Evidence map›Paper›PMID 38375433›Full record

ArticleERJ open research2024

A new variant in the

Karlijn Groen, Joanne J van der Vis, Aernoud A van Batenburg, Karin M Kazemier, Marjolein J W de Bruijn, Ralph Stadhouders, Pascal Arp, Annemieke J M H Verkerk, Angela E Schoemaker, Charlotte I de Bie and 5 more

Abstract read
In one paragraph

Article in ERJ open research, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.

0numbers the graph read from it
0cells of the map it votes in
6citing 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

6 citing papers in PubMed.

  1. Review
  2. Clonal Signatures of Telomere Biology Disorders.Current hematologic malignancy reports · 2026
    Review
  3. Article
  4. Article
  5. Review
  6. 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

15 authors.

Karlijn GroenDepartment of Pulmonology, St Antonius ILD Center of Excellence, St Antonius Hospital, Nieuwegein, the Netherlands.
Joanne J van der VisDepartment of Pulmonology, St Antonius ILD Center of Excellence, St Antonius Hospital, Nieuwegein, the Netherlands.ORCID https://orcid.org/0000-0002-6727-8416
Aernoud A van BatenburgDepartment of Pulmonology, St Antonius ILD Center of Excellence, St Antonius Hospital, Nieuwegein, the Netherlands.ORCID https://orcid.org/0000-0002-2841-7911
Karin M KazemierDepartment of Pulmonology, St Antonius ILD Center of Excellence, St Antonius Hospital, Nieuwegein, the Netherlands.
Marjolein J W de BruijnDepartment of Pulmonary Medicine, Erasmus Medical Center, Rotterdam, the Netherlands.
Ralph StadhoudersDepartment of Pulmonary Medicine, Erasmus Medical Center, Rotterdam, the Netherlands.
Pascal ArpDepartment of Internal Medicine, Laboratory of Population Genomics, Erasmus Medical Center, Rotterdam, the Netherlands.
Annemieke J M H VerkerkDepartment of Internal Medicine, Laboratory of Population Genomics, Erasmus Medical Center, Rotterdam, the Netherlands.
Angela E SchoemakerDepartment of Genetics, University Medical Center Utrecht, Utrecht, the Netherlands.
Charlotte I de BieDepartment of Genetics, University Medical Center Utrecht, Utrecht, the Netherlands.ORCID https://orcid.org/0009-0006-5760-7454
Maarten P G MassinkDepartment of Genetics, University Medical Center Utrecht, Utrecht, the Netherlands.
Frouke T van BeekDepartment of Pulmonology, St Antonius ILD Center of Excellence, St Antonius Hospital, Nieuwegein, the Netherlands.
Jan C GruttersDepartment of Pulmonology, St Antonius ILD Center of Excellence, St Antonius Hospital, Nieuwegein, the Netherlands.
Leonie J M VergouwDepartment of Internal Medicine, Laboratory of Population Genomics, Erasmus Medical Center, Rotterdam, the Netherlands.
Coline H M van MoorselDepartment of Pulmonology, St Antonius ILD Center of Excellence, St Antonius Hospital, Nieuwegein, the Netherlands.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Introduction: Pulmonary fibrosis is a severe disease which can be familial. A genetic cause can only be found in ∼40% of families. Searching for shared novel genetic variants may aid the discovery of new genetic causes of disease. Methods: Whole-exome sequencing was performed in 152 unrelated patients with a suspected genetic cause of pulmonary fibrosis from the St Antonius interstitial lung disease biobank. Variants of interest were selected by filtering for novel, potentially deleterious variants that were present in at least three unrelated pulmonary fibrosis patients. Results: The novel c.586G>A p.(E196K) variant in the Discussion: The

Identifiers

PMID38375433
PMCPMC10875464

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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.