检索结果 - Kathleen Stirrups

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  1. 1
    Abnormal differentiation of B cells and megakaryocytes in patients with Roifman syndrome

    Abnormal differentiation of B cells and megakaryocytes in patients with Roifman syndrome 由 Jessica Heremans, Josselyn E. Garcia‐Perez, Ernest Turro, Susan Schlenner, Ingele Casteels, Roxanne Collin, Francis de Zegher, Daniel Greene, Stéphanie Humblet‐Baron, Sylvie Lesage, Patrick Matthys, Christopher J. Penkett, Karen Put, Kathleen Stirrups, Chantal Thys, Chris Van Geet, Erika Van Nieuwenhove, Carine Wouters, Isabelle Meyts, Kathleen Freson, Adrian Liston

    出版 2018
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  2. 2
    Complex structural variants in Mendelian disorders: identification and breakpoint resolution using short- and long-read genome sequencing

    Complex structural variants in Mendelian disorders: identification and breakpoint resolution using short- and long-read genome sequencing 由 Alba Sanchis‐Juan, Jonathan Stephens, Courtney E. French, Nicholas Gleadall, Karyn Mégy, Christopher J. Penkett, Olga Shamardina, Kathleen Stirrups, Isabelle Delon, Eleanor Dewhurst, Helen Dolling, Marie Erwood, Detelina Grozeva, Luca Stefanucci, Gavin Arno, Andrew R. Webster, Trevor Cole, Topun Austin, Ricardo Garcia Branco, Willem H. Ouwehand, F. Lucy Raymond, Keren Carss

    出版 2018
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  3. 3
    Large-Scale Whole-Genome Sequencing Reveals the Genetic Architecture of Primary Membranoproliferative GN and C3 Glomerulopathy

    Large-Scale Whole-Genome Sequencing Reveals the Genetic Architecture of Primary Membranoproliferative GN and C3 Glomerulopathy 由 Adam P. Levine, Melanie Chan, Omid Sadeghi‐Alavijeh, Edwin Wong, H. Terence Cook, Sofie Ashford, Keren Carss, Martin Christian, Matthew Hall, Claire L. Harris, Paul McAlinden, Kevin J. Marchbank, Stephen D. Marks, Heather Maxwell, Karyn Mégy, Christopher J. Penkett, Monika Mozere, Kathleen Stirrups, Salih Tuna, Julie Wessels, Deborah Whitehorn, Sally Johnson, Daniel P. Gale

    出版 2020
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  4. 4
    Rare variants in GP1BB are responsible for autosomal dominant macrothrombocytopenia

    Rare variants in GP1BB are responsible for autosomal dominant macrothrombocytopenia 由 Suthesh Sivapalaratnam, Sarah K. Westbury, Jonathan Stephens, Daniel Greene, Kate Downes, Anne M. Kelly, Claire Lentaigne, William J. Astle, Eric G. Huizinga, Paquita Nurden, Sofia Papadia, Kathelijne Peerlinck, Christopher J. Penkett, David J. Perry, Catherine Roughley, Ilenia Simeoni, Kathleen Stirrups, Daniel P. Hart, Robert C. Tait, Andrew Mumford, Michael Laffan, Kathleen Freson, Willem H. Ouwehand, Shinji Kunishima, Ernest Turro

    出版 2016
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  5. 5
    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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  6. 6
    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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  7. 7
    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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  8. 8
    Prevalence and clinical challenges among adults with primary immunodeficiency and recombination-activating gene deficiency

