Evidence map›Paper›PMID 42656660›Full record

ArticleGenetics in medicine open2026

Ranjan K Sahu, Lynne M Bird, Alexa R Geltzeiler, Pradeep Vasudevan, Marcelo Vargas, Beau Crabb, Jessica Ruedy, Wendy K Chung, Hyung-Lok Chung

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Genetics in medicine open, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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

9 authors.

Ranjan K SahuDepartment of Neurology, Houston Methodist Research Institute, Houston, TX.
Lynne M BirdDepartment of Pediatrics, University of California San Diego/Rady Children's Hospital, San Diego, CA.
Alexa R GeltzeilerDepartment of Pediatrics, Boston Children's Hospital, Boston, MA.
Pradeep VasudevanDepartment of Clinical Genetics, University Hospitals of Leicester NHS Trust, Leicester, UK.
Marcelo VargasDepartment of Medical Genetics, Gillette Children's Hospital, Minneapolis, MN.
Beau CrabbDepartment of Medical Genetics, Gillette Children's Hospital, Minneapolis, MN.
Jessica RuedyDepartment of Medical Genetics, Gillette Children's Hospital, Minneapolis, MN.
Wendy K ChungDepartment of Pediatrics, Boston Children's Hospital, Boston, MA.
Hyung-Lok ChungDepartment of Neurology, Houston Methodist Research Institute, Houston, TX.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Purpose: DDX23, a member of the DEAD-box RNA helicase superfamily, is crucial for RNA processing and translation initiation during gametogenesis and cell division. This study aims to determine the disease-causing potential and clinical relevance of rare de novo Methods: Clinical and genetic analyses were performed on 3 individuals presenting with developmental delay or intellectual disability, facial dysmorphisms, brain structural abnormalities, and cardiopulmonary defects. Exome sequencing identified rare de novo monoallelic missense variants at p.Arg528-p.(Arg528Cys), p.(Arg528His), or p.(Arg528Gln)-in Results: All 3 individuals carried a de novo missense variants at p.Arg528-p.(Arg528Cys), p.(Arg528His), or p.(Arg528Gln)-all predicted in silico to be deleterious, with dominant effects. Expression of the p.(Arg528Cys) and p.(Arg528His) alleles in Conclusion: Our study identifies recurrent de novo missense variants in DDX23 as the genetic cause of a neurodevelopmental syndrome. Functional assays in

Indexed as

DEAD-box helicaseDevelopmental delayGain-of-functionIntellectual disabilityMissense variants

Identifiers

PMID42656660
PMCPMC13507733

What OpenQuestion holds

Textmetadata
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.