Evidence map›Paper›PMID 42146651›Full record

ArticlebioRxiv : the preprint server for biology2026

Multi-omics profiling reveals MAGEL2-driven defects in human corticogenesis shared across Prader-Willi and Schaaf-Yang syndromes.

Jannis Buecking, Baran Enes Güler, Michael Eibl, Azmal Syed Ali, Tobias Walczuch, Tobias Beschauner, Susanne Theiss, Melanie Spanjaard, Katrin Hinderhofer, Freya Herrmann-Sim and 6 more

Abstract readPreprint
PubMed Full text at PMC Publisher
In one paragraph

Article in bioRxiv : the preprint server for biology, 2026. 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

16 authors.

Jannis BueckingInstitute of Human Genetics, Heidelberg University, Heidelberg, Germany.ORCID 0009-0003-8784-1071
Baran Enes GülerInstitute of Human Genetics, Heidelberg University, Heidelberg, Germany.
Michael EiblInstitute of Human Genetics, Heidelberg University, Heidelberg, Germany.
Azmal Syed AliDivision of Proteomics of Stem Cell and Cancer, German Cancer Research Center (DKFZ), Heidelberg, Germany.
Tobias WalczuchInstitute of Human Genetics, Heidelberg University, Heidelberg, Germany.
Tobias BeschaunerInstitute of Human Genetics, Heidelberg University, Heidelberg, Germany.
Susanne TheissInstitute of Human Genetics, Heidelberg University, Heidelberg, Germany.
Melanie SpanjaardInstitute of Human Genetics, Heidelberg University, Heidelberg, Germany.
Katrin HinderhoferInstitute of Human Genetics, Heidelberg University, Heidelberg, Germany.
Freya Herrmann-SimInstitute of Human Genetics, Heidelberg University, Heidelberg, Germany.
Celine E de EschCenter for Genomic Medicine, Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA 02114, USA.
Derek J C TaiCenter for Genomic Medicine, Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA 02114, USA.
Michael E TalkowskiCenter for Genomic Medicine, Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA 02114, USA.
Jeroen KrijgsveldDivision of Proteomics of Stem Cell and Cancer, German Cancer Research Center (DKFZ), Heidelberg, Germany.
Christian P SchaafInstitute of Human Genetics, Heidelberg University, Heidelberg, Germany.
Magdalena LaugschInstitute of Human Genetics, Heidelberg University, Heidelberg, Germany.ORCID 0009-0006-6079-7017

Funding

Molecular mechanisms and genetic drivers of reciprocal genomic disordersR01HD096326 · NICHD · MASSACHUSETTS GENERAL HOSPITAL · PI TALKOWSKI, MICHAEL E · 2018 to 2022
$3.5M
NICHD NIH HHS R01 HD096326
6 · The paper itself

Abstract

The human cortex acquires its advanced cognitive capacity through tightly regulated developmental programs, disruption of which underlies neurodevelopmental disorders such as Schaaf-Yang syndrome (SYS) and Prader-Willi syndrome (PWS). While SYS results from pathogenic variants in the imprinted gene

Identifiers

PMID42146651
PMCPMC13174559

What OpenQuestion holds

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Registered trials

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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.