ArticleThorax2022
Combining clinical, radiological and genetic approaches to pneumothorax management.
Article in Thorax, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
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
8 citing papers in PubMed, 8 citations in OpenAlex.
- Birt-Hogg-Dubé syndrome.Nature reviews. Disease primers · 2026Review
- Familial pneumothorax in twins with Tatton-Brown-Rahman DNMT3A overgrowth syndrome.European journal of human genetics : EJHG · 2026Article
- Pulmonary cysts as a diagnostic indicator of Birt-Hogg-Dubé syndrome in patients with renal neoplasm.Insights into imaging · 2025Article
- CT features associated with contralateral recurrence of spontaneous pneumothorax.QJM : monthly journal of the Association of Physicians · 2024Article
- Secondary spontaneous pneumothorax as the presenting manifestation of filamin A-associated lung disease.ERJ open research · 2024Article
- National survey on management of spontaneous pneumothorax from emergency department to specialised treatment: room for improvement.European clinical respiratory journal · 2024Article
- Multidisciplinary team directed analysis of whole genome sequencing reveals pathogenic non-coding variants in molecularly undiagnosed inherited retinal dystrophies.Human molecular genetics · 2023Article
- Spontaneous pneumothorax-associated with genetic disorders.Therapeutic advances in respiratory diseaseReview
Corrections and comments
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Authors and funding
11 authors at 2 institutions in 1 country.
Funding
Abstract
Familial spontaneous pneumothorax (FSP) accounts for 10% of primary spontaneous pneumothoraces. Appropriate investigation of FSP enables early diagnosis of serious monogenic diseases and the practice of precision medicine. Here, we show that a pneumothorax genetics multidisciplinary team (MDT) can efficiently diagnose a range of syndromic causes of FSP. A sizeable group (73.6%) of clinically unclassifiable FSPs remains. Using whole genome sequencing we demonstrate that most of these cases are not known monogenic disorders. Therefore, clinico-radiological assessment by an MDT has high sensitivity for currently known clinically important monogenic causes of FSP, which has relevance for the design of efficient pneumothorax services.
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What OpenQuestion 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 OpenQuestion graph.