Evidence map›Paper›PMID 40040251›Full record

ArticleBritish journal of haematology2025

Prevalence of cytopenia(s) and somatic variants in patients with DDX41 mutant germline predisposition syndrome.

Yael Kusne, Talha Badar, Terra Lasho, Ludovica Marando, Abhishek A Mangaonkar, Christy Finke, James M Foran, Aref Al-Kali, Jeanne Palmer, Cecilia Arana Yi and 7 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in British journal of haematology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.

0numbers the graph read from it
0cells of the map it votes in
7citing 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

7 citing papers in PubMed.

  1. [Germline DDX41 mutations and myelodysplastic neoplasms].Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi · 2026
    Review
  2. Article
  3. Germline DDX41 mutations in myeloid neoplasms: a comprehensive review.The Korean journal of internal medicine · 2026
    Review
  4. Germline DDX41 Variants: Current Understanding and Future Directions.Current hematologic malignancy reports · 2026
    Review
  5. Molecular approach to cytopenia and bone marrow failure.Hematology. American Society of Hematology. Education Program · 2025
    Review
  6. Clinical and Molecular Spectrum ofJournal of clinical medicine · 2025
    Article
  7. 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

17 authors.

Yael KusneDivision of Hematology/Oncology, Mayo Clinic, Scottsdale, Arizona, USA.ORCID https://orcid.org/0000-0002-7325-8454
Talha BadarDivision of Hematology/Oncology and Bone Marrow Transplant Program, Mayo Clinic, Jacksonville, Florida, USA.ORCID https://orcid.org/0000-0003-1548-918X
Terra LashoDivision of Hematology, Department of Internal Medicine, Mayo Clinic, Rochester, Minnesota, USA.
Ludovica MarandoDivision of Hematology, Department of Internal Medicine, Mayo Clinic, Rochester, Minnesota, USA.
Abhishek A MangaonkarDivision of Hematology, Department of Internal Medicine, Mayo Clinic, Rochester, Minnesota, USA.ORCID https://orcid.org/0000-0003-2458-9887
Christy FinkeDivision of Hematology, Department of Internal Medicine, Mayo Clinic, Rochester, Minnesota, USA.
James M ForanDivision of Hematology/Oncology and Bone Marrow Transplant Program, Mayo Clinic, Jacksonville, Florida, USA.ORCID https://orcid.org/0000-0003-1673-1708
Aref Al-KaliDivision of Hematology, Department of Internal Medicine, Mayo Clinic, Rochester, Minnesota, USA.
Jeanne PalmerDivision of Hematology/Oncology, Mayo Clinic, Scottsdale, Arizona, USA.
Cecilia Arana YiDivision of Hematology/Oncology, Mayo Clinic, Scottsdale, Arizona, USA.
Hassan B AlkhateebDivision of Hematology, Department of Internal Medicine, Mayo Clinic, Rochester, Minnesota, USA.ORCID https://orcid.org/0000-0002-3609-8404
Naseema GangatDivision of Hematology, Department of Internal Medicine, Mayo Clinic, Rochester, Minnesota, USA.ORCID https://orcid.org/0000-0002-9104-6172
David ViswanathaDivision of Hematopathology, Mayo Clinic, Rochester, Minnesota, USA.
Mark R LitzowDivision of Hematology, Department of Internal Medicine, Mayo Clinic, Rochester, Minnesota, USA.
Timothy ChlonDivision of Experimental Hematology and Cancer Biology, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.
Alejandro FerrerDivision of Hematology, Department of Internal Medicine, Mayo Clinic, Rochester, Minnesota, USA.
Mrinal M PatnaikDivision of Hematology, Department of Internal Medicine, Mayo Clinic, Rochester, Minnesota, USA.

Funding

Women's Cancer ProgramP30CA015083 · NCI · MAYO CLINIC ROCHESTER · PI Lila J. Rutten · 1985 to 2026
$151.3M
NCI NIH HHS P30 CA015083
6 · The paper itself

Abstract

Germline variants in DDX41 (DDX41

Indexed as

DEAD-box RNA HelicasesGerm-Line MutationHematologic NeoplasmsAdolescentAdultAgedAged, 80 and overCytopeniaFemaleGenetic Predisposition to DiseaseHumansMaleMiddle AgedPrevalenceRetrospective StudiesYoung AdultDDX41 protein, humanDEAD-box RNA HelicasesAMLCCUSCHIPgermline DDX41germline predisposition syndromesMDS

Identifiers

PMID40040251
PMCPMC11985375

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
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.