Deep phenotyping of unaffected carriers of pathogenic BMPR2 variants screened for pulmonary arterial hypertension
Eszter N. Tóth, Lucas R. Celant, Marili Niglas, Samara Jansen, Jelco Tramper, Nicoleta Baxan, Ali Ashek, Jeroen N. Wessels, J. Tim Marcus, Lilian J. Meijboom, Arjan C. Houweling, Esther J. Nossent, Jurjan Aman, Julien Grynblat, Frédéric Perros, David Montani, Anton Vonk Noordegraaf, Lan Zhao, Frances S. de Man, Harm Jan Bogaard
European Respiratory Journal 2024; DOI: 10.1183/13993003.00442-2024
Eszter N. Tóth
1Amsterdam UMC location Vrije Universiteit Amsterdam, Department of Pulmonary Medicine, Amsterdam, the Netherlands
2Amsterdam Cardiovascular Sciences, Pulmonary Hypertension and Thrombosis, Amsterdam, the Netherlands
10Contributed equally
Lucas R. Celant
1Amsterdam UMC location Vrije Universiteit Amsterdam, Department of Pulmonary Medicine, Amsterdam, the Netherlands
2Amsterdam Cardiovascular Sciences, Pulmonary Hypertension and Thrombosis, Amsterdam, the Netherlands
10Contributed equally
Marili Niglas
3Imperial College London, National Heart and Lung Institute, London, U.K
Samara Jansen
1Amsterdam UMC location Vrije Universiteit Amsterdam, Department of Pulmonary Medicine, Amsterdam, the Netherlands
2Amsterdam Cardiovascular Sciences, Pulmonary Hypertension and Thrombosis, Amsterdam, the Netherlands
Jelco Tramper
1Amsterdam UMC location Vrije Universiteit Amsterdam, Department of Pulmonary Medicine, Amsterdam, the Netherlands
2Amsterdam Cardiovascular Sciences, Pulmonary Hypertension and Thrombosis, Amsterdam, the Netherlands
Nicoleta Baxan
3Imperial College London, National Heart and Lung Institute, London, U.K
Ali Ashek
3Imperial College London, National Heart and Lung Institute, London, U.K
Jeroen N. Wessels
1Amsterdam UMC location Vrije Universiteit Amsterdam, Department of Pulmonary Medicine, Amsterdam, the Netherlands
2Amsterdam Cardiovascular Sciences, Pulmonary Hypertension and Thrombosis, Amsterdam, the Netherlands
J. Tim Marcus
2Amsterdam Cardiovascular Sciences, Pulmonary Hypertension and Thrombosis, Amsterdam, the Netherlands
4Amsterdam UMC location Vrije Universiteit Amsterdam, Department of Radiology and Nuclear Medicine, Amsterdam, the Netherlands
Lilian J. Meijboom
2Amsterdam Cardiovascular Sciences, Pulmonary Hypertension and Thrombosis, Amsterdam, the Netherlands
4Amsterdam UMC location Vrije Universiteit Amsterdam, Department of Radiology and Nuclear Medicine, Amsterdam, the Netherlands
Arjan C. Houweling
5Amsterdam UMC location AMC, Department of Human Genetics, Amsterdam, the Netherlands
Esther J. Nossent
1Amsterdam UMC location Vrije Universiteit Amsterdam, Department of Pulmonary Medicine, Amsterdam, the Netherlands
Jurjan Aman
1Amsterdam UMC location Vrije Universiteit Amsterdam, Department of Pulmonary Medicine, Amsterdam, the Netherlands
Julien Grynblat
6INSERM UMR_S 999 ‘Pulmonary Hypertension: Pathophysiology and Novel Therapies’, Marie Lannelongue Hospital and Bicêtre Hospital, Le Plessis-Robinson, France, AP-HP, Department of Respiratory and Intensive Care Medicine, Pulmonary Hypertension National Referral Center, Bicêtre Hospital, Le Kremlin-Bicêtre, France
7Université Paris-Saclay, School of Medicine Gif-sur-Yvette, Gif-sur-Yvette, France
8M3C-Necker, Hôpital Necker-Enfants Malades, AP-HP, Université de Paris Cité, Cardiologie Congénitale et Pédiatrique, Paris, France
Frédéric Perros
9CarMeN Laboratory, INSERM U1060, INRAE U1397, Université Claude Bernard Lyon 1, Pierre-Bénite, France
David Montani
6INSERM UMR_S 999 ‘Pulmonary Hypertension: Pathophysiology and Novel Therapies’, Marie Lannelongue Hospital and Bicêtre Hospital, Le Plessis-Robinson, France, AP-HP, Department of Respiratory and Intensive Care Medicine, Pulmonary Hypertension National Referral Center, Bicêtre Hospital, Le Kremlin-Bicêtre, France
7Université Paris-Saclay, School of Medicine Gif-sur-Yvette, Gif-sur-Yvette, France
Anton Vonk Noordegraaf
1Amsterdam UMC location Vrije Universiteit Amsterdam, Department of Pulmonary Medicine, Amsterdam, the Netherlands
2Amsterdam Cardiovascular Sciences, Pulmonary Hypertension and Thrombosis, Amsterdam, the Netherlands
Lan Zhao
3Imperial College London, National Heart and Lung Institute, London, U.K
Frances S. de Man
2Amsterdam Cardiovascular Sciences, Pulmonary Hypertension and Thrombosis, Amsterdam, the Netherlands
Harm Jan Bogaard
1Amsterdam UMC location Vrije Universiteit Amsterdam, Department of Pulmonary Medicine, Amsterdam, the Netherlands
2Amsterdam Cardiovascular Sciences, Pulmonary Hypertension and Thrombosis, Amsterdam, the Netherlands
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Vol 64 Issue 3
Table of Contents
Deep phenotyping of unaffected carriers of pathogenic BMPR2 variants screened for pulmonary arterial hypertension
Eszter N. Tóth, Lucas R. Celant, Marili Niglas, Samara Jansen, Jelco Tramper, Nicoleta Baxan, Ali Ashek, Jeroen N. Wessels, J. Tim Marcus, Lilian J. Meijboom, Arjan C. Houweling, Esther J. Nossent, Jurjan Aman, Julien Grynblat, Frédéric Perros, David Montani, Anton Vonk Noordegraaf, Lan Zhao, Frances S. de Man, Harm Jan Bogaard
European Respiratory Journal Jan 2024, 2400442; DOI: 10.1183/13993003.00442-2024
Deep phenotyping of unaffected carriers of pathogenic BMPR2 variants screened for pulmonary arterial hypertension
Eszter N. Tóth, Lucas R. Celant, Marili Niglas, Samara Jansen, Jelco Tramper, Nicoleta Baxan, Ali Ashek, Jeroen N. Wessels, J. Tim Marcus, Lilian J. Meijboom, Arjan C. Houweling, Esther J. Nossent, Jurjan Aman, Julien Grynblat, Frédéric Perros, David Montani, Anton Vonk Noordegraaf, Lan Zhao, Frances S. de Man, Harm Jan Bogaard
European Respiratory Journal Jan 2024, 2400442; DOI: 10.1183/13993003.00442-2024