Evidence map›Paper›PMID 42311236›Full record

ArticleHuman mutation2026

Functional Analyses in Patient-Derived Neurons Establish Pathogenicity for

Sylvia Korhorn, Additya Sharma, Jan J Sprengers, Shilpa Anand, Jennifer R Ramautar, Klaus Linkenkaer-Hansen, Hilgo Bruining, Ruud F Toonen, Matthijs Verhage, Mala Misra-Isrie

Abstract readCase Reports
In one paragraph

Article in Human mutation, 2026. 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. 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.

Sylvia KorhornDepartment of Functional Genomics, Center for Neurogenomics and Cognitive Research (CNCR), Vrije Universiteit Amsterdam, Amsterdam, the Netherlands, vu.nl.ORCID https://orcid.org/0009-0006-3521-2275
Additya SharmaDepartment of Functional Genomics, Center for Neurogenomics and Cognitive Research (CNCR), Vrije Universiteit Amsterdam, Amsterdam, the Netherlands, vu.nl.
Jan J SprengersDepartment of Integrative Neurophysiology, Center for Neurogenomics and Cognitive Research (CNCR), Vrije Universiteit Amsterdam, Amsterdam, the Netherlands, vu.nl.ORCID https://orcid.org/0000-0001-5418-9791
Shilpa AnandChild and Adolescent Psychiatry and Psychosocial Care, Emma Children's Hospital, Amsterdam UMC, Amsterdam, the Netherlands, amc.nl.
Jennifer R RamautarDepartment of Integrative Neurophysiology, Center for Neurogenomics and Cognitive Research (CNCR), Vrije Universiteit Amsterdam, Amsterdam, the Netherlands, vu.nl.ORCID https://orcid.org/0000-0003-2341-0240
Klaus Linkenkaer-HansenDepartment of Functional Genomics, Center for Neurogenomics and Cognitive Research (CNCR), Vrije Universiteit Amsterdam, Amsterdam, the Netherlands, vu.nl.ORCID https://orcid.org/0000-0003-2140-9780
Hilgo BruiningDepartment of Integrative Neurophysiology, Center for Neurogenomics and Cognitive Research (CNCR), Vrije Universiteit Amsterdam, Amsterdam, the Netherlands, vu.nl.ORCID https://orcid.org/0000-0003-0660-1969
Ruud F ToonenDepartment of Functional Genomics, Center for Neurogenomics and Cognitive Research (CNCR), Vrije Universiteit Amsterdam, Amsterdam, the Netherlands, vu.nl.ORCID https://orcid.org/0000-0002-9900-4233
Matthijs VerhageDepartment of Functional Genomics, Center for Neurogenomics and Cognitive Research (CNCR), Vrije Universiteit Amsterdam, Amsterdam, the Netherlands, vu.nl.ORCID https://orcid.org/0000-0002-6085-7503
Mala Misra-IsrieDepartment of Human Genetics, Amsterdam UMC, Amsterdam, the Netherlands, amc.nl.ORCID https://orcid.org/0000-0003-2104-2667

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Pathogenic

Indexed as

Munc18 ProteinsMutationNeuronsExonsFemaleHumansRNA Splice SitesMunc18 ProteinsRNA Splice SitesSTXBP1 protein, humancase reportfunctional validationIPSC-derived neuronsspice-site variantSTXBP1-RD

Identifiers

PMID42311236
PMCPMC13270418

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.