Evidence map›Paper›PMID 33916386›Full record

ArticleGenes2021

Intragenic Deletions in

Kaya Fukushima, Padmini Parthasarathy, Emma M Wade, Tim Morgan, Kalpana Gowrishankar, David M Markie, Stephen P Robertson

Open access · goldAbstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Genes, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed, 1 pooled it
0.5field-weighted citation impact, top 30% 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

3 citing papers in PubMed, 1 synthesis or guideline pooled it, 3 citations in OpenAlex.

  1. Filamin B (Genes · 2026
    Pooled it
  2. Article
  3. NovelJournal of pediatric genetics · 2024
    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

7 authors at 2 institutions in 2 countries.

Kaya FukushimaDepartment of Women's and Children's Health, Dunedin School of Medicine, University of Otago, Dunedin 9016, New Zealand.ORCID 0000-0002-4331-8292
Padmini ParthasarathyDepartment of Women's and Children's Health, Dunedin School of Medicine, University of Otago, Dunedin 9016, New Zealand.
Emma M WadeDepartment of Women's and Children's Health, Dunedin School of Medicine, University of Otago, Dunedin 9016, New Zealand.ORCID 0000-0003-2990-0232
Tim MorganDepartment of Women's and Children's Health, Dunedin School of Medicine, University of Otago, Dunedin 9016, New Zealand.
Kalpana GowrishankarDepartment of Medical Genetics, Apollo Hospitals, Chennai 600034, India.
David M MarkieDepartment of Pathology, Dunedin School of Medicine, University of Otago, Dunedin 9016, New Zealand.
Stephen P RobertsonDepartment of Women's and Children's Health, Dunedin School of Medicine, University of Otago, Dunedin 9016, New Zealand.ORCID 0000-0002-5181-7809
University of Otago · NZApollo Hospitals · IN

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Spondylocarpotarsal synostosis syndrome (SCT) is characterized by vertebral fusions, a disproportionately short stature, and synostosis of carpal and tarsal bones. Pathogenic variants in

Indexed as

Gene DeletionMutationAbnormalities, MultipleAdultChildFemaleFilaminsHumansLumbar VertebraeMaleMusculoskeletal DiseasesPedigreeScoliosisSyndromeSynostosisThoracic VertebraeFilaminsFLNB protein, humanfilamin BFLNBSCTspondylocarpotarsal synostosis syndrome

Identifiers

PMID33916386
PMCPMC8065484
OpenAlexW3149794883

What OpenQuestion holds

Textmetadata
LicenceCC BY
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.