Evidence map›Paper›PMID 38777371›Full record

ArticleLife science alliance2024

Novel variants in

Douglas Jones, Jacob Hartung, Elizabeth Lasalle, Alejandro Borquez, Viridiana Murillo, Lucia Guidugli, Kiely N James, Stephen F Kingsmore, Nicole G Coufal

Abstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Life science alliance, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing 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

4 citing papers in PubMed.

  1. Compound heterozygousHeartRhythm case reports · 2026
    Article
  2. Review
  3. Article
  4. 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

9 authors.

Douglas JonesRady Children's Hospital, San Diego, CA, USA.
Jacob HartungRady Children's Hospital, San Diego, CA, USA.
Elizabeth LasalleRady Children's Hospital, San Diego, CA, USA.
Alejandro BorquezRady Children's Hospital, San Diego, CA, USA.
Viridiana MurilloRady Children's Institute for Genomic Medicine, San Diego, CA, USA.
Lucia GuidugliRady Children's Institute for Genomic Medicine, San Diego, CA, USA.
Kiely N JamesRady Children's Institute for Genomic Medicine, San Diego, CA, USA.
Stephen F KingsmoreRady Children's Institute for Genomic Medicine, San Diego, CA, USA.
Nicole G CoufalRady Children's Hospital, San Diego, CA, USA ncoufal@health.ucsd.edu.ORCID 0000-0001-6547-1733

Funding

ConProject-001U19HD077693 · NICHD · RADY PEDIATRIC GENOMICS & SYSTEMS MEDICINE INSTITUTE · PI KINGSMORE, STEPHEN FRANCIS · 2013 to 2018
$6.2M
NICHD NIH HHS U19 HD077693
6 · The paper itself

Abstract

Pathogenic and likely pathogenic variants in the

Indexed as

Tachycardia, VentricularAdolescentElectrocardiographyGenetic Predisposition to DiseaseHumansMaleMutationPedigreePolymorphic Catecholaminergic Ventricular TachycardiaWhole Genome Sequencing

Identifiers

PMID38777371
PMCPMC11111969

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.