Defining the clinical validity of genes reported to cause pulmonary arterial hypertension.

Address: Department of Pediatrics, Columbia University Irving Medical Center, New York, NY.; Division of Pulmonary, Critical Care, Sleep and Occupational Medicine, Indiana University School of Medicine, IN.; Department of Genetics, University Medical Centre Utrecht, Utrecht University, Utrecht, the Netherlands.; Center for Pulmonary Hypertension, Thoraxklinik-Heidelberg gGmbH, at Heidelberg University Hospital and Translational Lung Research Center, German Center for Lung Research, Heidelberg, Germany; Laboratory for Molecular Genetic Diagnostics, Institute of Human Genetics, Heidelberg University, Heidelberg, Germany.; NIHR BioResource for Translational Research - Rare Diseases, Department of Haemotology, University of Cambridge, Cambridge Biomedical Campus, Cambridge, United Kingdom; Department of Medicine, School of Clinical Medicine, University of Cambridge, Cambridge Biomedical Campus, Cambridge, United Kingdom.; Department of Human Genetics, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands.; Molecular and Clinical Sciences Research Institute, St George's University of London, London, United Kingdom.; Department of Medicine, School of Clinical Medicine, University of Cambridge, Cambridge Biomedical Campus, Cambridge, United Kingdom.; Department of Medicine, School of Clinical Medicine, University of Cambridge, Cambridge Biomedical Campus, Cambridge, United Kingdom; St. George's University Hospitals NHS Foundation Trust, London, United Kingdom.; Institute of Medical and Molecular Genetics (INGEMM), Hospital Universitario La Paz, IDiPAZ, Universidad Autonoma de Madrid, Madrid, Spain; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, Madrid, Spain; ITHACA, European Reference Network, Brussels, Belgium.; Department of Pediatrics, Columbia University Irving Medical Center, New York, NY; Department of Medicine, Columbia University Irving Medical Center, New York, NY. Electronic address: [email protected].; Department of Pediatrics, Columbia University Irving Medical Center, New York, NY, USA.; Indiana University School of Medicine, Indianapolis, IN, USA.; GeneDx, Gaithersburg, MD, USA.; Department of Medicine, Queen's University, Kingston, Ontario, Canada.; Department of Medicine, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK.; Vanderbilt University Department of Pediatrics, Division of Allergy, Immunology, and Pulmonary Medicine, Nashville, TN, USA.; Pulmonary Hypertension Unit, Department of Cardiovascular and Respiratory Sciences, Sapienza University of Rome, Italy.; Department of Pulmonary Medicine, Hospital Clinic-IDIBAPS, University of Barcelona, Barcelona and Biomedical Research Networking Center on Respiratory Diseases (CIBERES), Spain.; Laboratory of Respiratory Diseases & Thoracic Surgery (BREATHE), Department of Chronic Diseases & Metabolism (CHROMETA), Clinical Department of Respiratory Diseases, University Hospitals, University of Leuven, 3000 Leuven, Belgium.; Department of Lung Disease, Amsterdam UMC (location VUmc), Amsterdam, the Netherlands.; Pulmonary Hypertension Research Group, Centre de Recherche de l'Institut de Cardiologie et de Pneumologie de Quebec, Quebec City, QC, Canada; Department of Medicine, Université Laval, Quebec City, Quebec, Canada.; Department of Pulmonary Medicine, Erasmus MC, University Medical Center Rotterdam, the Netherlands.; Department of Medicine, Université Laval, Quebec City, Quebec, Canada; Pulmonary Hypertension and Vascular Biology Research Group, Institut Universitaire de Cardiologie et de Pneumologie de Québec, Department of Medicine, Université Laval, Quebec City, Quebec, Canada.; Division of Pulmonary and Critical Care Medicine, Department of Medicine, Washington University School of Medicine, St. Louis, MO, USA.; Department of Infection, Immunity & Cardiovascular Disease, University of Sheffield, UK; Royal Hallamshire Hospital, Sheffield, UK.; Division of Pulmonary and Critical Care Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA.; Department of Pneumology, University Hospital Leuven, Leuven, Belgium.; Indiana University, Indianapolis, IN, USA.; Department of Pulmonology, Faculty of Medicine, University of Warmia and Mazury in Olsztyn, Olsztyn, Poland.; Pulmonary and Critical Care Divisions, Intermountain Medical