Evidence map›Paper›PMID 40365325›Full record

ArticleJIMD reports2025

Atypical Presentation of

Parith Wongkittichote, Kira E Jonatzke, Benjamin T Hyde, Lance W Peterson, Mai He, Robert C McKinstry, Anthony Antonellis, Marwan Shinawi

Abstract read
In one paragraph

Article in JIMD reports, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed, 1 pooled it
–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 synthesis or guideline pooled it.

  1. Phenotype and Long-Term Outcome in Recurrent Paediatric Acute Liver Failure: Systematic Review and Individual Participant Data Analysis.Liver international : official journal of the International Association for the Study of the Liver · 2025
    Pooled it
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

8 authors.

Parith WongkittichoteDepartment of Pediatrics, Division of Genetics and Genomic Medicine Washington University School of Medicine St. Louis Missouri USA.ORCID https://orcid.org/0000-0002-7321-307X
Kira E JonatzkeDepartment of Human Genetics University of Michigan Ann Arbor Michigan USA.
Benjamin T HydeDepartment of Human Genetics University of Michigan Ann Arbor Michigan USA.
Lance W PetersonDepartment of Pediatrics, Division of Rheumatology and Immunology Washington University School of Medicine St. Louis Missouri USA.ORCID https://orcid.org/0000-0003-2458-6678
Mai HeDepartment of Pathology and Immunology Washington University School of Medicine St. Louis Missouri USA.
Robert C McKinstryMallinckrodt Institute of Radiology Washington University School of Medicine St. Louis Missouri USA.
Anthony AntonellisDepartment of Human Genetics University of Michigan Ann Arbor Michigan USA.
Marwan ShinawiDepartment of Pediatrics, Division of Genetics and Genomic Medicine Washington University School of Medicine St. Louis Missouri USA.ORCID https://orcid.org/0000-0003-1329-4100

Funding

Defining the Role of Aminoacyl-tRNA Synthetases in Human Health and DiseaseR35GM136441 · NIGMS · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI Anthony Antonellis · 2020 to 2026
$2.8M
NIGMS NIH HHS R35 GM136441
6 · The paper itself

Abstract

Aminoacyl-tRNA synthetases (ARSs) catalyze the formation of aminoacyl-tRNA, which is required for protein translation. A growing number of cases are associated with ARS deficiencies. Pathogenic variants in

Indexed as

aminoacyl‐tRNA synthetaseaminoacyl‐tRNA synthetase deficienciesgrowth retardation, impaired intellectual development, hypotonia, and hepatopathyIARS1immune dysregulationisoleucine

Identifiers

PMID40365325
PMCPMC12069011

What OpenQuestion 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 OpenQuestion graph.