Evidence map›Paper›PMID 35414575›Full record

ReviewBMJ case reports2022

Phenotypic manifestations in

Julie Loft Nagel, Aia Elise Jønch, Nina T T N Nguyen, Anette Bygum

Open access · hybridAbstract readCase ReportsReview
In one paragraph

Review in BMJ case reports, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.

0numbers the graph read from it
0cells of the map it votes in
6citing papers in PubMed
2.7field-weighted citation impact, top 11% 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

6 citing papers in PubMed, 7 citations in OpenAlex.

  1. Article
  2. A novel homozygousFrontiers in pediatrics · 2026
    Article
  3. Article
  4. Article
  5. Article
  6. Review
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

4 authors at 2 institutions in 1 country.

Julie Loft NagelFaculty of Health Sciences, University of Southern Denmark, Odense, Denmark julienagel@live.dk.ORCID http://orcid.org/0000-0003-0887-7459
Aia Elise JønchDepartment of Clinical Genetics, Odense University Hospital, Odense, Denmark.
Nina T T N NguyenDepartment of Neuroradiology, Odense University Hospital, Odense, Denmark.
Anette BygumDepartment of Clinical Genetics, Odense University Hospital, Odense, Denmark.
Odense University Hospital · DKUniversity of Southern Denmark · DK

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Periventricular nodular heterotopia (PVNH) is an X-linked disease caused by loss-of-function variants in the filamin A (

Indexed as

Periventricular Nodular HeterotopiaThrombocytopeniaFemaleFilaminsHumansMutationPhenotypeFilaminsFLNA protein, humanDermatologyGenetics

Identifiers

PMID35414575
PMCPMC9006829
OpenAlexW4223442269

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.