Evidence map›Paper›PMID 39249106›Full record

ArticleJournal of neurology2024

A multi-exon RFC1 deletion in a case of CANVAS: expanding the genetic mechanism of disease.

Kayli C Davies, Liam G Fearnley, Penny Snell, David Bourke, Stuart Mossman, Karen Kyne, Colina McKeown, Martin B Delatycki, Melanie Bahlo, Paul J Lockhart

Abstract readLetter
PubMed Publisher
In one paragraph

Article in Journal of neurology, 2024. 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
–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

1 citing paper in PubMed.

  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

10 authors.

Kayli C DaviesBruce Lefroy Centre, Murdoch Children's Research Institute, 50 Flemington Road, Parkville, VIC, 3052, Australia.
Liam G FearnleyBruce Lefroy Centre, Murdoch Children's Research Institute, 50 Flemington Road, Parkville, VIC, 3052, Australia.
Penny SnellBruce Lefroy Centre, Murdoch Children's Research Institute, 50 Flemington Road, Parkville, VIC, 3052, Australia.
David BourkeDepartment of Neurology, Wellington Hospital, Wellington, 6242, New Zealand.
Stuart MossmanDepartment of Neurology, Wellington Hospital, Wellington, 6242, New Zealand.
Karen KyneCapital and Coast District Health Board, Wellington Regional Hospital, Wellington, 6021, New Zealand.
Colina McKeownGenetic Health Service New Zealand, Wellington Hospital, Wellington, 6242, New Zealand.
Martin B DelatyckiBruce Lefroy Centre, Murdoch Children's Research Institute, 50 Flemington Road, Parkville, VIC, 3052, Australia.
Melanie BahloPopulation Health and Immunity Division, The Walter and Eliza Hall Institute of Medical Research, Parkville, 3052, Australia.
Paul J LockhartBruce Lefroy Centre, Murdoch Children's Research Institute, 50 Flemington Road, Parkville, VIC, 3052, Australia. paul.lockhart@mcri.edu.au.ORCID http://orcid.org/0000-0003-2531-8413

Funding

Medical Research Future Fund (AU) MRF2007677National Health and Medical Research Council GNT2001513
6 · The paper itself

Abstract

PubMed holds no abstract for this paper.

Identifiers

PMID39249106

What OpenQuestion holds

Textmetadata
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.