Evidence map›Paper›PMID 36834931›Full record

ArticleInternational journal of molecular sciences2023

Novel Variants of

Martin Grosse, Alma Kuechler, Tabib Dabir, Stephanie Spranger, Stefanie Beck-Wödl, Miriam Bertrand, Tobias B Haack, Corinna Grasemann, Eva Manka, Christel Depienne and 1 more

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

Article in International journal of molecular sciences, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed
1.3field-weighted citation impact, top 18% 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

5 citing papers in PubMed, 4 citations in OpenAlex.

  1. Three Novel de NovoGenes · 2026
    Review
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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

11 authors at 4 institutions in 2 countries.

Martin GrosseInstitute of Human Genetics, University Hospital Essen, University of Duisburg-Essen, 47057 Duisburg, Germany.
Alma KuechlerInstitute of Human Genetics, University Hospital Essen, University of Duisburg-Essen, 47057 Duisburg, Germany.
Tabib DabirNorthern Ireland Regional Genetics Service, Belfast City Hospital, Belfast BT9 7AB, UK.
Stephanie SprangerLimbach Genetics, 28209 Bremen, Germany.
Stefanie Beck-WödlMedical Genetics and Applied Genomics, University of Tuebingen, 72076 Tuebingen, Germany.
Miriam BertrandMedical Genetics and Applied Genomics, University of Tuebingen, 72076 Tuebingen, Germany.
Tobias B HaackMedical Genetics and Applied Genomics, University of Tuebingen, 72076 Tuebingen, Germany.ORCID 0000-0001-6033-4836
Corinna GrasemannDepartment of Pediatrics, Faculty of Medicine, Ruhr University of Bochum, 44791 Bochum, Germany.
Eva MankaCenter for Rare Disease Essen (Essener Zentrum für Seltene Erkrankungen-EZSE), Universitätsmedizin Essen, 45147 Essen, Germany.
Christel DepienneInstitute of Human Genetics, University Hospital Essen, University of Duisburg-Essen, 47057 Duisburg, Germany.ORCID 0000-0002-7212-9554
Frank J KaiserInstitute of Human Genetics, University Hospital Essen, University of Duisburg-Essen, 47057 Duisburg, Germany.
University of Duisburg-Essen · DEUniversity of Tübingen · DERuhr University Bochum · DEUniversity of Ulster · GB

Funding

Wellcome Trust
6 · The paper itself

Abstract

SOX4 is a transcription factor with pleiotropic functions required for different developmental processes, such as corticogenesis. As with all SOX proteins, it contains a conserved high mobility group (HMG) and exerts its function via interaction with other transcription factors, such as POU3F2. Recently, pathogenic

Indexed as

Abnormalities, MultipleIntellectual DisabilitySOXC Transcription FactorsFaceGene Expression RegulationHand Deformities, CongenitalHumansMicrognathismNeckTranscription FactorsSOX4 protein, humanSOXC Transcription FactorsTranscription Factorshigh mobility group (HMG)intellectual disabilityneurodevelopmental delaySOX4

Identifiers

PMID36834931
PMCPMC9964377
OpenAlexW4319923040

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.