Evidence map›Paper›PMID 23843345›Full record

ArticleAmerican journal of medical genetics. Part C, Seminars in medical genetics2013

Implications of genetic testing in noncompaction/hypertrabeculation.

Joseph T C Shieh

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in American journal of medical genetics. Part C, Seminars in medical genetics, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing 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

3 citing papers in PubMed.

  1. Article
  2. Genetic Testing in Pediatric Left Ventricular Noncompaction.Circulation. Cardiovascular genetics · 2017
    Article
  3. Inherited cardiomyopathies.Circulation journal : official journal of the Japanese Circulation Society · 2014
    Review
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

1 author.

Joseph T C ShiehDivision of Medical Genetics, Department of Pediatrics, Institute for Human Genetics, University of California San Francisco, UCSF Benioff Children's Hospital, San Francisco, CA, USA. shiehj2@humgen.ucsf.edu

Funding

Role of MicroRNA-499 in the HeartK08HL092970 · NHLBI · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI SHIEH, JOSEPH T · 2009 to 2013
$627k
NHLBI NIH HHS HL092970NHLBI NIH HHS K08 HL092970
6 · The paper itself

Abstract

Noncompaction/hypertrabeculation is increasingly being recognized in children and adults, yet we understand little about the causes of disease. Genes associated with noncompaction/hypertrabeculation have been identified, but how can these assist in clinical management? Genomic technologies have also expanded tremendously, making testing more comprehensive, but they also present new questions given the tremendous diversity of phenotypes and variability of genomes. Here we present genetic evaluation strategies and assess clinical testing options for noncompaction/hypertrabeculation. We assess genes/gene panels offered by clinical laboratories and the potential for high-throughput sequencing to fuel further discovery. We discuss challenges in cardiovascular genetics, such as interpretation of genomic variants, prediction and disease penetrance.

Indexed as

GenomicsCardiomyopathiesGenetic Predisposition to DiseaseGenetic TestingHigh-Throughput Nucleotide SequencingHumansPhenotypeSequence Analysis, DNAcardiomyopathygenetic testgenomegenomic medicineinterpretationnoncompactionracevariant

Identifiers

PMID23843345
PMCPMC3746595

What OpenQuestion holds

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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.