Evidence map›Paper›PMID 30314295›Full record

ArticleInternational journal of molecular sciences2018

Whole-Exome Sequencing Implicates

Neven Maksemous, Robert A Smith, Heidi G Sutherland, Hugo Sampaio, Lyn R Griffiths

Open access · goldAbstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in International journal of molecular sciences, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
7citing papers in PubMed, 1 pooled it
0.6field-weighted citation impact, top 36% 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

7 citing papers in PubMed, 1 synthesis or guideline pooled it, 14 citations in OpenAlex.

  1. Episodic Ataxias: Primary and Secondary Etiologies, Treatment, and Classification Approaches.Tremor and other hyperkinetic movements (New York, N.Y.) · 2023
    Pooled it
  2. Microduplication ofYonago acta medica · 2024
    Article
  3. Article
  4. Properties of Calmodulin Binding to NaNeurochemical research · 2021
    Article
  5. Article
  6. Article
  7. Child neurology open
    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

5 authors at 2 institutions in 1 country.

Neven MaksemousGenomics Research Centre, Institute of Health and Biomedical Innovation (IHBI), School of Biomedical Sciences, Queensland University of Technology (QUT), Q Block, 60 Musk Ave, Kelvin Grove Campus, Brisbane 4059, QLD, Australia. n.maksemous@qut.edu.au.
Robert A SmithGenomics Research Centre, Institute of Health and Biomedical Innovation (IHBI), School of Biomedical Sciences, Queensland University of Technology (QUT), Q Block, 60 Musk Ave, Kelvin Grove Campus, Brisbane 4059, QLD, Australia. r157.smith@qut.edu.au.
Heidi G SutherlandGenomics Research Centre, Institute of Health and Biomedical Innovation (IHBI), School of Biomedical Sciences, Queensland University of Technology (QUT), Q Block, 60 Musk Ave, Kelvin Grove Campus, Brisbane 4059, QLD, Australia. heidi.sutherland@qut.edu.au.
Hugo SampaioDepartment of Women and Children's Health, Randwick Campus, University of New South Wales, Randwick 2031, NSW, Australia. hugo.sampaio@health.nsw.gov.au.
Lyn R GriffithsGenomics Research Centre, Institute of Health and Biomedical Innovation (IHBI), School of Biomedical Sciences, Queensland University of Technology (QUT), Q Block, 60 Musk Ave, Kelvin Grove Campus, Brisbane 4059, QLD, Australia. lyn.griffiths@qut.edu.au.
Queensland University of Technology · AUUNSW Sydney · AU

Funding

Australian Research Council EIF Super Science - Equipment InfrastructureNational Health and Medical Research Council APP1122387NCRIS Therapuetic Innovation Australia NCRIS 2016 TIA
6 · The paper itself

Abstract

Although the clinical use of targeted gene sequencing-based diagnostics is valuable, whole-exome sequencing has also emerged as a successful diagnostic tool in molecular genetics laboratories worldwide. Molecular genetic tests for episodic ataxia type 2 (EA2) usually target only the specific calcium channel gene (

Indexed as

Genetic Association StudiesGenetic Predisposition to DiseaseGenetic VariationPhenotypeAdolescentAdultAtaxiaCalcium ChannelsDNA Mutational AnalysisExome SequencingHumansMaleModels, MolecularMutationNAV1.2 Voltage-Gated Sodium ChannelPedigreeCalcium ChannelsNAV1.2 Voltage-Gated Sodium ChannelSCN2A protein, humanacetazolamideepisodic ataxiaKCNC2SCN2ASCN8Awhole-exome sequencing

Identifiers

PMID30314295
PMCPMC6213185
OpenAlexW2897671934

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.