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Analyses of 1236 genotyped primary ciliary dyskinesia individuals identify regional clusters of distinct DNA variants and significant genotype–phenotype correlations

  • Johanna Raidt
  • , Sarah Riepenhausen
  • , Petra Pennekamp
  • , Heike Olbrich
  • , Israel Amirav
  • , Rodrigo A. Athanazio
  • , Micha Aviram
  • , Juan E. Balinotti
  • , Ophir Bar-On
  • , Sebastian F.N. Bode
  • , Mieke Boon
  • , Melissa Borrelli
  • , Siobhan B. Carr
  • , Suzanne Crowley
  • , Eleonora Dehlink
  • , Sandra Diepenhorst
  • , Peter Durdik
  • , Bernd Dworniczak
  • , Nagehan Emiralioğlu
  • , Ela Erdem
  • Rossella Fonnesu, Serena Gracci, Jörg Große-Onnebrink, Karolina Gwozdziewicz, Eric G. Haarman, Christine R. Hansen, Claire Hogg, Mathias G. Holgersen, Eitan Kerem Robert W. Körner, Karsten Kötz, Panayiotis Kouis, Michael R. Loebinger, Natalie Lorent, Jane S. Lucas, Debora Maj, Marcus A. Mall, June K. Marthin, Vendula Martinu, Henryk Mazurek, Hannah M. Mitchison, Tabea Nöthe-Menchen, Ugur Özçelik, Massimo Pifferi, Andrzej Pogorzelski, Felix C. Ringshausen, Jobst F. Roehmel, Sandra Rovira-Amigo, Nisreen Rumman, Anne Schlegtendal, Amelia Shoemark, Synne Sperstad Kennelly, Ben O. Staar, Sivagurunathan Sutharsan, Simon Thomas, Nicola Ullmann, Julian Varghese, Sandra von Hardenberg, Woolf T. Walker, Martin Wetzke, Michal Witt, Panayiotis Yiallouros, Anna Zschocke, Ewa Ziętkiewicz, Kim G. Nielsen, Heymut Omran*
*Corresponding author for this work
  • Department of General Pediatrics
  • University of Münster
  • Institute of Medical Informatics
  • University of Alberta
  • Pulmonary Division – Heart Institute
  • Hospital das Clínicas da Faculdade de São Paulo
  • Pediatric Pulmonary Unit
  • Soroka Medical Center
  • Ben-Gurion University of the Negev
  • Respiratory Center
  • Hospital de Niños Dr. Ricardo Gutiérrez
  • Consejo Nacional de Investigaciones Científicas y Técnicas
  • Schneider Childrens Medical Center Israel
  • Center for Pediatrics
  • University of Freiburg
  • Department of Pediatrics and Adolescent Medicine
  • Ulm University
  • Dept of Paediatrics
  • KU Leuven
  • Department of Translational Medical Science
  • University of Naples Federico II
  • Department of Paediatric Respiratory Medicine
  • Royal Brompton and Harefield NHS Foundation Trust
  • Paediatric Dept of Allergy and Lung Diseases
  • University of Oslo
  • Division of Pediatric Pulmonology
  • Medical University of Vienna
  • Department of Pediatric Respiratory Medicine and Allergy
  • University of Amsterdam
  • Department of Paediatrics
  • Comenius University
  • Pediatric Pulmonology
  • Hacettepe University
  • Dept of Pediatric Pulmonology
  • Marmara University
  • TIN Toscane Online
  • Azienda Ospedaliero Universitaria Pisana
  • Dept of Pneumonology and Cystic Fibrosis
  • Institute of Tuberculosis and Lung Diseases
  • Department of Pediatrics
  • Lund University
  • Section for Lung Medicine
  • Department of Peadiatrics and Adolescent Medicine
  • University of Copenhagen
  • Department of Pediatrics and Pediatric Pulmonology
  • Hadassah University Medical Centre
  • Department of Paediatrics
  • University of Cologne
  • Pediatric Uro-Nephrologic Center
  • Sahlgrenska University Hospital
  • Respiratory Physiology Laboratory
  • University of Cyprus
  • Department of Respiratory Diseases
  • Department Chrometa
  • Clinical and Experimental Sciences
  • University of Southampton
  • Primary Ciliary Dyskinesia Centre
  • University Hospital Southampton NHS Foundation Trust
  • Department of Pediatric Respiratory Medicine
  • Charité – Universitätsmedizin Berlin
  • German Center for Lung Research (DZL)
  • Berlin Institute of Health
  • Department of Paediatrics
  • Charles University
  • Great Ormond Street Institute of Child Health
  • University College London
  • Dept of Respiratory Medicine
  • Hannover Medical School
  • German Centre of Lung Research (DZL)
  • Pediatric Department
  • Autonomous University of Barcelona
  • Centro de Investigación Biomédica en Red
  • Department of Pediatrics
  • Al-Quds University
  • Section of Pulmonary
  • Yale University
  • Ruhr University Bochum
  • University of Dundee
  • Department of Pulmonary Medicine
  • University of Duisburg-Essen
  • Wessex Regional Genetics Laboratory
  • Salisbury NHS Foundation Trust
  • Department of Human Genetics and Genomic Medicine
  • Pneumology and Cystic Fibrosis Unit
  • IRCCS Ospedale pediatrico Bambino Gesù - Roma
  • Department of Human Genetics
  • Department of Paediatric Pneumology
  • German Center for Lung Research (DZL)
  • Institute of Human Genetics of the Polish Academy of Sciences
  • Pediatric Pulmonology Unit
  • Archbishop Makarios III Hospital
  • Department of Pediatric and Adolescent Medicine
  • Innsbruck Medical University
  • Department of Clinical Medicine

Research output: Contribution to journal › Article › peer-review

72 Scopus citations

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Biochemistry, Genetics and Molecular Biology