia Richardson, Irene Roberts, Noémi Roy, Moin A. Saleem, Kenneth G. C. Smith, Hannah Stark, Rhea Tan, Andreas C. Themistocleous, Adrian J. Thrasher, Hugh Watkins, Andrew R. Webster, Martin R. Wilkins, Catherine Williamson, James W. Whitworth, Sean Humphray, David Bentley, Nathalie Kingston, Neil Walker, John R. Bradley, Sofie Ashford, Christopher J. Penkett, Kathleen Freson, Kathleen Stirrups, F. Lucy Raymond, Willem H. Ouwehand

    出版 2021
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