Evidence map›Paper›PMID 42548849›Full record

ArticleCase reports in critical care2026

Timely Diagnosis of Cobalamin C Disease via Rapid Genome Sequencing in a Neonate With Severe Prenatally Detected Biventricular Dysfunction.

Yutaka Furuta, Samantha N Walkin, Scott K Ward, Rory J Tinker, Rizwan Hamid, John A Phillips, Rachel E Harris, Thomas A Cassini

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Case reports in critical care, 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

8 authors.

Yutaka FurutaDepartment of Pediatrics, Division of Medical Genetics and Genomic Medicine, Vanderbilt University Medical Center, Nashville, Tennessee, USA, vanderbilt.edu.ORCID https://orcid.org/0009-0001-7278-8242
Samantha N WalkinDepartment of Pediatrics, Division of Medical Genetics and Genomic Medicine, Vanderbilt University Medical Center, Nashville, Tennessee, USA, vanderbilt.edu.
Scott K WardDepartment of Pediatrics, Division of Medical Genetics and Genomic Medicine, Vanderbilt University Medical Center, Nashville, Tennessee, USA, vanderbilt.edu.ORCID https://orcid.org/0009-0002-6052-1900
Rory J TinkerDepartment of Medical Genetics and Genomics, Icahn School of Medicine at Mount Sinai, New York, New York, USA, mountsinai.org.ORCID https://orcid.org/0000-0001-7093-8844
Rizwan HamidDepartment of Pediatrics, Division of Medical Genetics and Genomic Medicine, Vanderbilt University Medical Center, Nashville, Tennessee, USA, vanderbilt.edu.
John A PhillipsDepartment of Pediatrics, Division of Medical Genetics and Genomic Medicine, Vanderbilt University Medical Center, Nashville, Tennessee, USA, vanderbilt.edu.
Rachel E HarrisDepartment of Pediatrics, Division of Pediatric Cardiology, Vanderbilt University Medical Center, Nashville, Tennessee, USA, vanderbilt.edu.ORCID https://orcid.org/0009-0008-4287-3658
Thomas A CassiniDepartment of Pediatrics, Division of Medical Genetics and Genomic Medicine, Vanderbilt University Medical Center, Nashville, Tennessee, USA, vanderbilt.edu.ORCID https://orcid.org/0000-0002-3522-2135

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Cobalamin C (Cbl-C) disease, the most common inborn error of cobalamin metabolism caused by biallelic pathogenic

Indexed as

biventricular dysfunctioncardiomyopathycobalamin C diseaseintensive carerapid genome sequencing

Identifiers

PMID42548849
PMCPMC13429937

What OpenQuestion holds

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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.