    Prevalence and clinical challenges among adults with primary immunodeficiency and recombination-activating gene deficiency 由 Dylan Lawless, Christoph B. Geier, Jocelyn R. Farmer, Hana Lango Allen, Daniel Thwaites, Faranaz Atschekzei, Matthew A. Brown, David Buchbinder, Siobhan O. Burns, Manish J. Butte, Krisztián Csomós, Sri V. V. Deevi, William Egner, Stephan Ehl, Martha M. Eibl, Olajumoke Fadugba, Zsófia Földvári, Deanna Green, Sarah E. Henrickson, Steven M. Holland, Tami John, Christian Klemann, Taco W. Kuijpers, Fernando Moreira, Alexander Piller, Paula Rayner-Matthews, Neil Romberg, Ravishankar Sargur, Reinhold E. Schmidt, Claudia Schröder, Catharina Schuetz, Svetlana O. Sharapova, Kenneth G. C. Smith, Georgios Sogkas, Carsten Speckmann, Kathleen Stirrups, Adrian J. Thrasher, Hermann M. Wolf, Luigi D. Notarangelo, Rashida Anwar, Joan Boyes, Boglárka Ujházi, James Thaventhiran, Jolán E. Walter, Sinisa Savic

    出版 2018
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  9. 9
    The Metabochip, a Custom Genotyping Array for Genetic Studies of Metabolic, Cardiovascular, and Anthropometric Traits

    The Metabochip, a Custom Genotyping Array for Genetic Studies of Metabolic, Cardiovascular, and Anthropometric Traits 由 Benjamin F. Voight, Hyun Min Kang, Jun Ding, Cameron D. Palmer, Carlo Sidore, Peter S. Chines, Noël P. Burtt, Christian Fuchsberger, Yanming Li, Jeanette Erdmann, Timothy M. Frayling, Iris M. Heid, Anne Jackson, Toby Johnson, Tuomas O. Kilpeläinen, Cecilia M. Lindgren, Andrew P. Morris, Inga Prokopenko, Joshua C. Randall, Richa Saxena, Nicole Soranzo, Elizabeth K. Speliotes, Tanya M. Teslovich, Eleanor Wheeler, Jared Maguire, Melissa Parkin, Simon Potter, Nigel W. Rayner, Neil Robertson, Kathleen Stirrups, Wendy Winckler, Serena Sanna, Antonella Mulas, Ramaiah Nagaraja, Francesco Cucca, Inês Barroso, Panos Deloukas, Ruth J. F. Loos, Sekar Kathiresan, Patricia B. Munroe, Christopher Newton‐Cheh, Arne Pfeufer, Nilesh J. Samani, Heribert Schunkert, Joel N. Hirschhorn, David Altshuler, Mark I. McCarthy, Gonçalo R. Abecasis, Michael Boehnke

    出版 2012
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  10. 10
    Correction: The Metabochip, a Custom Genotyping Array for Genetic Studies of Metabolic, Cardiovascular, and Anthropometric Traits

    Correction: The Metabochip, a Custom Genotyping Array for Genetic Studies of Metabolic, Cardiovascular, and Anthropometric Traits 由 Benjamin F. Voight, Hyun Min Kang, Jun Ding, Cameron D. Palmer, Carlo Sidore, Peter S. Chines, Noà l P. Burtt, Christian Fuchsberger, Yanming Li, Jeanette Erdmann, Timothy M. Frayling, Iris M. Heid, Anne Jackson, Toby Johnson, Tuomas O. Kilpeläinen, Cecilia M. Lindgren, Andrew P. Morris, Inga Prokopenko, Joshua C. Randall, Richa Saxena, Nicole Soranzo, Elizabeth K. Speliotes, Tanya M. Teslovich, Eleanor Wheeler, Jared Maguire, Melissa Parkin, Simon Potter, Nigel W. Rayner, Neil Robertson, Kathleen Stirrups, Wendy Winckler, Serena Sanna, Antonella Mulas, Ramaiah Nagaraja, Francesco Cucca, Inês Barroso, Panos Deloukas, Ruth J. F. Loos, Sekar Kathiresan, Patricia B. Munroe, Christopher Newton‐Cheh, Arne Pfeufer, Nilesh J. Samani, Heribert Schunkert, Joel N. Hirschhorn, David Altshuler, Mark I. McCarthy, Gonçalo R. Abecasis, Michael Boehnke

