Torthaí cuardaigh - Eva Serra

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  1. 1
    <i>DUOX2</i>/<i>DUOXA2</i> Mutations Frequently Cause Congenital Hypothyroidism that Evades Detection on Newborn Screening in the United Kingdom

    <i>DUOX2</i>/<i>DUOXA2</i> Mutations Frequently Cause Congenital Hypothyroidism that Evades Detection on Newborn Screening in the United Kingdom de réir Catherine Peters, Adeline K. Nicholas, Erik Schoenmakers, Greta Lyons, Shirley Langham, Eva Serra, Neil J. Sebire, Marina Muzza, Laura Fugazzola, Nadia Schoenmakers

    Foilsithe / Cruthaithe 2019
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  2. 2
    Homozygous loss-of-function mutations in SLC26A7 cause goitrous congenital hypothyroidism

    Homozygous loss-of-function mutations in SLC26A7 cause goitrous congenital hypothyroidism de réir Hakan Cangül, Xiao-Hui Liao, Erik Schoenmakers, Jukka Kero, Sharon Barone, Panudda Srichomkwun, Hideyuki Iwayama, Eva Serra, Halil Sağlam, Erdal Eren, Ömer Tarım, Adeline K. Nicholas, Ilona Zvetkova, Carl A. Anderson, Fiona E. Karet, Kristien Boelaert, Marja Ojaniemi, Jarmo Jääskeläinen, Konrad Patyra, Christoffer Löf, E. D. Williams, Manoocher Soleimani, Timothy Barrett, Eamonn R. Maher, Krishna Chatterjee, Samuel Refetoff, Nadia Schoenmakers

    Foilsithe / Cruthaithe 2018
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  3. 3
    Exploring the genetic architecture of inflammatory bowel disease by whole-genome sequencing identifies association at ADCY7

    Exploring the genetic architecture of inflammatory bowel disease by whole-genome sequencing identifies association at ADCY7 de réir Yang Luo, Katrina M. de Lange, Luke Jostins, Loukas Moutsianas, Joshua C. Randall, Nicholas A. Kennedy, Christopher A Lamb, Shane McCarthy, Tariq Ahmad, Cathryn Edwards, Eva Serra, Ailsa Hart, C J Hawkey, John Mansfield, Craig Mowat, William G. Newman, Sam Nichols, Martin Pollard, Jack Satsangi, Alison Simmons, Mark Tremelling, Holm H. Uhlig, David C. Wilson, James Lee, Natalie J. Prescott, Charlie W. Lees, Christopher G. Mathew, Miles Parkes, Jeffrey C. Barrett, Carl A. Anderson

    Foilsithe / Cruthaithe 2017
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  4. 4
    Comprehensive Screening of Eight Known Causative Genes in Congenital Hypothyroidism With Gland-in-Situ

    Comprehensive Screening of Eight Known Causative Genes in Congenital Hypothyroidism With Gland-in-Situ de réir Adeline K. Nicholas, Eva Serra, Hakan Cangül, Saif Al-Yaarubi, Irfan Ullah, Erik Schoenmakers, Asma Deeb, Abdelhadi Habeb, Mohammad S. Al-Maghamsi, Catherine Peters, Nisha Nathwani, Zehra Aycan, Halil Sağlam, Ece Böber, Mehul Dattani, Savitha Shenoy, Philip Murray, Amir Babiker, Ruben H. Willemsen, Ajay Thankamony, Greta Lyons, Rachael Irwin, Raja Padidela, Kavitha Tharian, Justin H. Davies, Vijith Puthi, Soo‐Mi Park, Ahmed F. Massoud, John W Gregory, Assunta Albanese, Evelien Pease-Gevers, Howard Martin, Kim Brügger, Eamonn R. Maher, Krishna Chatterjee, Carl A. Anderson, Nadia Schoenmakers

    Foilsithe / Cruthaithe 2016
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  5. 5
    Monoallelic and Biallelic Mutations in MAB21L2 Cause a Spectrum of Major Eye Malformations

