Evidence map›Paper›PMID 36376020›Full record

ArticleJournal of neurology, neurosurgery, and psychiatry2023

Beware next-generation sequencing gene panels as the first-line genetic test in Charcot-Marie-Tooth disease.

Christopher J Record, Menelaos Pipis, Roy Poh, James M Polke, Mary M Reilly

Open access · greenAbstract readLetter
In one paragraph

Article in Journal of neurology, neurosurgery, and psychiatry, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
0.2field-weighted citation impact, top 55% 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

1 citing paper in PubMed, 2 citations in OpenAlex.

  1. 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.

Christopher J RecordDepartment of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.ORCID 0000-0002-9802-2683
Menelaos PipisDepartment of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.ORCID 0000-0003-0511-6515
Roy PohNeurogenetics Laboratory, UCL Queen Square Institute of Neurology, London, UK.
James M PolkeNeurogenetics Laboratory, UCL Queen Square Institute of Neurology, London, UK.ORCID 0000-0002-9091-7132
Mary M ReillyDepartment of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK m.reilly@ucl.ac.uk.ORCID 0000-0003-0686-905X
National Hospital for Neurology and Neurosurgery · GBMRC Prion Unit · GB

Funding

trainingU54NS065712 · NINDS · WAYNE STATE UNIVERSITY · PI SHY, MICHAEL E. · 2009 to 2023
$19.6M
Accelerate Clinical Trials in CMT (ACTCMT) StudyU01NS109403 · NINDS · UNIVERSITY OF ROCHESTER · PI HERRMANN, DAVID N · 2019 to 2023
$6.4M
Clinical Trial Readiness for Rare Diseases, Disorders and SyndromesR21TR003034 · NCATS · UNIVERSITY OF IOWA · PI SHY, MICHAEL E. · 2019 to 2020
$418k
Cancer Research UKDepartment of HealthMedical Research Council MR/S005021/1NCATS NIH HHS R21 TR003034NINDS NIH HHS U01 NS109403NINDS NIH HHS U54 NS065712Wellcome Trust
6 · The paper itself

Abstract

PubMed holds no abstract for this paper.

Indexed as

Charcot-Marie-Tooth DiseaseGenetic TestingHigh-Throughput Nucleotide SequencingHumansMutationGENETICSHMSN (CHARCOT-MARIE-TOOTH)NEUROGENETICSNEUROPATHY

Identifiers

PMID36376020
PMCPMC10023303
OpenAlexW4308993643

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.