ArticleThe European respiratory journal2023
Genetic counselling and testing in pulmonary arterial hypertension: a consensus statement on behalf of the International Consortium for Genetic Studies in PAH.
Open access · bronzeAbstract readConsensus Statement
In one paragraph
Article in The European respiratory journal, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 33 papers.
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33citing papers in PubMed
7.1field-weighted citation impact, top 2% of its field
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Who cites it
33 citing papers in PubMed, 50 citations in OpenAlex.
- Variant Class-Specific Phenotypes and Outcomes in Pediatric TBX4-Associated Pulmonary Hypertension.Pediatric pulmonology · 2026Article
- An Ancient Founder GDF2 Variant Potentially Causes Semi-Dominant Non-Syndromic Pulmonary Arterial Hypertension.Clinical genetics · 2026Article
- ImpairedERJ open research · 2026Article
- Atrial Septal Defect Closure With Persistently Elevated Pulmonary Vascular Resistance.JACC. Case reports · 2026Article
- Heritable pulmonary arterial hypertension: new genetic findings and environmental triggers.Scientific reports · 2026Article
- Risk stratification and multidisciplinary management strategies for pregnancy complicated by pulmonary arterial hypertension: a narrative review.Frontiers in endocrinology · 2026Review
- Drugs and toxins associated with pulmonary arterial hypertension: from established culprits to novel threats.ERJ open research · 2025Review
- Cobalamin C deficiency: a rare but treatable genetic cause of pulmonary hypertension.Orphanet journal of rare diseases · 2025Article
- The genetic epidemiology and genotype-phenotype correlations among Chinese children with idiopathic and heritable pulmonary arterial hypertension.Respiratory research · 2025Article
- An unprecedented pathology in a 20-year-old with progressive dyspnoea and parenchymal infiltrates.Breathe (Sheffield, England) · 2025Article
- Pathogenic SMAD6 variants in patients with idiopathic and complex congenital heart disease associated pulmonary arterial hypertension.NPJ genomic medicine · 2025Article
- Implementing pulmonary arterial hypertension screening amongERJ open research · 2025Article
- Navigating family dynamics and ethical considerations in genetic diagnosis of pulmonary arterial hypertension: insights from in-depth semi-structured interviews.ERJ open research · 2025Article
- SMAD5 as a novel gene for familial pulmonary arterial hypertension.Clinical science (London, England : 1979) · 2025Article
- Precision Medicine for Pulmonary Vascular Disease: The Future Is Now (2023 Grover Conference Series).Pulmonary circulation · 2025Article
- A case report of 'Two-Hit' digenic mutations in PAH: role of PADN in management.Frontiers in pharmacology · 2025Article
- Adaptation of ACMG/AMP Guidelines for Clinical Classification ofHuman mutation · 2025Article
- Case report: A finding of PVOD and PAH in first degree relatives suggests shared heritable risk and overlapping features of both pulmonary vascular diseases.Respirology case reports · 2024Article
- Pulmonary hypertension in adults with congenital heart defects (ACHDs)-in light of the 2022 ESC PAH guidelines-part I: definition, epidemiology, classification, diagnostics, genetics, risk stratification and follow-up, gender aspects.Cardiovascular diagnosis and therapy · 2024Review
- Deep phenotyping of unaffected carriers of pathogenicThe European respiratory journal · 2024Article
Corrections and comments
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Authors and funding
12 authors at 7 institutions in 6 countries.
Christina A EichstaedtCenter for Pulmonary Hypertension, Thoraxklinik Heidelberg gGmbH at Heidelberg University Hospital, Heidelberg, Germany.
Catharina BelgeLaboratory of Respiratory Diseases and Thoracic Surgery (BREATHE), Department of Chronic Diseases and Metabolism (CHROMETA), Clinical Department of Respiratory Diseases, University Hospitals, University of Leuven, Leuven, Belgium.
Wendy K ChungDepartment of Pediatrics, Columbia University Irving Medical Center, New York, NY, USA.ORCID 0000-0003-3438-5685
Stefan GräfDepartment of Medicine, Heart and Lung Research Institute, University of Cambridge, Cambridge, UK.ORCID 0000-0002-1315-8873
Ekkehard GrünigCenter for Pulmonary Hypertension, Thoraxklinik Heidelberg gGmbH at Heidelberg University Hospital, Heidelberg, Germany.
David MontaniUniversité Paris-Saclay, AP-HP, French Referral Center for Pulmonary Hypertension, Pulmonary Department, Hôpital de Bicêtre, Le Kremlin-Bicêtre, France.ORCID 0000-0002-9358-6922
Rozenn QuarckLaboratory of Respiratory Diseases and Thoracic Surgery (BREATHE), Department of Chronic Diseases and Metabolism (CHROMETA), Clinical Department of Respiratory Diseases, University Hospitals, University of Leuven, Leuven, Belgium.ORCID 0000-0002-8293-6261
Jair A Tenorio-CastanoINGEMM, Instituto de Genética Médica y Molecular, IdiPAZ, Hospital Universitario La Paz, Madrid, Spain.
Florent SoubrierSorbonne Université, AP-HP, Département de Génétique, INSERM UMR_S1166, Sorbonne Université, Institute for Cardiometabolism and Nutrition (ICAN), Hôpital Pitié-Salpêtrière, Paris, France.ORCID 0000-0003-2571-7932
Richard C TrembathDepartment of Medical and Molecular Genetics, Faculty of Life Sciences and Medicine, King's College London, London, UK.
Nicholas W MorrellDepartment of Medicine, Heart and Lung Research Institute, University of Cambridge, Cambridge, UK nwm23@cam.ac.uk.
for PAH-ICON associated with the PVRI
Heidelberg University · DEInserm · FRKU Leuven · BEUniversity of Cambridge · GBColumbia University Irving Medical Center · USHospital Universitario La Paz · ESKing's College London · GB
Funding
High Shear Stress Alters Gene Regulation in Pulmonary Arterial HypertensionR01HL152134 · NHLBI · STANFORD UNIVERSITY · PI RABINOVITCH, MARLENE · 2021 to 2024
$2.9MReclassifying Pulmonary Arterial Hypertension Into Immune Phenotypes Using Machine LearningK23HL151892 · NHLBI · STANFORD UNIVERSITY · PI SWEATT, ANDREW JOHN · 2020 to 2024
$942kBritish Heart FoundationNHLBI NIH HHS K23 HL151892NHLBI NIH HHS R01 HL152134
Abstract
Pulmonary arterial hypertension (PAH) is a rare disease that can be caused by (likely) pathogenic germline genomic variants. In addition to the most prevalent disease gene,
Indexed as
Hypertension, PulmonaryPulmonary Arterial HypertensionBone Morphogenetic Protein Receptors, Type IIFamilial Primary Pulmonary HypertensionGenetic CounselingGenetic Predisposition to DiseaseGenetic TestingHumansMutationBone Morphogenetic Protein Receptors, Type II
Identifiers
What Socratic holds
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LicenceCC BY-NC
Read underepoch 390
Registered trials
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.