ReviewThe European respiratory journal2019
Genetics and genomics of pulmonary arterial hypertension.
Review in The European respiratory journal, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 258 papers, 2 of them syntheses that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
258 citing papers in PubMed, 2 syntheses or guidelines pooled it, 458 citations in OpenAlex.
- Impact of BMPR2 mutation on the severity of pulmonary arterial hypertension: a systematic review and meta-analysis.Respiratory research · 2025Pooled it
- Allele-specific control of rodent and human lncRNA KMT2E-AS1 promotes hypoxic endothelial pathology in pulmonary hypertension.Science translational medicine · 2024Pooled it
- Sotatercept for the treatment of pulmonary arterial hypertension: PULSAR open-label extension.The European respiratory journal · 2023Trial
- Trial
- The relationship between preoperative pulmonary hypertension risk in liver transplant and vascular and biliary complications in the postoperative period.Diagnostic and interventional radiology (Ankara, Turkey) · 2026Article
- The Evolving Landscape of Pulmonary Vascular Disease: Current Advances and Future Directions in Pulmonary Hypertension and Pulmonary Embolism.Life (Basel, Switzerland) · 2026Article
- Eisenmenger Syndrome Enters the Sotatercept Era.JACC. Case reports · 2026Article
- Post-translational modification crosstalk in pulmonary arterial hypertension: mechanisms and therapeutic implications.Molecular biology reports · 2026Review
- Pulmonary arterial hypertension from a translational perspective: Bridging pathophysiology and treatment.Chinese medical journal · 2026Review
- E2F1 Drives Endothelial Arterial Programming in Pulmonary Arterial Hypertension.bioRxiv : the preprint server for biology · 2026Article
- Association of pretransplant pulmonary hypertension with posttransplant renal Doppler ultrasonography findings and biopsy-proven rejection.BMC nephrology · 2026Article
- KLF6 activation marks an angiogenic and apoptosis resistant endothelial phenotype in pulmonary arterial hypertension.Communications biology · 2026Article
- Challenges and Strategies in Managing Pulmonary Arterial Hypertension Within the Indian Healthcare System: A Consensus Statement From the Pulmonary Vascular Research Institute India Taskforce.Pulmonary circulation · 2026Article
- Childhood Interstitial Lung Disease-Successful Application of a Stepwise Diagnostic Classification.Journal of clinical medicine · 2026Article
- The relationship between pulmonary hypertension and graft vascular resistance and rejection in liver transplant patients.BMC pulmonary medicine · 2026Article
- Identification of drug candidates for rescue of SOX17 gene targets in pulmonary arterial hypertension.bioRxiv : the preprint server for biology · 2026Article
- Sodium Selenite Attenuates Monocrotaline-Induced Pulmonary Arterial Hypertension by Upregulating GPX3 and Ameliorating Vascular Remodeling.Physiological research · 2026Article
- Circulating microRNAs in pulmonary arterial hypertension: biomarkers for diagnosis, prognostic stratification, and treatment.GeroScience · 2026Review
- Treatment Paradigm Shifts in Pulmonary Arterial Hypertension: Evidence From Asia on Vasodilators to Antiremodeling Therapies.JACC. Asia · 2026Article
- Review
198 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
8 authors at 8 institutions in 3 countries.
Funding
Abstract
Since 2000 there have been major advances in our understanding of the genetic and genomics of pulmonary arterial hypertension (PAH), although there remains much to discover. Based on existing knowledge, around 25-30% of patients diagnosed with idiopathic PAH have an underlying Mendelian genetic cause for their condition and should be classified as heritable PAH (HPAH). Here, we summarise the known genetic and genomic drivers of PAH, the insights these provide into pathobiology, and the opportunities afforded for development of novel therapeutic approaches. In addition, factors determining the incomplete penetrance observed in HPAH are discussed. The currently available approaches to genetic testing and counselling, and the impact of a genetic diagnosis on clinical management of the patient with PAH, are presented. Advances in DNA sequencing technology are rapidly expanding our ability to undertake genomic studies at scale in large cohorts. In the future, such studies will provide a more complete picture of the genetic contribution to PAH and, potentially, a molecular classification of this disease.
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Registered trials
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 OpenQuestion graph.