Evidence map›Paper›PMID 41502569›Full record

ArticleResearch square2025

Characterization of CTNND2-related neurodevelopmental disease, phenotype-genotype spectrum and WNT dynamics in early neurogenesis.

Mansoureh Shahsavani, Josephine Wincent, Ricarda Reiter, Andrea Soltysova, Jakob Schuy, Hafdis T Helgadottir, Jesper Eisfeldt, Marlene Ek, Andrej Ficek, Lotta Druschke and 63 more

Abstract readPreprint
In one paragraph

Article in Research square, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing 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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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

73 authors.

Mansoureh ShahsavaniKarolinska Institutet.
Josephine WincentKarolinska Institutet.
Ricarda ReiterJohannes Kepler University of Linz.
Andrea SoltysovaComenius University Bratislava.
Jakob SchuyKarolinska Institutet.
Hafdis T HelgadottirKarolinska Institutet.
Jesper EisfeldtKarolinska University Hospital.
Marlene EkKarolinska Institutet.
Andrej FicekComenius University Bratislava.
Lotta DruschkeKarolinska Institutet.
Katarina KusikovaComenius University and National Institute of Childreńs Diseases.
Tzung-Chien HsiehUniversity Hospital Bonn, Rheinische Friedrich-Wilhelms-Universität Bonn.
Aron KrichhoffUniversity Hospital Bonn, Rheinische Friedrich-Wilhelms-Universität Bonn.
Peter KrawitzUniversity Hospital Bonn, Rheinische Friedrich-Wilhelms-Universität Bonn.
Jing-Mei LiUniversity Hospital Bonn, Rheinische Friedrich-Wilhelms-Universität Bonn.
Gerald WebersinkeOrdensklinikum Linz Barmherzige Schwestern.
Svetlana GorokhovaLa Timone Children Hospital, AP-HM.
Chantal MissirianLa Timone Children Hospital, AP-HM.
Florence RiccardiAix-Marseille University.
Lisa PavinatoBellinzona Institutes of Science (BIOS+).
Alfredo BruscoRita Levi-Montalcini, University of Torino.
Giorgia MandrileSan Luigi University Hospital, University of Torino.
Slavica TrajkovaRita Levi-Montalcini, University of Torino.
Francesco PintusUniversity of Turin.
Biljana GagachovskaUniversity Clinic of Psychiatry, Faculty of Medicine, Ss. Cyril and Methodius University.
Quinten WaisfiszAmsterdam UMC, Vrije Universiteit Amsterdam.
Annet van HagenAmsterdam UMC, Vrije Universiteit Amsterdam.
Emma BedoukianChildren's Hospital of Philadelphia.
Kosuke IzumiChildren's Hospital of Philadelphia.
Leslie GrangerUniversity Medical Center Utrecht.
Andrea PetersenUniversity Medical Center Utrecht.
Renske OegemaUniversity Medical Center Utrecht.
Manon HuibersUniversity Medical Center Utrecht.
Florence DemurgerCentre hospitalier Bretagne Atlantique.
Elise Brischoux-BoucherUniversité Marie et Louis Pasteur.
Sophie JuliaCHU Purpan.
Guillaume BanneauCHU Purpan.
M Jesus ZavalaUniversidad del Desarrollo.
Catalina LagosUniversidad del Desarrollo.
Gabriela M RepettoUniversidad del Desarrollo.
Guillaume JouretLaboratoire National de Santé.
Catherine KentrosColumbia University.
Mythily GanapathiColumbia University Irving Medical Center.
Wendy K ChungHarvard Medical School.
Halie MayColumbia University Irving Medical Center.
Susan M HiattHuntsville, AL.
Whitley V KelleyHuntsville, AL.
Alisa FörsterHannover Medical School.
Lisa OlfeHannover Medical School.
Amelle ShillingtonUniversity of Cincinnati College of Medicine.
Benjamin DauriatHôpital Mère-Enfant.
Sandra MercierCentre Hospitalier Universitaire de Nantes.
Benjamin CognéCentre Hospitalier Universitaire de Nantes.
Camille EngelUniversité Bourgogne Franche-Comté.
Eric DahlenCentre Hospitalier Universitaire de Besançon.
Georg RosenbergerUniversity Medical Center Hamburg-Eppendorf.
Thomas SauvignyUniversity Medical Center Hamburg-Eppendorf.
Hamza Hadj AbdallahHôpital Necker-Enfants Malades.
Thomas CourtinHôpital Necker-Enfants Malades.
Asbjørg Stray-PedersenOslo University Hospital.
John A BernatUniversity of Iowa Health Care.
Vitoria K PaolilloChildren's Mercy Hospital.
Florencia Del VisoChildren's Mercy Hospital.
Joseph T AlaimoChildren's Mercy Hospital.
Isabelle ThiffaultChildren's Mercy Hospital.
Emily G FarrowChildren's Mercy Hospital.
Ana S A CohenChildren's Mercy Hospital.
Serge WeisJohannes Kepler University of Linz.
Hans-Christoph DubaJohannes Kepler University of Linz.
Ann NordgrenKarolinska Institutet.
Anna FalkKarolinska Institutet.
Denisa WeisJohannes Kepler University of Linz.
Anna LindstrandKarolinska Institutet.

Funding

Genomic Diagnosis in Children with Developmental DelayUM1HG007301 · NHGRI · HUDSON-ALPHA INSTITUTE FOR BIOTECHNOLOGY · PI COOPER, GREGORY MICHAEL, MYERS, RICHARD M · 2013 to 2016
$7.5M
NHGRI NIH HHS UM1 HG007301
6 · The paper itself

Abstract

Background: Heterozygous variants in Methods: Through international collaboration, we assembled the phenotypic and molecular information for 57 individuals, 42 previously unpublished, carrying heterozygous Results: The 41 Conclusions: This study defines the clinical symptoms of

Indexed as

CRISPR-Cas9CTNND2early neurogenesisinduced pluripotent stem cellsneurodevelopmental disorderWNT signalingδ-catenin

Identifiers

PMID41502569
PMCPMC12772691

What Socratic 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 Socratic graph.