Center, Murray, UT, USA.; Département de Génétique, AP-HP, Hôpital Pitié-Salpêtrière, Paris, France; INSERM UMRS 1166, Sorbonne Université and Institute for Cardiometabolism and Nutrition (ICAN), Paris, France.; Department of Cardiology, Hospital Universitario 12 de Octubre, Madrid, Spain; Ciber-CV, Centro de investigación Biomédica en Red de Enfermedades Cardiovasculares, Madrid, Spain; Centro de Referencia Nacional de Hipertensión Pulmonar Compleja and ERN-Lung-Pulmonary Hypertension Referal Center, Madrid, Spain; Instituto de Investigación Sanitaria del Hospital Universitario 12 de Octubre (Imas12), Red SAMID, Madrid, Spain.; Justus-Liebig University, Excellence Cluster Cardio-Pulmonary Institute (CPI) and Universities of Giessen and Marburg Lung Center (UGMLC), Member of the German Center for Lung Research (DZL), Giessen, Germany.; Division of Cardiology, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy.; Justus-Liebig University, Excellence Cluster Cardio-Pulmonary Institute (CPI) and Universities of Giessen and Marburg Lung Center (UGMLC), Member of the German Center for Lung Research (DZL), Giessen, Germany; Department of Medicine, Imperial College London, London, UK.; Center for Pulmonary Hypertension, Thoraxklinik Heidelberg gGmbH at Heidelberg University Hospital, Heidelberg, Germany and Translational Lung Research Center Heidelberg (TLRC), German Center for Lung Research (DZL), Heidelberg, Germany.; Department of Pediatrics, Vanderbilt University School of Medicine, Nashville, TN, USA.; National Heart and Lung Institute, Imperial College London, London, UK.; Division of Allergy, Pulmonary and Critical Care Medicine, Vanderbilt University School of Medicine, Nashville, TN, USA.; Laboratory of Molecular Genetic Diagnostics, Institute of Human Genetics, Heidelberg University, Heidelberg, Germany.; Faculté de Médecine, Université Paris-Sud and Université Paris-Saclay, Le Kremlin-Bicêtre, France; INSERM UMR_S 999, Hôpital Marie Lannelongue, Le Plessis-Robinson, France; AP-HP, Service de Pneumologie, Centre de Référence de l'Hypertension Pulmonaire Sévère, Département Hospitalo-Universitaire (DHU) Thorax Innovation (TORINO), Hôpital de Bicêtre, Le Kremlin-Bicêtre, France.; Sheffield Pulmonary Vascular Disease Unit, Royal Hallamshire Hospital, Sheffield, UK.; Center for Pulmonary Vascular Disease, Cardiology Division, Jewish General Hospital and McGill University, Montreal, QC, Canada.; Department of Infection, Immunity & Cardiovascular Disease, University of Sheffield, UK.; Vanderbilt University Medical Center, Nashville, TN, USA.; Great Ormond Street Hospital, London, UK.; INSERM UMR_S 999, Hôpital Marie Lannelongue, Le Plessis-Robinson, France; Université Paris-Saclay, AP-HP, French Referral Center for Pulmonary Hypertension, Pulmonary Department, Hôpital de Bicêtre, Le Kremlin-Bicêtre, France.; Department of Medicine, University of Cambridge, UK; Department of Haematology, University of Cambridge, Cambridge, UK.; Division of Human Genetics, Department of Pediatrics, Cincinnati Children's Hospital Medical Center, University of Cincinnati College of Medicine, Cincinnati, OH, USA.; Ludwig Boltzmann Institute for Lung Vascular research, Graz, Austria.; Ludwig Boltzmann Institute for Lung Vascular research, Graz, Austria; Medical University of Graz, Graz, Austria.; Department of Medicine, Imperial College London, London, UK.; Medical University of Graz, Graz, Austria.; Department of Medicine, University of Cambridge, UK.; Ottawa Hospital Research Institute, Sinclair Centre for Regenerative Medicine and the University of Ottawa, Ontario, Canada.; Department of Pulmonary, Allergy and Critical Care Medicine, Stanford University, Stanford, CA, USA; Department of Medical and Molecular Genetics, King's College London, London, UK; Department of Pulmonary Medicine, Hospital Clínic-Institut d'Investigacions Biomèdiques August Pi I Sunyer (IDIBAPS), University of Barcelona, Spain.; Biomedical Research Networking center on Respiratory diseases (CIBERES), 28029 Madrid, Spain.; Department of Pulmonary Medicine, Dr. Josep Trueta University Hospital de Girona, Santa Caterina Hospital de Salt and the Girona Biomedical Research Institute (IDIBGI), Girona, Catalonia, Spain.; Department of Pulmonology, Amsterdam Cardiovascular Sciences, Amsterdam UMC, VU University Medical Center, Amsterdam, the Netherlands.