    出版 2013
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  11. 11
    Coding Variation in<i>ANGPTL4,</i><i>LPL,</i>and<i>SVEP1</i>and the Risk of Coronary Disease

    Coding Variation in<i>ANGPTL4,</i><i>LPL,</i>and<i>SVEP1</i>and the Risk of Coronary Disease 由 Nathan O. Stitziel, Kathleen Stirrups, Nicholas G. D. Masca, Jeanette Erdmann, Paola G. Ferrario, Inke R. König, Peter Weeke, Tom R. Webb, Paul L. Auer, Ursula M. Schick, Yingchang Lu, He Zhang, Marie‐Pierre Dubé, Anuj Goel, Martin Farrall, Gina M. Peloso, Hong‐Hee Won, Ron Do, Erik P.A. van Iperen, Stavroula Kanoni, Jochen Kruppa, Anubha Mahajan, Robert A. Scott, Christina Willenberg, Peter S. Braund, Julian C. van Capelleveen, Alex S. F. Doney, Louise A. Donnelly, Rosanna Asselta, Piera Angelica Merlini, Stefano Duga, Nicola Marziliano, Joshua C. Denny, Christian M. Shaffer, Nour Eddine El Mokhtari, Andre Franke, Omri Gottesman, Stefanie Heilmann‐Heimbach, Christian Hengstenberg, Per Hoffman, Oddgeir L. Holmen, Kristian Hveem, Jan‐Håkan Jansson, Karl‐Heinz Jöckel, Thorsten Kessler, Jennifer Kriebel, Karl‐Ludwig Laugwitz, Eirini Marouli, Nicola Martinelli, Børge G. Nordestgaard, Tibor V. Varga

    出版 2016
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  12. 12
    Mutations in the small nuclear RNA gene RNU2-2 cause a severe neurodevelopmental disorder with prominent epilepsy

    Mutations in the small nuclear RNA gene RNU2-2 cause a severe neurodevelopmental disorder with prominent epilepsy 由 Daniel Greene, Koenraad De Wispelaere, Jonathan Lees, Marta Codina‐Solà, Brynjar Ö. Jensson, Emma Hales, Andrea Katrinecz, Esther Molina, Sónia Pascoal, Rolph Pfundt, Rachel Schot, Marta Sevilla Porras, Frank Sleutels, Irene Valenzuela, Robin Wijngaard, I. Arroyo Carrera, Giles Atton, Dídac Casas‐Alba, Deirdre E. Donnelly, Anna Duat Rodríguez, Barbara Fernández Garoz, Nicola Foulds, D. Nunez, Elena González Alguacil, Joanna Jarvis, Sarina G. Kant, Irene Madrigal, Antonio F. Martinez-Monseny, Shane McKee, Nelmar Valentina Ortiz‐Cabrera, Leslie Bodi, Andrea Sariego Jamardo, Kāri Stefánsson, Patrick Sulem, Mohnish Suri, Clara D.M. van Karnebeek, Pradeep Vasudevan, Ana Isabel Vega Pajares, Ángel Carracedo, Marc Engelen, Pablo Lapunzina, Natasha P. Morgan, Beatriz Morte, Patrick Rump, Kathleen Stirrups, Eduardo F. Tizzano, Tahsin Stefan Barakat, Michael O’Donoghue, Luis A. Pérez‐Jurado, Kathleen Freson, Andrew Mumford, Ernest Turro

    出版 2025
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  13. 13
    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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  14. 14
    Meta-Analysis Investigating Associations Between Healthy Diet and Fasting Glucose and Insulin Levels and Modification by Loci Associated With Glucose Homeostasis in Data From 15 Cohorts

