Evidence map›Paper›PMID 42483269›Full record

ArticleBMJ neurology open2026

Case of Aicardi-Goutières syndrome diagnosed in adulthood on whole-genome sequencing.

Lewis Cobb, Jayant Kumar, Amit Roy, Sarah Walsh, Una-Marie Sheerin

Abstract read
In one paragraph

Article in BMJ neurology open, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing 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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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.

Lewis CobbDepartment of Neurology, Guy's and St Thomas' NHS Foundation Trust, London, UK.ORCID https://orcid.org/0009-0004-6860-0499
Jayant KumarDepartment of Neuroradiology, Guy's and St Thomas' NHS Foundation Trust, London, UK.
Amit RoyDepartment of Neuroradiology, Guy's and St Thomas' NHS Foundation Trust, London, UK.
Sarah WalshDepartment of Dermatology, King's College London, London, UK.
Una-Marie SheerinDepartment of Neurology, Guy's and St Thomas' NHS Foundation Trust, London, UK.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

PubMed holds no abstract for this paper.

Indexed as

CLINICAL NEUROLOGYNEUROGENETICS

Identifiers

PMID42483269
PMCPMC13386073

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC
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.