Evidence map›Paper›PMID 42040991›Full record

ArticleJIMD reports2026

Antenatal Presentation of MRPS22-Related Mitochondrial Disease Confirmed With Rapid Proteomics.

Liana N Semcesen, Megan Ball, Daniella H Hock, Juliet Kaye, Aimee Woods, Lucas De Jong, MitoMDT Diagnostic Network for Genomics and Omics, John Christodoulou, David R Thorburn, Alison G Compton and 2 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in JIMD reports, 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

12 authors.

Liana N SemcesenDepartment of Biochemistry and Pharmacology Bio21 Molecular Science and Biotechnology Institute, University of Melbourne Parkville Victoria Australia.
Megan BallMurdoch Children's Research Institute Melbourne Victoria Australia.ORCID https://orcid.org/0000-0002-9252-704X
Daniella H HockDepartment of Biochemistry and Pharmacology Bio21 Molecular Science and Biotechnology Institute, University of Melbourne Parkville Victoria Australia.
Juliet KayeMedical Imaging Women's and Children's Hospital Adelaide South Australia Australia.
Aimee WoodsMaternal Fetal Medicine Department Women's and Children's Hospital Adelaide South Australia Australia.
Lucas De JongGenetics and Molecular Pathology SA Pathology Adelaide South Australia Australia.
MitoMDT Diagnostic Network for Genomics and Omics
John ChristodoulouMurdoch Children's Research Institute Melbourne Victoria Australia.
David R ThorburnMurdoch Children's Research Institute Melbourne Victoria Australia.ORCID https://orcid.org/0000-0002-7725-9470
Alison G ComptonMurdoch Children's Research Institute Melbourne Victoria Australia.ORCID https://orcid.org/0000-0002-2725-7055
David A StroudDepartment of Biochemistry and Pharmacology Bio21 Molecular Science and Biotechnology Institute, University of Melbourne Parkville Victoria Australia.
Jan LiebeltSA Clinical Genetics Service Women's and Children's Hospital Adelaide South Australia Australia.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

PubMed holds no abstract for this paper.

Indexed as

corpus callosumgenomic autopsyhydrops fetalismitochondrial diseasemitoribosomeMRPS22proteomics

Identifiers

PMID42040991
PMCPMC13107422

What OpenQuestion holds

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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.