    Meta-Analysis Investigating Associations Between Healthy Diet and Fasting Glucose and Insulin Levels and Modification by Loci Associated With Glucose Homeostasis in Data From 15 Co... 由 Jennifer A. Nettleton, Marie‐France Hivert, Rozenn N. Lemaître, Nicola M. McKeown, Dariush Mozaffarian, Toshiko Tanaka, Mary K. Wojczynski, Adela Hruby, Luc Djoussé, Julius S. Ngwa, Jack L. Follis, Maria Dimitriou, Andrea Ganna, Denise K. Houston, Stavroula Kanoni, Vera Mikkilä, Ani Manichaikul, Ιωάννα Ντάλλα, Frida Renström, Emily Sonestedt, Frank J.A. van Rooij, Stefania Bandinelli, Lawrence de Koning, Ulrika Ericson, Neelam Hassanali, Jessica C. Kiefte‐de Jong, Kurt K. Lohman, Olli T. Raitakari, Constantina Papoutsakis, Per Sjögren, Kathleen Stirrups, Erika Ax, Panos Deloukas, Christopher J. Groves, Paul F. Jacques, Ingegerd Johansson, Yongmei Liu, Mark I. McCarthy, Kari E. North, Jorma Viikari, M. Carola Zillikens, Josée Dupuis, Albert Hofman, Genovefa Kolovou, Kenneth J. Mukamal, Inga Prokopenko, Olov Rolandsson, Ilkka Seppälä, L. Adrienne Cupples, Frank B. Hu, Mika Kähönen, André G. Uitterlinden, Ingrid B. Borecki, Luigi Ferrucci, David R. Jacobs, Stephen B. Kritchevsky, Marju Orho‐Melander, James S. Pankow, Terho Lehtimäki, Jacqueline C.M. Witteman, Erik Ingelsson, David S. Siscovick, George Dedoussis, James B. Meigs, Paul W. Franks

    出版 2012
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  15. 15
    Gene × dietary pattern interactions in obesity: analysis of up to 68 317 adults of European ancestry

    Gene × dietary pattern interactions in obesity: analysis of up to 68 317 adults of European ancestry 由 Jennifer A. Nettleton, Jack L. Follis, Julius S. Ngwa, Caren E. Smith, Shafqat Ahmad, Toshiko Tanaka, Mary K. Wojczynski, Trudy Voortman, Rozenn N. Lemaître, Kati Kristiansson, Marja-Liisa Nuotio, Denise K. Houston, Mia-Maria Perälä, Qibin Qi, Emily Sonestedt, Ani Manichaikul, Stavroula Kanoni, Andrea Ganna, Vera Mikkilä, Kari E. North, David S. Siscovick, Kennet Harald, Nicola M. McKeown, Ingegerd Johansson, Harri Rissanen, Yongmei Liu, Jari Lahti, Frank B. Hu, Stefania Bandinelli, Gull Rukh, Stephen S. Rich, Lisanne Booij, Maria Dmitriou, Erika Ax, Olli T. Raitakari, Kenneth J. Mukamal, Satu Männistö, Göran Hallmans, Antti Jula, Ulrika Ericson, David R. Jacobs, Frank J.A. van Rooij, Panos Deloukas, Per Sjögren, Mika Kähönen, Luc Djoussé, Markus Perola, Inês Barroso, Albert Hofman, Kathleen Stirrups, Jorma Viikari, André G. Uitterlinden, Ioanna Panagiota Kalafati, Oscar H. Franco, Dariush Mozaffarian, Veikko Salomaa, Ingrid B. Borecki, Paul Knekt, Stephen B. Kritchevsky, Johan G. Eriksson, George Dedoussis, Lu Qi, Luigi Ferrucci, Marju Orho‐Melander, M. Carola Zillikens, Erik Ingelsson, Terho Lehtimäki, Frida Renström, L. Adrienne Cupples, Ruth J. F. Loos, Paul W. Franks

    出版 2015
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  16. 16
    Genome-wide meta-analysis of observational studies shows common genetic variants associated with macronutrient intake

