ReviewThe European respiratory journal2024
Genetics and precision genomics approaches to pulmonary hypertension.
Review in The European respiratory journal, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 30 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
30 citing papers in PubMed.
- Genetic variants in pulmonary hypertension associated with chronic obstructive pulmonary disease.Current opinion in pulmonary medicine · 2026Review
- A large animal model of heritable pulmonary arterial hypertension using BMPR2 gene-edited sheep.JCI insight · 2026Article
- A large animal model of heritable pulmonary arterial hypertension using BMPR2 gene-edited sheep.JCI insight · 2026Article
- The Evolving Landscape of Pulmonary Vascular Disease: Current Advances and Future Directions in Pulmonary Hypertension and Pulmonary Embolism.Life (Basel, Switzerland) · 2026Article
- Pulmonary arterial hypertension from a translational perspective: Bridging pathophysiology and treatment.Chinese medical journal · 2026Review
- Genetic Determinants of Pulmonary Artery Size in over 50,000 Subjects with and without COPD.medRxiv : the preprint server for health sciences · 2026Article
- Activin Signaling Inhibitors in Pulmonary Hypertension: A State-of-the-Art Review.Pulmonary circulation · 2026Review
- Experimental pulmonary arterial hypertension in mice with a pathogenic SOX17 variant.Scientific reports · 2026Article
- One Health Insights into Pulmonary Hypertension: Bridging Human and Canine Medicine.Veterinary sciences · 2026Review
- A Large Animal Model of Heritable Pulmonary Arterial Hypertension Using Gene-editedbioRxiv : the preprint server for biology · 2026Article
- Sotatercept in Pulmonary Arterial Hypertension: Molecular Mechanisms, Clinical Evidence, and Emerging Role in Reverse Remodelling.International journal of molecular sciences · 2026Review
- Current Evidence on the Potential Role of EndothelialReviews in cardiovascular medicine · 2026Review
- Multifaceted mechanisms of plant metabolites in pulmonary arterial hypertension: a critical review beyond vasodilation.Frontiers in pharmacology · 2026Review
- Artificial intelligence-driven multivariate integration for pulmonary arterial pressure prediction in pulmonary hypertension.NPJ digital medicine · 2025Article
- Disrupting BMP/TGF-β Signaling: Modulation of AQP1 and TGFB1 in Human Pulmonary Microvascular Endothelial Cells.Comprehensive Physiology · 2025Article
- Expert consensus on the off-label use of drugs for pediatric rare diseases in China (2025 edition).Translational pediatrics · 2025Review
- Drugs and toxins associated with pulmonary arterial hypertension: from established culprits to novel threats.ERJ open research · 2025Review
- Unmasking Cancer Risk in Heritable PAH: The Hidden Role of BMPR2 in Epithelial Tumorigenesis.JACC. Case reports · 2025Article
- Late Onset Pulmonary Arterial Hypertension Associated With Features of Pulmonary Veno-Occlusive Disease and Rare Heterozygous Variants ofPulmonary circulation · 2025Article
- A cautionary note on the naive use of general-population biobanks to study pulmonary arterial hypertension, with a focus on Mendelian randomisation.The European respiratory journal · 2025Article
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Authors and funding
7 authors.
Funding
Abstract
Considerable progress has been made in the genomics of pulmonary arterial hypertension (PAH) since the 6th World Symposium on Pulmonary Hypertension, with the identification of rare variants in several novel genes, as well as common variants that confer a modest increase in PAH risk. Gene and variant curation by an expert panel now provides a robust framework for knowing which genes to test and how to interpret variants in clinical practice. We recommend that genetic testing be offered to specific subgroups of symptomatic patients with PAH, and to children with certain types of group 3 pulmonary hypertension (PH). Testing of asymptomatic family members and the use of genetics in reproductive decision-making require the involvement of genetics experts. Large cohorts of PAH patients with biospecimens now exist and extension to non-group 1 PH has begun. However, these cohorts are largely of European origin; greater diversity will be essential to characterise the full extent of genomic variation contributing to PH risk and treatment responses. Other types of omics data are also being incorporated. Furthermore, to advance gene- and pathway-specific care and targeted therapies, gene-specific registries will be essential to support patients and their families and to lay the foundation for genetically informed clinical trials. This will require international outreach and collaboration between patients/families, clinicians and researchers. Ultimately, harmonisation of patient-derived biospecimens, clinical and omic information, and analytic approaches will advance the field.
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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 OpenQuestion graph.