Evidence map›Paper›PMID 39595626›Full record

ArticleBiomolecules2024

Copy Number Variants in Cardiac Channelopathies: Still a Missed Part in Routine Arrhythmic Diagnostics.

Maria Gnazzo, Giovanni Parlapiano, Francesca Di Lorenzo, Daniele Perrino, Silvia Genovese, Valentina Lanari, Daniela Righi, Federica Calì, Massimo Stefano Silvetti, Elena Falcone and 4 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Biomolecules, 2024. 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. Review
  2. Review
  3. 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

14 authors.

Maria GnazzoLaboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, 00165 Rome, Italy.ORCID 0000-0003-0764-686X
Giovanni ParlapianoCardiogenetic Center, Rare Diseases and Medical Genetics Units, Bambino Gesù Children's Hospital, IRCCS, 00165 Rome, Italy.ORCID 0000-0002-2275-9670
Francesca Di LorenzoCardiogenetic Center, Rare Diseases and Medical Genetics Units, Bambino Gesù Children's Hospital, IRCCS, 00165 Rome, Italy.
Daniele PerrinoLaboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, 00165 Rome, Italy.ORCID 0000-0002-7561-7406
Silvia GenoveseLaboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, 00165 Rome, Italy.ORCID 0000-0002-5514-5018
Valentina LanariLaboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, 00165 Rome, Italy.
Daniela RighiPediatric Cardiology and Arrhythmia/Syncope Complex Unit, Bambino Gesù Children's Hospital, IRCCS, 00165 Rome, Italy.
Federica CalìPediatric Cardiology and Arrhythmia/Syncope Complex Unit, Bambino Gesù Children's Hospital, IRCCS, 00165 Rome, Italy.
Massimo Stefano SilvettiPediatric Cardiology and Arrhythmia/Syncope Complex Unit, Bambino Gesù Children's Hospital, IRCCS, 00165 Rome, Italy.ORCID 0000-0001-9284-5972
Elena FalconeBiogenet, Medical and Forensic Genetics Laboratory, 87100 Cosenza, Italy.
Alessia BauleoBiogenet, Medical and Forensic Genetics Laboratory, 87100 Cosenza, Italy.
Fabrizio DragoPediatric Cardiology and Arrhythmia/Syncope Complex Unit, Bambino Gesù Children's Hospital, IRCCS, 00165 Rome, Italy.ORCID 0000-0003-1888-373X
Antonio NovelliLaboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, 00165 Rome, Italy.ORCID 0000-0002-9037-4297
Anwar BabanCardiogenetic Center, Rare Diseases and Medical Genetics Units, Bambino Gesù Children's Hospital, IRCCS, 00165 Rome, Italy.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Inherited cardiac channelopathies are major causes of sudden cardiac death (SCD) in young people. Genetic testing is focused on the identification of single-nucleotide variants (SNVs) by Next-Generation Sequencing (NGS). However, genetically elusive cases can carry copy number variants (CNVs), which need specific detection tools. We underlie the utility of identifying CNVs by investigating the literature data and internally analyzing cohorts with CNVs in

Indexed as

Arrhythmias, CardiacChannelopathiesDNA Copy Number VariationsNAV1.5 Voltage-Gated Sodium ChannelRyanodine Receptor Calcium Release ChannelAdolescentAdultChildERG1 Potassium ChannelFemaleGenetic TestingHigh-Throughput Nucleotide SequencingHumansKCNQ1 Potassium ChannelMaleERG1 Potassium ChannelKCNH2 protein, humanKCNQ1 Potassium ChannelKCNQ1 protein, humanNAV1.5 Voltage-Gated Sodium ChannelRyanodine Receptor Calcium Release ChannelRyR2 protein, humanSCN5A protein, humanBrugadacatecholaminergic polymorphic ventricular tachycardiachannelopathiescopy number variantslong QT

Identifiers

PMID39595626
PMCPMC11592175

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Registered trials

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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.