    Monoallelic and Biallelic Mutations in MAB21L2 Cause a Spectrum of Major Eye Malformations de réir Joe Rainger, Davut Pehli̇van, Stefan Johansson, Hemant Bengani, Luis Sánchez‐Pulido, Kathleen A. Williamson, Mehmet Türe, Heather Barker, Karen Rosendahl, Jürgen W. Spranger, Denise Horn, Alison Meynert, James Floyd, Trine Prescott, Carl A. Anderson, Jacqueline K. Rainger, Ender Karaca, Claudia Gonzaga‐Jauregui, Shalini N. Jhangiani, Donna M. Muzny, Anne Seawright, Dinesh C. Soares, Mira Kharbanda, Victoria Murday, Andrew J. Finch, Richard A. Gibbs, Veronica van Heyningen, Martin S. Taylor, Tahsin Yakut, Per M. Knappskog, Matthew E. Hurles, Chris P. Ponting, James R. Lupski, Gunnar Houge, David Fitzpatrick, Matthew E. Hurles, David Fitzpatrick, Saeed Al-Turki, Carl A. Anderson, Inês Barroso, Philip L. Beales, Jamie Bentham, Shoumo Bhattacharya, Keren Carss, Krishna Chatterjee, Sebhattin Cirak, Catherine Cosgrove, Allan Daly, Jamie Floyd, Chris Franklin, Marta Futema, Steve E. Humphries, Shane McCarthy, Hannah M. Mitchison, Francesco Muntoni, Alexandros Onoufriadis, Victoria Parker, Felicity Payne, Vincent Plagnol, Lucy Raymond, David B. Savage, Peter Scambler, Miriam Schmidts, Robert K. Semple, Eva Serra, Jim Stalker, Margriet van Kogelenberg, Parthiban Vijayarangakannan, Klaudia Walter, G Black Wood

    Foilsithe / Cruthaithe 2014
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  6. 6
    X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3

    X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3 de réir Chiara Olcese, Mitali Patel, Amelia Shoemark, Santeri Kiviluoto, Marie Legendre, Hywel Williams, Cara K. Vaughan, Jane Hayward, Alice Goldenberg, Richard D. Emes, Mustafa M. Munye, Laura A. Dyer, Thomas J. Cahill, Jeremy Bevillard, Corinne Gehrig, Michel Guipponi, Sandra Chantot‐Bastaraud, Philippe Duquesnoy, Lucie Thomas, Ludovic Jeanson, Bruno Copin, Aline Tamalet, Christel Thauvin‐Robinet, Jean‐François Papon, Antoine Garin, Isabelle Pin, Gabriella Vera, Paul Aurora, Mahmoud R. Fassad, Lucy Jenkins, C. R. Boustred, Thomas Cullup, Mellisa Dixon, Alexandros Onoufriadis, Andrew Bush, Eddie M.K. Chung, Stylianos E. Antonarakis, Michael R. Loebinger, Robert Wilson, M Armengot, Estelle Escudier, Claire Hogg, Saeed Al-Turki, Carl A. Anderson, Dinu Antony, Inês Barroso, Philip L. Beales, Jamie Bentham, Shoumo Bhattacharya, Keren Carss, Krishna Chatterjee, Sebahattin Çirak, Catherine Cosgrove, D. Allan, Richard Durbin, David Fitzpatrick, Jamie Floyd, A. Reghan Foley, Chris Franklin, Marta Futema, Steve E. Humphries, Matt Hurles, Shane McCarthy, Dawn Muddyman, Francesco Muntoni, Victoria Parker, Felicity Payne, Vincent Plagnol, Lucy Raymond, David B. Savage, Peter Scambler, Miriam Schmidts, Robert K. Semple, Eva Serra, Jim Stalker, Margriet van Kogelenberg, Parthiban Vijayarangakannan, Klaudia Walter, Serge Amselem, Zhaoxia Sun, Lucia Bartoloni, Jean-Louis Blouin, Hannah M. Mitchison

    Foilsithe / Cruthaithe 2017
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  7. 7
    Somatic mosaicism and common genetic variation contribute to the risk of very-early-onset inflammatory bowel disease

