ArticleJournal of medical genetics2022
Biallelic variants of
Article in Journal of medical genetics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers, 1 of them a synthesis that pooled it.
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
22 citing papers in PubMed, 1 synthesis or guideline pooled it, 30 citations in OpenAlex.
- Assessing the precision of machine learning for diagnosing pulmonary arterial hypertension: a systematic review and meta-analysis of diagnostic accuracy studies.Frontiers in cardiovascular medicine · 2024Pooled it
- Molecular-Genetic Basis of Pulmonary Arterial Hypertension (PAH).Current issues in molecular biology · 2026Review
- A circulating MicroRNA signature for the diagnosis of pulmonary arterial hypertension and functional characterization of candidate miR-3168.Scientific reports · 2026Article
- The Role of Genetics in Congenital Heart Disease-Associated Pulmonary Arterial Hypertension.Pediatric cardiology · 2026Observational
- Review
- Hemodynamic and Genetic Associations with the Risk of Idiopathic Pulmonary Arterial Hypertension Development in an Ethnic Cohort of Kazakhs.Diagnostics (Basel, Switzerland) · 2024Article
- Seeing pulmonary hypertension through a paediatric lens: a viewpoint.The European respiratory journal · 2024Article
- ATP13A3 variants promote pulmonary arterial hypertension by disrupting polyamine transport.Cardiovascular research · 2024Article
- Influence of DNA Methylation on Vascular Smooth Muscle Cell Phenotypic Switching.International journal of molecular sciences · 2024Review
- Hemodynamic and Clinical Profiles of Pulmonary Arterial Hypertension Patients with GDF2 and BMPR2 Variants.International journal of molecular sciences · 2024Article
- Defining the clinical validity of genes reported to cause pulmonary arterial hypertension.Genetics in medicine : official journal of the American College of Medical Genetics · 2023Article
- Pathophysiology and pathogenic mechanisms of pulmonary hypertension: role of membrane receptors, ion channels, and CaPhysiological reviews · 2023Review
- Novel Green Fluorescent Polyamines to Analyze ATP13A2 and ATP13A3 Activity in the Mammalian Polyamine Transport System.Biomolecules · 2023Article
- Genetic counselling and testing in pulmonary arterial hypertension: a consensus statement on behalf of the International Consortium for Genetic Studies in PAH.The European respiratory journal · 2023Article
- Pathophysiology and new advances in pulmonary hypertension.BMJ medicine · 2023Review
- Biallelic variants in the calpain regulatory subunitGenetics in medicine open · 2023Article
- Endothelial cell clonality, heterogeneity and dysfunction in pulmonary arterial hypertension.Frontiers in medicine · 2023Review
- Molecular genetics of pulmonary hypertension in children.Current opinion in genetics & development · 2022Review
- New Mutations and Pathogenesis of Pulmonary Hypertension: Progress and Puzzles in Disease Pathogenesis.Circulation research · 2022Review
- Channelopathy Genes in Pulmonary Arterial Hypertension.Biomolecules · 2022Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
23 authors at 8 institutions in 3 countries.
Funding
Abstract
backgroundThe molecular genetic basis of pulmonary arterial hypertension (PAH) is heterogeneous, with at least 26 genes displaying putative evidence for disease causality. Heterozygous variants in the METHODS AND
resultsWe report three families with a novel, autosomal recessive form of childhood-onset PAH due to biallelic
conclusionOur findings support biallelic predicted deleterious
Indexed as
Identifiers
What Socratic holds
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 Socratic graph.