Evidence map›Paper›PMID 37082147›Full record

ArticleCell genomics2023

Convergent coexpression of autism-associated genes suggests some novel risk genes may not be detectable in large-scale genetic studies.

Calwing Liao, Mariana Moyses-Oliveira, Celine E F De Esch, Riya Bhavsar, Xander Nuttle, Aiqun Li, Alex Yu, Nicholas D Burt, Serkan Erdin, Jack M Fu and 10 more

Open access · goldAbstract read
In one paragraph

Article in Cell genomics, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
19citing papers in PubMed, 1 pooled it
3.5field-weighted citation impact, top 7% 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

19 citing papers in PubMed, 1 synthesis or guideline pooled it, 20 citations in OpenAlex.

  1. Valproate Exposure as anCNS & neurological disorders drug targets · 2025
    Pooled it
  2. Article
  3. Article
  4. Article
  5. Article
  6. Article
  7. Article
  8. Article
  9. Article
  10. Article
  11. CRISPR-engineered deletion ofbioRxiv : the preprint server for biology · 2025
    Article
  12. Article
  13. Transcriptomic Convergence and the Female Protective Effect in Autism.bioRxiv : the preprint server for biology · 2025
    Article
  14. Review
  15. Article
  16. Article
  17. Autism risk genes converge onbioRxiv : the preprint server for biology · 2025
    Article
  18. Article
  19. Review
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

20 authors at 5 institutions in 2 countries.

Calwing LiaoDepartment of Human Genetics, McGill University, Montreal, QC, Canada.
Mariana Moyses-OliveiraCenter for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114, USA.
Celine E F De EschCenter for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114, USA.
Riya BhavsarCenter for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114, USA.
Xander NuttleCenter for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114, USA.
Aiqun LiDepartment of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.
Alex YuDepartment of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.
Nicholas D BurtCenter for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114, USA.
Serkan ErdinCenter for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114, USA.
Jack M FuCenter for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114, USA.
Minghui WangDepartment of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.
Theodore MorleyDivision of Genetic Medicine, Department of Medicine, Vanderbilt Genetics Institute, Vanderbilt University Medical Center, 1211 Medical Center Dr., Nashville, TN 37232, USA.
Lide HanDivision of Genetic Medicine, Department of Medicine, Vanderbilt Genetics Institute, Vanderbilt University Medical Center, 1211 Medical Center Dr., Nashville, TN 37232, USA.
CommonMind Consortium
Patrick A DionMontreal Neurological Institute-Hospital, McGill University, Montreal, QC, Canada.
Guy A RouleauMontreal Neurological Institute-Hospital, McGill University, Montreal, QC, Canada.
Bin ZhangDepartment of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.
Kristen J BrennandDepartment of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.
Michael E TalkowskiCenter for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114, USA.
Douglas M RuderferDivision of Genetic Medicine, Department of Medicine, Vanderbilt Genetics Institute, Vanderbilt University Medical Center, 1211 Medical Center Dr., Nashville, TN 37232, USA.
Broad Institute · USIcahn School of Medicine at Mount Sinai · USMontreal Neurological Institute and Hospital · CAVanderbilt University Medical Center · USAllen Institute for Brain Science · US

Funding

Functional convergence following disruption of diverse genes associated with neurodevelopmental disordersR01MH123155 · NIMH · YALE UNIVERSITY · PI BRENNAND, KRISTEN JENNIFER, RUDERFER, DOUGLAS · 2021 to 2025
$4.1M
NIMH NIH HHS R01 MH123155
6 · The paper itself

Abstract

Autism spectrum disorder (ASD) is a heritable neurodevelopmental disorder characterized by deficits in social interactions and communication. Protein-altering variants in many genes have been shown to contribute to ASD; however, understanding the convergence across many genes remains a challenge. We demonstrate that coexpression patterns from 993 human postmortem brains are significantly correlated with the transcriptional consequences of CRISPR perturbations in human neurons. Across 71 ASD risk genes, there was significant tissue-specific convergence implicating synaptic pathways. Tissue-specific convergence was further demonstrated across schizophrenia and atrial fibrillation risk genes. The degree of ASD convergence was significantly correlated with ASD association from rare variation and differential expression in ASD brains. Positively convergent genes showed intolerance to functional mutations and had shorter coding lengths than known risk genes even after removing association with ASD. These results indicate that convergent coexpression can identify potentially novel genes that are unlikely to be discovered by sequencing studies.

Indexed as

autismautism spectrum disordercoexpressionconvergenceCRISPRexomegeneticsgenomegenomicstranscriptomics

Identifiers

PMID37082147
PMCPMC10112287
OpenAlexW4323660523

What OpenQuestion holds

Textmetadata
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.