Evidence map›Paper›PMID 38828125›Full record

ArticleAmerican journal of preventive cardiology2024

Expanded genetic testing in familial hypercholesterolemia-A single center's experience.

Emily E Brown, Kathleen Byrne, Erin D Michos, Thorsten M Leucker, Francoise Marvel, Steven R Jones, Seth S Martin, Marios Arvanitis

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in American journal of preventive cardiology, 2024. 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.

Emily E BrownDivision of Cardiology, School of Medicine, Johns Hopkins University, 600 N. Wolfe St Blalock 572, Baltimore, MD 21287, United States.
Kathleen ByrneDivision of Cardiology, School of Medicine, Johns Hopkins University, 600 N. Wolfe St Blalock 572, Baltimore, MD 21287, United States.
Erin D MichosDivision of Cardiology, School of Medicine, Johns Hopkins University, 600 N. Wolfe St Blalock 572, Baltimore, MD 21287, United States.
Thorsten M LeuckerDivision of Cardiology, School of Medicine, Johns Hopkins University, 600 N. Wolfe St Blalock 572, Baltimore, MD 21287, United States.
Francoise MarvelDivision of Cardiology, School of Medicine, Johns Hopkins University, 600 N. Wolfe St Blalock 572, Baltimore, MD 21287, United States.
Steven R JonesDivision of Cardiology, School of Medicine, Johns Hopkins University, 600 N. Wolfe St Blalock 572, Baltimore, MD 21287, United States.
Seth S MartinDivision of Cardiology, School of Medicine, Johns Hopkins University, 600 N. Wolfe St Blalock 572, Baltimore, MD 21287, United States.
Marios ArvanitisDivision of Cardiology, School of Medicine, Johns Hopkins University, 600 N. Wolfe St Blalock 572, Baltimore, MD 21287, United States.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Objective: Assess the yield of genetic testing for pathogenic variants in Methods: Retrospective review of patients seen in the Advanced Lipid Disorders Clinic at Johns Hopkins. Results: In the lipid clinic at a single center during the years 2015-2023, 607 patients underwent genetic testing for familial hypercholesterolemia, of which 263 underwent the expanded genetic testing for sitosterolemia. Eighty-eight patients had genetic testing which included Conclusion: These data suggest in rare cases expanded testing can provide answers for patients and families with a minimal likelihood of a variant of uncertain significance.

Indexed as

Familial hypercholesterolemiaGenetic testingHyperlipidemia

Identifiers

PMID38828125
PMCPMC11139767

What OpenQuestion holds

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LicenceCC BY-NC-ND
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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.