Evidence map›Paper›PMID 32013205›Full record

ArticleJournal of clinical medicine2020

Analysis of

Maria Franaszczyk, Grazyna Truszkowska, Przemyslaw Chmielewski, Malgorzata Rydzanicz, Joanna Kosinska, Tomasz Rywik, Anna Biernacka, Mateusz Spiewak, Grazyna Kostrzewa, Malgorzata Stepien-Wojno and 7 more

Open access · goldAbstract read
In one paragraph

Article in Journal of clinical medicine, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.

0numbers the graph read from it
0cells of the map it votes in
11citing papers in PubMed
2.1field-weighted citation impact, top 11% 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

11 citing papers in PubMed, 17 citations in OpenAlex.

  1. Article
  2. Article
  3. [Phenotype and genotype characteristics of children with cardiomyopathy associated withZhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2023
    Article
  4. Mouse Models of Cardiomyopathies Caused by Mutations in Troponin C.International journal of molecular sciences · 2023
    Review
  5. Article
  6. Review
  7. Homozygous Pro1066ArgLife (Basel, Switzerland) · 2022
    Article
  8. Article
  9. Review
  10. A NovelDiagnostics (Basel, Switzerland) · 2020
    Article
  11. 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

17 authors at 2 institutions in 1 country.

Maria FranaszczykMolecular Biology Laboratory, Department of Medical Biology, Institute of Cardiology, 04-628 Warsaw, Poland.
Grazyna TruszkowskaMolecular Biology Laboratory, Department of Medical Biology, Institute of Cardiology, 04-628 Warsaw, Poland.
Przemyslaw ChmielewskiUnit for Screening Studies in Inherited Cardiovascular Diseases, Institute of Cardiology, 04-628 Warsaw, Poland.
Malgorzata RydzaniczDepartment of Medical Genetics, Medical University of Warsaw, 02-106 Warsaw, Poland.
Joanna KosinskaDepartment of Medical Genetics, Medical University of Warsaw, 02-106 Warsaw, Poland.
Tomasz RywikDepartment of Heart Failure and Transplantology, Institute of Cardiology, 04-628 Warsaw, Poland.
Anna BiernackaPostgraduate School of Molecular Medicine, Medical University of Warsaw, 02-091 Warsaw, Poland.
Mateusz SpiewakMagnetic Resonance Unit, Department of Radiology, Institute of Cardiology, 04-628 Warsaw, Poland.
Grazyna KostrzewaDepartment of Forensic Medicine, Medical University of Warsaw, 02-007 Warsaw, Poland.
Malgorzata Stepien-WojnoUnit for Screening Studies in Inherited Cardiovascular Diseases, Institute of Cardiology, 04-628 Warsaw, Poland.
Piotr StawinskiDepartment of Medical Genetics, Medical University of Warsaw, 02-106 Warsaw, Poland.
Maria BilinskaDepartment of Arrhythmia, Institute of Cardiology, 04-628 Warsaw, Poland.
Pawel KrajewskiDepartment of Forensic Medicine, Medical University of Warsaw, 02-007 Warsaw, Poland.
Tomasz ZielinskiDepartment of Heart Failure and Transplantology, Institute of Cardiology, 04-628 Warsaw, Poland.
Anna LutynskaDepartment of Medical Biology, Institute of Cardiology, 04-628 Warsaw, Poland.
Zofia T BilinskaUnit for Screening Studies in Inherited Cardiovascular Diseases, Institute of Cardiology, 04-628 Warsaw, Poland.
Rafal PloskiDepartment of Medical Genetics, Medical University of Warsaw, 02-106 Warsaw, Poland.
Institute of Cardiology · PLMedical University of Warsaw · PL

Funding

Narodowe Centrum Nauki 2013/11/N/NZ2/02528
6 · The paper itself

Abstract

The vast majority of cardiomyopathies have an autosomal dominant inheritance; hence, genetic testing is typically offered to patients with a positive family history. A de novo mutation is a new germline mutation not inherited from either parent. The purpose of our study was to search for de novo mutations in patients with cardiomyopathy and no evidence of the disease in the family. Using next-generation sequencing, we analyzed cardiomyopathy genes in 12 probands. In 8 (66.7%), we found de novo variants in known cardiomyopathy genes (

Indexed as

cardiomyopathyde novo mutationgeneticnovel genes

Identifiers

PMID32013205
PMCPMC7073782
OpenAlexW3004293595

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.