    Genome-wide meta-analysis of observational studies shows common genetic variants associated with macronutrient intake 由 Toshiko Tanaka, Julius S. Ngwa, Frank J.A. van Rooij, M. Carola Zillikens, Mary K. Wojczynski, Alexis C. Wood, Denise K. Houston, Stavroula Kanoni, Rozenn N. Lemaître, Jian’an Luan, Vera Mikkilä, Frida Renström, Emily Sonestedt, Wei Zhao, Audrey Y. Chu, Lu Qi, Daniel I. Chasman, Marcia C. de Oliveira Otto, Emily J. Dhurandhar, Mary F. Feitosa, Ingegerd Johansson, Kay‐Tee Khaw, Kurt K. Lohman, Ani Manichaikul, Nicola M. McKeown, Dariush Mozaffarian, Andrew B. Singleton, Kathleen Stirrups, Jorma Viikari, Ye Zheng, Stefania Bandinelli, Inês Barroso, Panos Deloukas, Nita G. Forouhi, Albert Hofman, Yongmei Liu, Leo‐Pekka Lyytikäinen, Kari E. North, Maria Dimitriou, Göran Hallmans, Mika Kähönen, Claudia Langenberg, José M. Ordovás, André G. Uitterlinden, Frank B. Hu, Ioanna Panagiota Kalafati, Olli T. Raitakari, Oscar H. Franco, Andrew D. Johnson, Valur Emilsson, Jennifer A. Schrack, Richard D. Semba, David S. Siscovick, Donna K. Arnett, Ingrid B. Borecki, Paul W. Franks, Stephen B. Kritchevsky, Terho Lehtimäki, Ruth J. F. Loos, Marju Orho‐Melander, Jerome I. Rotter, Nicholas J. Wareham, Jacqueline C.M. Witteman, Luigi Ferrucci, George Dedoussis, L. Adrienne Cupples, Jennifer A. Nettleton

    出版 2013
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  17. 17
    Large-scale association analysis provides insights into the genetic architecture and pathophysiology of type 2 diabetes

    Large-scale association analysis provides insights into the genetic architecture and pathophysiology of type 2 diabetes 由 Andrew P. Morris, Benjamin F. Voight, Tanya M. Teslovich, Teresa Ferreira, Ayellet V. Segrè, Valgerður Steinthórsdóttir, Rona J. Strawbridge, Hassan Khan, Harald Grallert, Anubha Mahajan, Inga Prokopenko, Hyun Min Kang, Christian Dina, Tõnu Esko, Ross M. Fraser, Stavroula Kanoni, Ashish Kumar, Vasiliki Lagou, Claudia Langenberg, Jian’an Luan, Cecilia M. Lindgren, Martina Müller‐Nurasyid, Sonali Pechlivanis, Nigel W. Rayner, Laura J. Scott, Steven Wiltshire, Loïc Yengo, Leena Kinnunen, Elizabeth J. Rossin, Soumya Raychaudhuri, Andrew D. Johnson, Antigone S. Dimas, Ruth J. F. Loos, Sailaja Vedantam, Han Chen, José C. Florez, Caroline S. Fox, Yongmei Liu, Denis Rybin, David Couper, Wen Hong Linda Kao, Man Li, Marilyn C. Cornelis, Peter Kraft, Qi Sun, Rob M. van Dam, Heather M. Stringham, Peter S. Chines, Krista Fischer, Pierre Fontanillas, Oddgeir L. Holmen, Sarah Hunt, Anne Jackson, Augustine Kong, Robert Lawrence, Julia Meyer, John R. B. Perry, Carl Platou, Simon Potter, Emil Rehnberg, Neil Robertson, Suthesh Sivapalaratnam, Alena Stančáková, Kathleen Stirrups, Guðmar Þorleifsson, Emmi Tikkanen, Andrew R. Wood, Peter Almgren, Mustafa Atalay, Rafn Benediktsson, Lori L. Bonnycastle, Noël P. Burtt, Jason Carey, G. Charpentier, Andrew Crenshaw, Alex S. F. Doney, Mozhgan Dorkhan, Sarah Edkins, Valur Emilsson, Elodie Eury, Tom Forsén, Karl Gertow, Bruna Gigante, George Grant, Christopher J. Groves, Candace Guiducci, Christian Herder, Ástráður B. Hreiðarsson, Jennie Hui, Anthony James, Anna Jonsson, Wolfgang Rathmann, Norman Klopp, Jasmina Kravić, Kaarel Krjutškov, Cordelia Langford, Karin Leander, Eero Lindholm, Stéphane Lobbens, Satu Männistö

