Evidence map›Paper›PMID 42369211›Full record

ArticleHuman mutation2026

Exploring the Functional Impact of Individual

Nikolaj Juul Nitschke, Marwa Almosailleakh, Issa Ismail Issa, Clara Amanda Skov, Casper Carstens Lund, Jakob Werner Hansen, Jakob Schmidt Jespersen, Klas Raaschou-Jensen, Claudia Schöllkopf, Marianne Tang Severinsen and 6 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Human mutation, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing 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

1 citing paper in PubMed.

  1. 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.

Nikolaj Juul NitschkeDepartment of Hematology, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark, gentoftehospital.dk.
Marwa AlmosailleakhDepartment of Hematology, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark, gentoftehospital.dk.
Issa Ismail IssaDepartment of Hematology, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark, gentoftehospital.dk.
Clara Amanda SkovDepartment of Hematology, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark, gentoftehospital.dk.ORCID https://orcid.org/0009-0005-1873-8016
Casper Carstens LundBiotech Research and Innovation Centre (BRIC), Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark, ku.dk.
Jakob Werner HansenDepartment of Hematology, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark, gentoftehospital.dk.
Jakob Schmidt JespersenBiotech Research and Innovation Centre (BRIC), Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark, ku.dk.ORCID https://orcid.org/0000-0002-4930-5900
Klas Raaschou-JensenDepartment of Hematology, Odense University Hospital, Odense, Denmark, ouh.dk.
Claudia SchöllkopfDepartment of Hematology, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark, gentoftehospital.dk.
Marianne Tang SeverinsenDepartment of Hematology, Clinical Cancer Research Center, Aalborg University Hospital, Aalborg, Denmark, aalborguh.rn.dk.
Bo PorseBiotech Research and Innovation Centre (BRIC), Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark, ku.dk.
Joachim WeischenfeldBiotech Research and Innovation Centre (BRIC), Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark, ku.dk.
Anne Stidsholt RougDepartment of Hematology, Aarhus University Hospital, Aarhus, Denmark, auh.dk.
Mette Klarskov AndersenDepartment of Clinical Genetics, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark, gentoftehospital.dk.
Morten FrödinBiotech Research and Innovation Centre (BRIC), Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark, ku.dk.
Kirsten GrønbækDepartment of Hematology, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark, gentoftehospital.dk.ORCID https://orcid.org/0000-0002-1535-9601

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Germline

Indexed as

DEAD-box RNA HelicasesGenetic VariationLeukemia, Myeloid, AcuteMyelodysplastic SyndromesCell ProliferationFemaleGenetic Predisposition to DiseaseGerm-Line MutationHumansK562 CellsMaleDDX41 protein, humanDEAD-box RNA HelicasesAMLDDX41functional geneticsgermline predisposition to myeloid neoplasmsMDSvariant interpretation

Identifiers

PMID42369211
PMCPMC13303339

What Socratic holds

Textmetadata
LicenceCC BY
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 Socratic graph.