    Somatic mosaicism and common genetic variation contribute to the risk of very-early-onset inflammatory bowel disease de réir Eva Serra, Tobias Schwerd, Loukas Moutsianas, Athena Cavounidis, Laura Fachal, Sumeet Pandey, Jochen Kammermeier, Nicholas M. Croft, Carsten Posovszky, Astor Rodrigues, Richard K. Russell, Farah M. Barakat, Marcus Auth, Robert Heuschkel, Matthias Zilbauer, Krzysztof Fyderek, Christian Braegger, Simon Travis, Jack Satsangi, Miles Parkes, Nikhil Thapar, Helen Ferry, Julie C. Matte, Kimberly Gilmour, Andrzej Wędrychowicz, Peter Sullivan, Carmel Moore, Jennifer Sambrook, Willem H. Ouwehand, David J. Roberts, John Danesh, Toni A. Baeumler, Tudor A. Fulga, Eli M. Carrami, Ahmed A. Ahmed, Rachel Wilson, Jeffrey C. Barrett, Abdul Elkadri, Anne M. Griffiths, Marlen Zurek, Caterina Strisciuglio, Mamoun Elawad, Bernice Lo, Carolina V. Arancibia-Cárcamo, Adam Bailey, Eleanor Barnes, Elizabeth Bird‐Lieberman, Oliver Brain, Barbara Braden, Jane Collier, James E. East, Lucy Howarth, Satish Keshav, Paul Klenerman, Simon J. Leedham, Rebecca Palmer, Fiona Powrie, Alison Simmons, Matthew R. Walker, Zoe Tolkien, Stephen Kaptoge, David L. Allen, Susan Mehenny, Jonathan Mant, Emanuele Di Angelantonio, Simon G. Thompson, Bahtiyar Yılmaz, Pascal Juillerat, Markus B. Geuking, Reiner Wiest, Andrew J. Macpherson, Francisco Bravo, Lukas Brügger, Ove Carstens, Ulrike Graf Bigler, Benjamin Heimgartner, Monica Rusticeanu, Sybille Schmid, Bruno Strebel, Aurora Tatu, Radu Țuțuian, Reiner Wiest, Ove Øyås, Charlotte Ramon, Jörg Stelling, Yannick Franc, Nicolas Fournier, Valérie Pittet, Bernard Burnand, Mara Egger, Yannick Franc, Delphine Golay, Astrid Marot, Leilla Musso, Valérie Pittet, Jean‐Benoît Rossel, Vivianne Seematter, Joachim R. Sommer, Rachel Vulliamy, Pierre Michetti

    Foilsithe / Cruthaithe 2020
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  8. 8
    An organelle-specific protein landscape identifies novel diseases and molecular mechanisms

    An organelle-specific protein landscape identifies novel diseases and molecular mechanisms de réir Karsten Boldt, Jeroen van Reeuwijk, Qianhao Lu, Konstantinos Koutroumpas, Thanh-Minh T. Nguyen, Yves Texier, Sylvia E. C. van Beersum, Nicola Horn, Jason R. Willer, Dorus A. Mans, Gerard W. Dougherty, Ideke J.C. Lamers, Karlien L. M. Coene, Heleen H. Arts, Matthew J. Betts, Tina Beyer, Emine Bolat, Christian Johannes Gloeckner, Khatera Haidari, Lisette Hetterschijt, Daniela Iaconis, Dagan Jenkins, Franziska Klose, Barbara Knapp, Brooke Latour, Stef J. F. Letteboer, Carlo Marcelis, Dragana Mitic, Manuela Morleo, Machteld M. Oud, Moniek Riemersma, Susan Rix, Paulien A. Terhal, Grischa Toedt, Teunis J. P. van Dam, Erik de Vrieze, Yasmin Wissinger, Ka Man Wu, Gordana Apic, Philip L. Beales, Oliver E. Blacque, Toby J. Gibson, Martijn A. Huynen, Nicholas Katsanis, Hannie Kremer, Heymut Omran, Erwin van Wijk, Uwe Wolfrum, François Képès, Erica E. Davis, Brunella Franco, Rachel H. Giles, Marius Ueffing, Robert B. Russell, Ronald Roepman, Saeed Al-Turki, Carl E. Anderson, Dinu Antony, Inês Barroso, Jamie Bentham, Shoumo Bhattacharya, Keren Carss, Krishna Chatterjee, Sebahattin Çirak, Catherine Cosgrove, Petr Danecek, Richard Durbin, David Fitzpatrick, Jamie Floyd, A. Reghan Foley, Chris Franklin, Marta Futema, Steve E. Humphries, Matt Hurles, Christopher Joyce, Shane McCarthy, Hannah M. Mitchison, Dawn Muddyman, Francesco Muntoni, Stephen O’Rahilly, Alexandros Onoufriadis, Felicity Payne, Vincent Plagnol, Lucy Raymond, David B. Savage, Peter Scambler, Miriam Schmidts, Nadia Schoenmakers, Robert K. Semple, Eva Serra, Jim Stalker, Margriet van Kogelenberg, Parthiban Vijayarangakannan, Klaudia Walter, Ros Whittall, Kathy Williamson

    Foilsithe / Cruthaithe 2016
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