Evidence map›Paper›PMID 40726512›Full record

ArticleERJ open research2025

Rare variants in

Mark W Dodson, Kristina Allen-Brady, Jeffrey Stevens, Meghan M Cirulis, Mona Alotaibi, Timothy M Fernandes, Nick H Kim, Kim M Kerr, Demosthenes G Papamatheakis, David S Poch and 6 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in ERJ open research, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing 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

3 citing papers in PubMed.

  1. Review
  2. Review
  3. Article
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

16 authors.

Mark W DodsonDepartment of Pulmonary and Critical Care Medicine, Intermountain Medical Center, Murray, UT, USA.
Kristina Allen-BradyDivision of Epidemiology, Department of Internal Medicine, University of Utah School of Medicine, Salt Lake City, UT, USA.
Jeffrey StevensDivision of Epidemiology, Department of Internal Medicine, University of Utah School of Medicine, Salt Lake City, UT, USA.
Meghan M CirulisDepartment of Pulmonary and Critical Care Medicine, Intermountain Medical Center, Murray, UT, USA.
Mona AlotaibiDivision of Pulmonary, Critical Care and Sleep Medicine, University of California San Diego, La Jolla, CA, USA.ORCID https://orcid.org/0000-0001-8492-9930
Timothy M FernandesDivision of Pulmonary, Critical Care and Sleep Medicine, University of California San Diego, La Jolla, CA, USA.
Nick H KimDivision of Pulmonary, Critical Care and Sleep Medicine, University of California San Diego, La Jolla, CA, USA.
Kim M KerrDivision of Pulmonary, Critical Care and Sleep Medicine, University of California San Diego, La Jolla, CA, USA.
Demosthenes G PapamatheakisDivision of Pulmonary, Critical Care and Sleep Medicine, University of California San Diego, La Jolla, CA, USA.
David S PochDivision of Pulmonary, Critical Care and Sleep Medicine, University of California San Diego, La Jolla, CA, USA.
Julianna DesmaraisDivision of Arthritis and Rheumatic Diseases, Oregon Health and Science University, Portland, OR, USA.
D Hunter BestARUP Institute of Clinical and Experimental Pathology, ARUP Laboratories, Salt Lake City, UT, USA.
Nathan D HattonDivision of Respiratory, Critical Care, and Occupational Pulmonary Medicine, Department of Medicine, University of Utah, Salt Lake City, UT, USA.
John J RyanDivision of Cardiovascular Medicine, Department of Medicine, University of Utah, Salt Lake City, UT, USA.
C Gregory ElliottDepartment of Pulmonary and Critical Care Medicine, Intermountain Medical Center, Murray, UT, USA.
Lisa A Cannon-AlbrightDivision of Epidemiology, Department of Internal Medicine, University of Utah School of Medicine, Salt Lake City, UT, USA.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Background: The pathogenesis of chronic thromboembolic pulmonary hypertension (CTEPH) is poorly understood. Studies of the genetic risk factors for CTEPH are likely to improve our understanding of CTEPH pathogenesis and may lead to novel treatment and prevention strategies. Genetic analysis focused on shared gene variants in high-risk disease pedigrees can aid in the identification of rare variants with a strong effect on disease risk. Methods: We identified 13 CTEPH high-risk pedigrees and performed whole-exome sequencing in 22 CTEPH cases from these pedigrees, focusing on rare and deleterious variants that were shared between related CTEPH cases. We validated CTEPH candidate gene variants in two independent CTEPH cohorts, one from Utah (n=78) and one from the University of California San Diego (n=238), and compared them to controls from the UK Biobank. Results: A rare and predicted deleterious missense variant in Conclusions: Rare variants in

Identifiers

PMID40726512
PMCPMC12301891

What OpenQuestion holds

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Registered trials

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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.