Genetics

  • A novel locus for exertional dyspnoea in childhood asthma
    Sanghun Lee, Jessica Ann Lasky-Su, Christoph Lange, Wonji Kim, Preeti Lakshman Kumar, Merry-Lynn N. McDonald, Carlos A. Vaz Fragoso, Cecelia Laurie, Benjamin A. Raby, Juan C. Celedón, Michael H. Cho, Sungho Won, Scott T. Weiss, Julian Hecker
    European Respiratory Journal Feb 2021, 57 (2) 2001224; DOI: 10.1183/13993003.01224-2020
  • Functional assessment and phenotypic heterogeneity of SFTPA1 and SFTPA2 mutations in interstitial lung diseases and lung cancer
    Marie Legendre, Afifaa Butt, Raphaël Borie, Marie-Pierre Debray, Diane Bouvry, Emilie Filhol-Blin, Tifenn Desroziers, Valérie Nau, Bruno Copin, Florence Dastot-Le Moal, Mélanie Héry, Philippe Duquesnoy, Nathalie Allou, Anne Bergeron, Julien Bermudez, Aurélie Cazes, Anne-Laure Chene, Vincent Cottin, Bruno Crestani, Jean-Charles Dalphin, Christine Dombret, Bérénice Doray, Clairelyne Dupin, Violaine Giraud, Anne Gondouin, Laurent Gouya, Dominique Israël-Biet, Caroline Kannengiesser, Aurélie Le Borgne, Sylvie Leroy, Elisabeth Longchampt, Gwenaël Lorillon, Hilario Nunes, Clément Picard, Martine Reynaud-Gaubert, Julie Traclet, Paul de Vuyst, Aurore Coulomb L'Hermine, Annick Clement, Serge Amselem, Nadia Nathan
    European Respiratory Journal Dec 2020, 56 (6) 2002806; DOI: 10.1183/13993003.02806-2020
  • The undiagnosed disease burden associated with alpha-1 antitrypsin deficiency genotypes
    Tomoko Nakanishi, Vincenzo Forgetta, Tomohiro Handa, Toyohiro Hirai, Vincent Mooser, G. Mark Lathrop, William O.C.M. Cookson, J. Brent Richards
    European Respiratory Journal Dec 2020, 56 (6) 2001441; DOI: 10.1183/13993003.01441-2020
  • Phenotype and outcome of pulmonary arterial hypertension patients carrying a TBX4 mutation
    Pierre Thoré, Barbara Girerd, Xavier Jaïs, Laurent Savale, Maria-Rosa Ghigna, Mélanie Eyries, Marilyne Levy, Caroline Ovaert, Amélie Servettaz, Anne Guillaumot, Claire Dauphin, Céline Chabanne, Emmanuel Boiffard, Vincent Cottin, Frédéric Perros, Gérald Simonneau, Olivier Sitbon, Florent Soubrier, Damien Bonnet, Martine Remy-Jardin, Ari Chaouat, Marc Humbert, David Montani
    European Respiratory Journal May 2020, 55 (5) 1902340; DOI: 10.1183/13993003.02340-2019
  • Mendelian randomisation analysis of red cell distribution width in pulmonary arterial hypertension
    Anna Ulrich, John Wharton, Timothy E. Thayer, Emilia M. Swietlik, Tufik R. Assad, Ankit A. Desai, Stefan Gräf, Lars Harbaum, Marc Humbert, Nicholas W. Morrell, William C. Nichols, Florent Soubrier, Laura Southgate, David-Alexandre Trégouët, Richard C. Trembath, Evan L. Brittain, Martin R. Wilkins, Inga Prokopenko, Christopher J. Rhodes
    European Respiratory Journal Feb 2020, 55 (2) 1901486; DOI: 10.1183/13993003.01486-2019
  • The pharmacogenomics of inhaled corticosteroids and lung function decline in COPD
    Ma'en Obeidat, Alen Faiz, Xuan Li, Maarten van den Berge, Nadia N. Hansel, Philippe Joubert, Ke Hao, Corry-Anke Brandsma, Nicholas Rafaels, Rasika Mathias, Ingo Ruczinski, Terri H. Beaty, Kathleen C. Barnes, S.F. Paul Man, Peter D. Paré, Don D. Sin
    European Respiratory Journal Dec 2019, 54 (6) 1900521; DOI: 10.1183/13993003.00521-2019
  • The role of the 17q21 genotype in the prevention of early childhood asthma and recurrent wheeze by vitamin D
    Rachel S. Kelly, Bo L. Chawes, Feng Guo, Li Zhang, Kevin Blighe, Augusto A. Litonjua, Benjamin A. Raby, Bruce D. Levy, Daniela Rago, Jakob Stokholm, Klaus Bønnelykke, Hans Bisgaard, Xiaobo Zhou, Jessica A. Lasky-Su, Scott T. Weiss
    European Respiratory Journal Oct 2019, 54 (4) 1900761; DOI: 10.1183/13993003.00761-2019
  • Genetic analyses in a cohort of children with pulmonary hypertension
    Marilyne Levy, Mélanie Eyries, Isabelle Szezepanski, Magalie Ladouceur, Sophie Nadaud, Damien Bonnet, Florent Soubrier
    European Respiratory Journal Oct 2016, 48 (4) 1118-1126; DOI: 10.1183/13993003.00211-2016
  • Pulmonary arteriole gene expression signature in idiopathic pulmonary fibrosis
    Nina M. Patel, Steven M. Kawut, Sanja Jelic, Selim M. Arcasoy, David J. Lederer, Alain C. Borczuk
    European Respiratory Journal Jun 2013, 41 (6) 1324-1330; DOI: 10.1183/09031936.0084112
  • Genome-wide association analysis reveals 12q13.3–q14.1 as new risk locus for sarcoidosis
    Sylvia Hofmann, Annegret Fischer, Michael Nothnagel, Gunnar Jacobs, Benjamin Schmid, Michael Wittig, Andre Franke, Karoline I. Gaede, Manfred Schürmann, Martin Petrek, Frantisek Mrazek, Stefan Pabst, Christian Grohé, Johan Grunewald, Marcus Ronninger, Anders Eklund, Philip Rosenstiel, Kerstin Höhne, Gernot Zissel, Joachim Müller-Quernheim, Stefan Schreiber
    European Respiratory Journal Apr 2013, 41 (4) 888-900; DOI: 10.1183/09031936.00033812

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