Evidence map›Paper›PMID 40225152›Full record

ArticleHuman mutation2023

Functional Characterization of Novel

Parker Wengryn, Karina da Costa Silveira, Connor Oborn, Carrie-Lynn Soltys, Alexander Beke, Inara Chacon-Fonseca, Nadirah Damseh, Marco Quesada Rodriguez, Ramses Badilla-Porras, Peter Kannu

Abstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Human mutation, 2023. 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. Novel Splice Variant in theDiagnostics (Basel, Switzerland) · 2025
    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.

Parker WengrynDepartment of Medical Genetics, University of Alberta, 8-39 Medical Sciences Building 8614-114 Street, Edmonton, Alberta, Canada.ORCID 0000-0001-6967-5426
Karina da Costa SilveiraDepartment of Medical Genetics, University of Alberta, 8-39 Medical Sciences Building 8614-114 Street, Edmonton, Alberta, Canada.ORCID 0000-0001-9114-9481
Connor ObornDepartment of Medical Genetics, University of Alberta, 8-39 Medical Sciences Building 8614-114 Street, Edmonton, Alberta, Canada.ORCID 0009-0001-7221-1187
Carrie-Lynn SoltysDepartment of Medical Genetics, University of Alberta, 8-39 Medical Sciences Building 8614-114 Street, Edmonton, Alberta, Canada.ORCID 0009-0005-1459-3227
Alexander BekeDepartment of Medical Genetics, University of Alberta, 8-39 Medical Sciences Building 8614-114 Street, Edmonton, Alberta, Canada.ORCID 0009-0000-9050-6061
Inara Chacon-FonsecaDepartment of Medical Genetics, University of Toronto, Toronto, Canada.ORCID 0000-0002-9482-8647
Nadirah DamsehDepartment of Medical Genetics, University of Toronto, Toronto, Canada.ORCID 0000-0002-2673-7612
Marco Quesada RodriguezMedical Genetics and Metabolics, Hospital Nacional de Niños, San José, Costa Rica.ORCID 0000-0001-6520-4096
Ramses Badilla-PorrasMedical Genetics and Metabolics, Hospital Nacional de Niños, San José, Costa Rica.ORCID 0000-0001-9209-1779
Peter KannuDepartment of Medical Genetics, University of Alberta, 8-39 Medical Sciences Building 8614-114 Street, Edmonton, Alberta, Canada.ORCID 0000-0001-5655-9805

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Scoliosis affects over four million Americans, with most cases having an idiopathic cause. Pathogenic variants in the

Indexed as

Abnormalities, MultipleHernia, DiaphragmaticMutationN-AcetylglucosaminyltransferasesScoliosisGenetic Association StudiesHumansPhenotypeN-Acetylglucosaminyltransferases

Identifiers

PMID40225152
PMCPMC11919168

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.