Evidence map›Paper›PMID 31583969›Full record

ArticleActa cardiologica2020

Whole exome sequencing in a large pedigree with DCM identifies a novel mutation in

Tomas Robyns, Rik Willems, Johan Van Cleemput, Shalini Jhangiani, Donna Muzny, Richard Gibbs, James R Lupski, Jeroen Breckpot, Koenraad Devriendt, Anniek Corveleyn

Open access · greenAbstract read
In one paragraph

Article in Acta cardiologica, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.

0numbers the graph read from it
0cells of the map it votes in
8citing papers in PubMed
1.1field-weighted citation impact, top 19% 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

8 citing papers in PubMed, 11 citations in OpenAlex.

  1. Novel Truncating Variant c.1222DupC inCirculation. Genomic and precision medicine · 2026
    Article
  2. Article
  3. Mechanisms of RBM20 Cardiomyopathy: Insights From Model Systems.Circulation. Genomic and precision medicine · 2024
    Review
  4. Article
  5. RBM20Journal of molecular and cellular cardiology · 2022
    Article
  6. Review
  7. New Insights in RBM20 Cardiomyopathy.Current heart failure reports · 2020
    Review
  8. 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

10 authors at 2 institutions in 2 countries.

Tomas RobynsDepartment of Cardiovascular Diseases, University Hospitals Leuven, Leuven, Belgium.ORCID http://orcid.org/0000-0002-8676-4874
Rik WillemsDepartment of Cardiovascular Diseases, University Hospitals Leuven, Leuven, Belgium.ORCID http://orcid.org/0000-0002-5469-9609
Johan Van CleemputDepartment of Cardiovascular Diseases, University Hospitals Leuven, Leuven, Belgium.ORCID http://orcid.org/0000-0001-9246-6382
Shalini JhangianiDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.ORCID http://orcid.org/0000-0002-6674-0074
Donna MuznyDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.ORCID http://orcid.org/0000-0002-3055-0359
Richard GibbsDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
James R LupskiDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.ORCID http://orcid.org/0000-0001-9907-9246
Jeroen BreckpotDepartment of Human Genetics, University Hospitals Leuven, Leuven, Belgium.ORCID http://orcid.org/0000-0002-0734-5154
Koenraad DevriendtDepartment of Human Genetics, University Hospitals Leuven, Leuven, Belgium.ORCID http://orcid.org/0000-0002-3651-2548
Anniek CorveleynDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
Baylor College of Medicine · USKU Leuven · BE

Funding

Baylor-Johns Hopkins Center for Mendelian GeneticsUM1HG006542 · NHGRI · JOHNS HOPKINS UNIVERSITY · PI VALLE, DAVID · 2016 to 2020
$14.5M
NHGRI NIH HHS UM1 HG006542
6 · The paper itself

Abstract

PubMed holds no abstract for this paper.

Indexed as

MutationAdolescentAdultCardiomyopathy, DilatedChildDNADNA Mutational AnalysisExome SequencingFemaleGenetic Predisposition to DiseaseHumansMaleMiddle AgedPedigreePhenotypeRNA-Binding ProteinsDNAribonucleic acid binding motif protein 20, humanRNA-Binding Proteinsarrhythmogenic cardiomyopathydilated cardiomyopathygenetic testingnext generation sequencingRBM20whole exome sequencing

Identifiers

PMID31583969
PMCPMC7124986
OpenAlexW2977915024

What OpenQuestion holds

Textmetadata
LicenceTDM
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.