Evidence map›Paper›PMID 40967226›Full record

ArticleCell genomics2025

Cell-type-specific dysregulation of gene expression due to Chd8 haploinsufficiency during mouse cortical development.

Kristina M Yim, Marybeth Baumgartner, Martina Krenzer, María F Rosales Larios, Guillermina Hill-Terán, Timothy Nottoli, Rebecca A Muhle, James P Noonan

Abstract read
In one paragraph

Article in Cell genomics, 2025. 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
–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

5 citing papers in PubMed.

  1. Article
  2. Article
  3. Article
  4. bioRxiv : the preprint server for biology · 2026
    Article
  5. Article
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

8 authors.

Kristina M YimDepartment of Genetics, Yale School of Medicine, New Haven, CT 06510, USA.
Marybeth BaumgartnerDepartment of Genetics, Yale School of Medicine, New Haven, CT 06510, USA.
Martina KrenzerDepartment of Genetics, Yale School of Medicine, New Haven, CT 06510, USA.
María F Rosales LariosDepartment of Genetics, Yale School of Medicine, New Haven, CT 06510, USA.
Guillermina Hill-TeránDepartment of Genetics, Yale School of Medicine, New Haven, CT 06510, USA.
Timothy NottoliDepartment of Comparative Medicine, Yale School of Medicine, New Haven, CT 06510, USA; Yale Genome Editing Center, Yale School of Medicine, New Haven, CT 06510, USA.
Rebecca A MuhleChild Study Center, Yale School of Medicine, New Haven, CT 06520, USA.
James P NoonanDepartment of Genetics, Yale School of Medicine, New Haven, CT 06510, USA; Department of Neuroscience, Yale School of Medicine, New Haven, CT 06510, USA; Wu Tsai Institute, Yale University, New Haven, CT 06510, USA. Electronic address: james.noonan@yale.edu.

Funding

GENETICS AND GENOMICS OF HUMAN DISEASET32HD007149 · NICHD · YALE UNIVERSITY · PI James P Noonan · 1985 to 2026
$8.2M
Identifying enhancers with human-specific developmental functionsR01GM094780 · NIGMS · YALE UNIVERSITY · PI NOONAN, JAMES P · 2010 to 2018
$5.8M
Research Training for Medical Students & Physician-Scientists in Child PsychiatryR25MH077823 · NIMH · YALE UNIVERSITY · PI ANDRES S MARTIN · 2006 to 2026
$4.0M
Modeling uniquely human developmental gene regulatory networks using humanized miceR01HD102030 · NICHD · YALE UNIVERSITY · PI NOONAN, JAMES P · 2020 to 2024
$2.8M
IMPACT OF LOSS OF THE AUTISM RISK GENE CHD8 ON EXPRESSION, EPIGENETICS AND CELLULAR FUNCTIONING OF THE DOPAMINERGIC SYSTEMR01MH130372 · NIMH · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI Rebecca Ann Muhle · 2023 to 2026
$2.8M
Mapping Regulatory Networks of Autism Risk at Cellular Resolution during NeurodevelopmentK08MH115164 · NIMH · YALE UNIVERSITY · PI MUHLE, REBECCA ANN · 2017 to 2021
$658k
NICHD NIH HHS R01 HD102030NICHD NIH HHS T32 HD007149NIGMS NIH HHS R01 GM094780NIMH NIH HHS K08 MH115164NIMH NIH HHS L40 MH098413NIMH NIH HHS R01 MH130372NIMH NIH HHS R25 MH077823
6 · The paper itself

Abstract

Disruptive variants in the chromodomain helicase CHD8 are associated with risk for autism spectrum disorder (ASD). CHD8 haploinsufficiency is hypothesized to contribute to ASD by perturbing neurodevelopmental gene expression. However, insight into cell-type-specific transcriptional effects of CHD8 haploinsufficiency remains limited. We used single-cell and single-nucleus RNA sequencing to identify dysregulated genes in the embryonic and juvenile Chd8

Indexed as

Cerebral CortexDNA-Binding ProteinsGene Expression Regulation, DevelopmentalHaploinsufficiencyTranscription FactorsAnimalsAutism Spectrum DisorderHumansMiceNeuronsDNA-Binding Proteinsduplin protein, mouseTranscription FactorsASDautism spectrum disorderCHD8cortical developmentgene regulationmouse modelneurodevelopmentneurodevelopmental disorderssingle-cell transcriptomics

Identifiers

PMID40967226
PMCPMC12648110

What OpenQuestion holds

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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.