Evidence map›Paper›PMID 39898050›Full record

ArticleiScience2025

Pathogenic

Jacqueline E Taudien, Diana Bracht, Heike Olbrich, Sebastian Swirski, Fulvio D'Abrusco, Bert Van der Zwaag, Maike Möller, Thomas Lücke, Norbert Teig, Ulrika Lindberg and 13 more

Abstract read
In one paragraph

Article in iScience, 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. Article
  2. Review
  3. Molecular treatment options for patients carryingMolecular therapy. Nucleic acids · 2025
    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

23 authors.

Jacqueline E TaudienHuman Genetics, School of Medicine and Health Sciences, Carl von Ossietzky Universität Oldenburg, 26129 Oldenburg, Germany.
Diana BrachtDepartment of General Paediatrics, University Hospital Muenster, 48149 Muenster, Germany.
Heike OlbrichDepartment of General Paediatrics, University Hospital Muenster, 48149 Muenster, Germany.
Sebastian SwirskiHuman Genetics, School of Medicine and Health Sciences, Carl von Ossietzky Universität Oldenburg, 26129 Oldenburg, Germany.
Fulvio D'AbruscoNeurogenetics Research Centre, IRCCS Mondino Foundation, 27100 Pavia, Italy.
Bert Van der ZwaagDivision Laboratories, Pharmacy and Biomedical Genetics, Department of Genetics, University Medical Center of Utrecht, 3584 CX Utrecht, the Netherlands.
Maike MöllerHuman Genetics, School of Medicine and Health Sciences, Carl von Ossietzky Universität Oldenburg, 26129 Oldenburg, Germany.
Thomas LückeDepartment of Neuropaediatrics and Social Paediatrics, University Children's Hospital, Ruhr-University Bochum, 44791 Bochum, Germany.
Norbert TeigDepartment of Neonatalogy, University Children's Hospital, Ruhr-University Bochum, 44791 Bochum, Germany.
Ulrika LindbergLund University, Skåne University Hospital, Department of Clinical Sciences Lund, Respiratory Medicine and Allergology, Lund, Sweden.
Kai WohlgemuthDepartment of General Paediatrics, University Hospital Muenster, 48149 Muenster, Germany.
Julia WallmeierDepartment of General Paediatrics, University Hospital Muenster, 48149 Muenster, Germany.
Anja BlanqueInstitute for Medical Physics and Biophysics and Center for Soft Nanoscience (SoN), Westfälische Wilhelms University Münster, 48149 Münster, Germany.
Christos GatsogiannisInstitute for Medical Physics and Biophysics and Center for Soft Nanoscience (SoN), Westfälische Wilhelms University Münster, 48149 Münster, Germany.
Sebastian GeorgeDepartment of General Paediatrics, University Hospital Muenster, 48149 Muenster, Germany.
Christoph JüschkeHuman Genetics, School of Medicine and Health Sciences, Carl von Ossietzky Universität Oldenburg, 26129 Oldenburg, Germany.
Marta Owczarek-LipskaHuman Genetics, School of Medicine and Health Sciences, Carl von Ossietzky Universität Oldenburg, 26129 Oldenburg, Germany.
Dorothee VeerSocial-pediatric Outpatient and Therapy Center, Hospital Ludmillenstift, 49716 Meppen, Germany.
Hester Y KroesDivision Laboratories, Pharmacy and Biomedical Genetics, Department of Genetics, University Medical Center of Utrecht, 3584 CX Utrecht, the Netherlands.
Enza Maria ValenteNeurogenetics Research Centre, IRCCS Mondino Foundation, 27100 Pavia, Italy.
G Christoph KorenkeUniversity Children's Hospital Oldenburg, Department of Neuropaediatric and Metabolic Diseases, 26133 Oldenburg, Germany.
Heymut OmranDepartment of General Paediatrics, University Hospital Muenster, 48149 Muenster, Germany.
John NeidhardtHuman Genetics, School of Medicine and Health Sciences, Carl von Ossietzky Universität Oldenburg, 26129 Oldenburg, Germany.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Pathogenic variants in

Indexed as

Cell biologyCellular physiologyHuman GeneticsIntegrative aspects of cell biology

Identifiers

PMID39898050
PMCPMC11783387

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.