Evidence map›Paper›PMID 40210444›Full record

ArticleThorax2025

Inherited predisposition to pneumothorax: estimating the frequency of Birt-Hogg-Dubé syndrome from genomics and population cohorts.

Bryndis Yngvadottir, Lucy Richman, Avgi Andreou, Jessica Woodley, Anita Luharia, Derek Lim, Genes & Health Research Team, Eamonn R Maher, Stefan J Marciniak

Abstract read
In one paragraph

Article in Thorax, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.

0numbers the graph read from it
0cells of the map it votes in
13citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from 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.

2 · The registry

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.

3 · Its place in the literature

Who cites it

13 citing papers in PubMed.

  1. Birt-Hogg-Dubé syndrome.Nature reviews. Disease primers · 2026
    Review
  2. Review
  3. Article
  4. Article
  5. Review
  6. Article
  7. Article
  8. Population Prevalence, Penetrance, and Mortality for Genetically Confirmed MODY.The Journal of clinical endocrinology and metabolism · 2026
    Article
  9. Article
  10. Article
  11. Review
  12. Article
  13. Spontaneous pneumothorax-associated with genetic disorders.Therapeutic advances in respiratory disease
    Review
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

9 authors.

Bryndis YngvadottirDepartment of Genomic Medicine, University of Cambridge, Cambridge, Cambridgeshire, UK.
Lucy RichmanDepartment of Respiratory Medicine, University of Cambridge, Cambridge, Cambridgeshire, UK.
Avgi AndreouDepartment of Genomic Medicine, University of Cambridge, Cambridge, Cambridgeshire, UK.
Jessica WoodleyCentral and South Genomic Laboratory Hub, Birmingham Women's and Children's Hospitals NHS Foundation Trust, Birmingham, Birmingham, UK.
Anita LuhariaCentral and South Genomic Laboratory Hub, Birmingham Women's and Children's Hospitals NHS Foundation Trust, Birmingham, Birmingham, UK.
Derek LimDepartment of Clinical Genetics, Birmingham Women's and Children's Hospitals NHS Foundation Trust, Birmingham, Birmingham, UK.
Genes & Health Research Team
Eamonn R MaherDepartment of Genomic Medicine, University of Cambridge, Cambridge, Cambridgeshire, UK.
Stefan J MarciniakDepartment of Respiratory Medicine, University of Cambridge, Cambridge, Cambridgeshire, UK sjm20@cam.ac.uk.ORCID 0000-0001-8472-7183

Funding

Wellcome Trust
6 · The paper itself

Abstract

Birt-Hogg-Dubé syndrome (BHDS) is the most common monogenic cause of pneumothorax. Most affected families have pathogenic variants in the

Indexed as

Birt-Hogg-Dube SyndromeGenetic Predisposition to DiseasePneumothoraxProto-Oncogene ProteinsTumor Suppressor ProteinsAdultAgedCohort StudiesFemaleGenomicsHumansMaleMiddle AgedMutationUnited KingdomFLCN protein, humanProto-Oncogene ProteinsTumor Suppressor ProteinsPleural Disease

Identifiers

PMID40210444
PMCPMC12322431

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC
Read underepoch 390

Registered trials

None linked

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.