Evidence map›Paper›PMID 29367541›Full record

ArticleJournal of cardiovascular development and disease2017

Diagnostic Yield of Whole Exome Sequencing in Pediatric Dilated Cardiomyopathy.

Pamela A Long, Jared M Evans, Timothy M Olson

Open access · goldAbstract read
In one paragraph

Article in Journal of cardiovascular development and disease, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 35 papers.

0numbers the graph read from it
0cells of the map it votes in
35citing papers in PubMed
3.9field-weighted citation impact, top 5% of its field
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

35 citing papers in PubMed, 54 citations in OpenAlex.

  1. Article
  2. Coronary artery disease risk gene PRDM16 regulates smooth muscle homeostasis.Journal of molecular and cellular cardiology · 2026
    Article
  3. Dilated cardiomyopathy in patients with PRDM16 haploinsufficiency.Journal of molecular medicine (Berlin, Germany) · 2025
    Article
  4. Article
  5. Review
  6. Review
  7. Article
  8. Article
  9. Article
  10. Review
  11. Article
  12. Genetics of Dilated Cardiomyopathy.Annual review of medicine · 2024
    Review
  13. Article
  14. The Roles of Histone Lysine Methyltransferases in Heart Development and Disease.Journal of cardiovascular development and disease · 2023
    Review
  15. Article
  16. Article
  17. Observational
  18. Article
  19. Understanding the molecular basis of cardiomyopathy.American journal of physiology. Heart and circulatory physiology · 2022
    Review
  20. 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

3 authors at 2 institutions in 1 country.

Pamela A LongMayo Graduate School of Biomedical Sciences, Molecular Pharmacology and Experimental Therapeutics Track, Mayo Clinic, Rochester, MN 55905, USA. pamela.long@cchmc.org.
Jared M EvansDivision of Biomedical Statistics and Informatics, Department of Health Sciences Research, Mayo Clinic, Rochester, MN 55905, USA. evans.jared@mayo.edu.
Timothy M OlsonDivision of Pediatric Cardiology, Department of Pediatric and Adolescent Medicine, Mayo Clinic, Rochester, MN 55905, USA. olson.timothy@mayo.edu.
Mayo Clinic in Florida · USMayo Clinic in Arizona · US

Funding

Mapping Novel Disease Genes for Dilated CardiomyopathyR01HL071225 · NHLBI · MAYO CLINIC ROCHESTER · PI OLSON, TIMOTHY MARK · 2002 to 2015
$3.6M
NHLBI NIH HHS R01 HL071225
6 · The paper itself

Abstract

Dilated cardiomyopathy (DCM) is a heritable, genetically heterogeneous disorder characterized by progressive heart failure. DCM typically remains clinically silent until adulthood, yet symptomatic disease can develop in childhood. We sought to identify the genetic basis of pediatric DCM in 15 sporadic and three affected-siblings cases, comprised of 21 affected children (mean age, five years) whose parents had normal echocardiograms (mean age, 39 years). Twelve underwent cardiac transplantation and five died with severe heart failure. Parent-offspring whole exome sequencing (WES) data were filtered for rare, deleterious, de novo and recessive variants. In prior work, we reported de novo mutations in

Indexed as

dilated cardiomyopathygeneticsheart failuremutationpediatricwhole exome sequencing

Identifiers

PMID29367541
PMCPMC5715713
OpenAlexW2743195298

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.