Evidence map›Paper›PMID 39842896›Full record

ArticleBMJ case reports2025

'No causative variants found': an unusual presentation of PAX2-related disorder not detected on rapid whole exome sequencing testing.

Patricia A Wells, Anna P Basu, Laura M Yates

Abstract readCase Reports
In one paragraph

Article in BMJ case reports, 2025. 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

3 authors.

Patricia A WellsNorthern Genetics Service, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.ORCID http://orcid.org/0000-0002-4838-888X
Anna P BasuPopulation Health Sciences Institute, Newcastle University, Newcastle upon Tyne, UK anna.basu@newcastle.ac.uk.ORCID http://orcid.org/0000-0002-1356-3027
Laura M YatesNorthern Genetics Service, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.ORCID http://orcid.org/0000-0002-7963-625X

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Paired box 2 (

Indexed as

ColobomaPAX2 Transcription FactorVesico-Ureteral RefluxExome SequencingGenetic TestingHumansMalePhenotypeRenal InsufficiencyPAX2 protein, humanPAX2 Transcription FactorGeneticsNeuro geneticsOphthalmologyPediatricsRenal medicine

Identifiers

PMID39842896
PMCPMC11774072

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.