    出版 2012
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  18. 18
    Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease

    Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease 由 Keren Carss, Gavin Arno, Marie Erwood, Jonathan Stephens, Alba Sanchis-Juan, Sarah Hull, Karyn Mégy, Detelina Grozeva, Eleanor Dewhurst, Samantha Malka, Vincent Plagnol, Christopher J. Penkett, Kathleen Stirrups, Roberta Rizzo, Genevieve Wright, Dragana Josifova, Maria Bitner‐Glindzicz, Richard H. Scott, Emma Clement, Louise Allen, Ruth Armstrong, Angela F. Brady, Jenny Carmichael, Manali Chitre, Robert Henderson, Jane A. Hurst, Robert E. MacLaren, Elaine Murphy, Joan Paterson, Elisabeth Rosser, Dorothy Thompson, Emma Wakeling, Willem H. Ouwehand, Michel Michaelides, Anthony T. Moore, Andrew R. Webster, F. Lucy Raymond, Timothy J. Aitman, Hana Alachkar, Sonia Ali, Louise Allen, David Allsup, Gautum Ambegaonkar, Julie Anderson, Richard Antrobus, Ruth Armstrong, Gavin Arno, Gururaj Arumugakani, Sofie Ashford, William F. Astle, Antony Attwood, Steve Austin, Chiara Bacchelli, Tamam Bakchoul, Tadbir K. Bariana, Helen Baxendale, David Bennett, Claire Bethune, Shahnaz Bibi, Maria Bitner‐Glindzicz, Marta Bleda, Harm Boggard, Paula Bolton‐Maggs, Claire Booth, John R. Bradley, Angie Brady, Matthew A. Brown, Michael J. Browning, Christine Bryson, Siobhán O. Burns, Paul Calleja, Natalie Canham, Jenny Carmichael, Keren Carss, Mark J. Caulfield, Elizabeth Chalmers, Anita Chandra, Patrick F. Chinnery, Manali Chitre, Colin Church, Emma Clement, Emma Clement, Virginia Clowes, Gerry Coghlan, Peter Collins, Nichola Cooper, Amanda Creaser-Myers, Rosa DaCosta, Louise C. Daugherty, Sophie Davies, John S. Davis, Minka De Vries, Patrick Deegan, Sri V. V. Deevi, Charu Deshpande, Lisa Devlin, Eleanor Dewhurst, Rainer Döffinger, Natalie Dormand, Elizabeth Drewe

    出版 2016
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  19. 19
    Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor Phenotypes

    Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor Phenotypes 由 James Whitworth, Philip Smith, José-Ezequiel Martín, Hannah D. West, Andrea Luchetti, Faye Rodger, Graeme M. Clark, Keren Carss, Jonathan Stephens, Kathleen Stirrups, Chris Penkett, Rutendo Mapeta, Sofie Ashford, Karyn Mégy, Hassan Shakeel, Munaza Ahmed, Julian Adlard, Julian Barwell, Carole Brewer, Ruth Casey, Ruth Armstrong, Trevor Cole, D. Gareth Evans, Florentia Fostira, Lynn Greenhalgh, Helen Hanson, Alex Henderson, Jonathan Hoffman, Louise Izatt, Ajith Kumar, Ava Kwong, Fiona Lalloo, Kai Ren Ong, Joan Paterson, Soo‐Mi Park, Rakefet Chen‐Shtoyerman, Claire Searle, Lucy Side, Anne‐Bine Skytte, Katie Snape, Emma R. Woodward, Timothy J. Aitman, Hana Alachkar, Sonia Ali, Louise Allen, David Allsup, Gautum Ambegaonkar, Julie Anderson, Richard Antrobus, Ruth Armstrong, Gavin Arno, Gururaj Arumugakani, Sofie Ashford, William F. Astle, Antony Attwood, Steve Austin, Chiara Bacchelli, Tamam Bakchoul, Tadbir K. Bariana, Helen Baxendale, David Bennett, Claire Bethune, Shahnaz Bibi, Maria Bitner‐Glindzicz, Marta Bleda, Harm Boggard, Paula Bolton‐Maggs, Claire Booth, John R. Bradley, Angie Brady, Matthew A. Brown, Michael J. Browning, Christine Bryson, Siobhán O. Burns, Paul Calleja, Natalie Canham, Jenny Carmichael, Keren Carss, Mark J. Caulfield, Elizabeth Chalmers, Anita Chandra, Patrick F. Chinnery, Manali Chitre, Colin Church, Emma Clement, Emma Clement, Virginia Clowes, Gerry Coghlan, Peter Collins, Victoria Cookson, Nichola Cooper, Paul A. Corris, Amanda Creaser-Myers, Rosa DaCosta, Louise C. Daugherty, Sophie Davies, John S. Davis, Minka De Vries, Patrick Deegan, Sri V. V. Deevi

    出版 2018
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  20. 20
    Whole-genome sequencing of a sporadic primary immunodeficiency cohort

    Whole-genome sequencing of a sporadic primary immunodeficiency cohort 由 James Thaventhiran, Hana Lango Allen, Oliver S. Burren, William Rae, Daniel Greene, Emily Staples, Zinan Zhang, James H. R. Farmery, Ilenia Simeoni, Elizabeth Rivers, Jesmeen Maimaris, Christopher J. Penkett, Jonathan Stephens, Sri V. V. Deevi, Alba Sanchis‐Juan, Nicholas Gleadall, Moira Thomas, Ravishankar Sargur, Pavels Gordins, Helen Baxendale, Matthew A. Brown, Paul Tuijnenburg, Austen Worth, Steven Hanson, Rachel Linger, Matthew Buckland, Paula Rayner-Matthews, Kimberly Gilmour, Crina Samarghitean, Suranjith L. Seneviratne, David M. Sansom, Andy G. Lynch, Karyn Mégy, Eva Ellinghaus, David Ellinghaus, Silje F. Jørgensen, Tom H. Karlsen, Kathleen Stirrups, Antony J. Cutler, Dinakantha Kumararatne, Anita Chandra, David Edgar, Archana Herwadkar, Nichola Cooper, Sofia Grigoriadou, Aarnoud Huissoon, Sarah Goddard, Stephen Jolles, Catharina Schuetz, Felix Boschann, Stephen Abbs, Zoe Adhya, Julian Adlard, Maryam Afzal, Irshad Ahmed, Munaza Ahmed, Saeed Ahmed, Timothy J. Aitman, Hana Alachkar, Jayanthi Alamelu, Raza Alikhan, Carl E. Allen, Louise Allen, David Allsup, Arif Alvi, Gautam Ambegaonkar, Ariharan Anantharachagan, Philip Ancliff, Julie A. Anderson, Richard Antrobus, Ruth Armstrong, Gavin Arno, Gururaj Arumugakani, Rita Arya, Sofie Ashford, William J. Astle, Anthony Attwood, Steve Austin, Yeşim Aydınok, Waqar Ayub, Christian Babbs, Chiara Bacchelli, Trevor Baglin, Tamam Bakchoul, Tadbir K. Bariana, Jonathan Barratt, Julian Barwell, John Baski, Rachel W. Bates, Joana Batista, Helen Baxendale, Gareth Baynam, David Bennett, Claire Bethune, Neha Bhatnagar, Shahnaz Bibi, Agnieszka Bierżyńska, Tina Biss, Maria Bitner‐Glindzicz, Marta Bleda

    出版 2020
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