Evidence map›Paper›PMID 35440779›Full record

ReviewNature reviews. Neuroscience2022

Genomics, convergent neuroscience and progress in understanding autism spectrum disorder.

Helen Rankin Willsey, A Jeremy Willsey, Belinda Wang, Matthew W State

Abstract readReview
In one paragraph

Review in Nature reviews. Neuroscience, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 137 papers, 4 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
137citing papers in PubMed, 4 pooled it
–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

137 citing papers in PubMed, 4 syntheses or guidelines pooled it.

  1. Pooled it
  2. Pooled it
  3. Pooled it
  4. Pooled it
  5. Article
  6. Genes · 2026
    Article
  7. International journal of molecular sciences · 2026
    Review
  8. Article
  9. Article
  10. Review
  11. Article
  12. Article
  13. Zebrafish frk Gene Knockout Shows Social Impairments Relevant to Autism and Delays Brain Development by Increasing Cell Proliferation.Autism research : official journal of the International Society for Autism Research · 2026
    Article
  14. Article
  15. Article
  16. Diverse excess GABA modes drive autism and epilepsy-autism comorbidity.Journal of neural transmission (Vienna, Austria : 1996) · 2026
    Article
  17. Article
  18. Review
  19. Article
  20. Article

77 more citing papers are in PubMed but not listed here.

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

4 authors.

Helen Rankin Willsey *Department of Psychiatry and Behavioral Sciences, UCSF Weill Institute for Neurosciences, University of California, San Francisco, San Francisco, CA, USA.
A Jeremy Willsey *Department of Psychiatry and Behavioral Sciences, UCSF Weill Institute for Neurosciences, University of California, San Francisco, San Francisco, CA, USA. jeremy.willsey@ucsf.edu.
Belinda WangDepartment of Psychiatry and Behavioral Sciences, UCSF Weill Institute for Neurosciences, University of California, San Francisco, San Francisco, CA, USA.
Matthew W StateDepartment of Psychiatry and Behavioral Sciences, UCSF Weill Institute for Neurosciences, University of California, San Francisco, San Francisco, CA, USA. matthew.state@ucsf.edu.ORCID http://orcid.org/0000-0003-1624-8302

Funding

The Psychiatric Cell Map Initiative: Connecting Genomics, Subcellular Networks, and Higher Order PhenotypesU01MH115747 · NIMH · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI KAMPMANN, MARTIN, KROGAN, NEVAN J · 2018 to 2022
$19.6M
TRAINING THE NEXT GENERATION OF MENTAL HEALTH RESEARCHERSR25MH060482 · NIMH · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI DANIEL H MATHALON, Susan M. Voglmaier · 2000 to 2026
$5.2M
2/7-Collaborative genomic studies of Tourette DisorderR01MH115963 · NIMH · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI STATE, MATTHEW W. · 2018 to 2022
$4.9M
2/2 - Cell Type and Region-Specific Regulatory Networks in Human Brain Development and DisordersU01MH116487 · NIMH · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI STATE, MATTHEW W. · 2018 to 2022
$2.3M
NIMH NIH HHS R01 MH115963NIMH NIH HHS R25 MH060482NIMH NIH HHS U01 MH115747NIMH NIH HHS U01 MH116487
6 · The paper itself

Abstract

More than a hundred genes have been identified that, when disrupted, impart large risk for autism spectrum disorder (ASD). Current knowledge about the encoded proteins - although incomplete - points to a very wide range of developmentally dynamic and diverse biological processes. Moreover, the core symptoms of ASD involve distinctly human characteristics, presenting challenges to interpreting evolutionarily distant model systems. Indeed, despite a decade of striking progress in gene discovery, an actionable understanding of pathobiology remains elusive. Increasingly, convergent neuroscience approaches have been recognized as an important complement to traditional uses of genetics to illuminate the biology of human disorders. These methods seek to identify intersection among molecular-level, cellular-level and circuit-level functions across multiple risk genes and have highlighted developing excitatory neurons in the human mid-gestational prefrontal cortex as an important pathobiological nexus in ASD. In addition, neurogenesis, chromatin modification and synaptic function have emerged as key potential mediators of genetic vulnerability. The continued expansion of foundational 'omics' data sets, the application of higher-throughput model systems and incorporating developmental trajectories and sex differences into future analyses will refine and extend these results. Ultimately, a systems-level understanding of ASD genetic risk holds promise for clarifying pathobiology and advancing therapeutics.

Indexed as

Autism Spectrum DisorderNeurosciencesFemaleGenomicsHumansMaleNeurogenesisNeurons

Identifiers

PMID35440779
PMCPMC10693992

What OpenQuestion holds

Textmetadata
LicenceTDM
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.