Evidence map›Paper›PMID 31491383›Full record

ReviewCell2019

Getting to the Cores of Autism.

Lilia M Iakoucheva, Alysson R Muotri, Jonathan Sebat

Open access · bronzeAbstract readReview
In one paragraph

Review in Cell, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 157 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
157citing papers in PubMed, 2 pooled it
20.4field-weighted citation impact, top 1% 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

157 citing papers in PubMed, 2 syntheses or guidelines pooled it, 272 citations in OpenAlex.

  1. Pooled it
  2. Pooled it
  3. Article
  4. Article
  5. Article
  6. Review
  7. A Developmental Neuroimmune Cascade Model of Autism Spectrum Disorder.International journal of molecular sciences · 2026
    Review
  8. Review
  9. Article
  10. Article
  11. Article
  12. Article
  13. Article
  14. Article
  15. Article
  16. Article
  17. Large-scale discovery of neural enhancers for cis-regulation therapies.bioRxiv : the preprint server for biology · 2025
    Article
  18. Transcriptomic Convergence and the Female Protective Effect in Autism.bioRxiv : the preprint server for biology · 2025
    Article
  19. Article
  20. Article

97 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

3 authors at 2 institutions in 1 country.

Lilia M IakouchevaUniversity of California San Diego, Department of Psychiatry, La Jolla, CA 92093, USA.
Alysson R MuotriUniversity of California San Diego, School of Medicine, Department of Cellular & Molecular Medicine, La Jolla, CA 92093, USA; University of California San Diego, School of Medicine, Department of Pediatrics/Rady Children's Hospital San Diego, La Jolla, CA 92093, USA; University of California San Diego, Kavli Institute for Brain and Mind, La Jolla, CA 92093, USA; Center for Academic Research and Training in Anthropogeny (CARTA), La Jolla, CA 92093, USA.
Jonathan SebatUniversity of California San Diego, Department of Psychiatry, La Jolla, CA 92093, USA; University of California San Diego, School of Medicine, Department of Cellular & Molecular Medicine, La Jolla, CA 92093, USA; University of California San Diego, Beyster Center for Psychiatric Genomics, La Jolla, CA 92093. Electronic address: jsebat@ucsd.edu.
University of California, San Diego · USRady Children's Hospital-San Diego · US

Funding

Expanding the accessible genetic architecture of autism by single molecule sequencingR01MH113715 · NIMH · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI SEBAT, JONATHAN · 2017 to 2021
$4.1M
Integrative functional genomic study of pathways impacted by recurrent autism CNVR01MH108528 · NIMH · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI IAKOUCHEVA, LILIA M, MUOTRI, ALYSSON R. · 2016 to 2020
$2.6M
Evaluating the effect of splicing mutations on isoform networks in autismR01MH109885 · NIMH · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI IAKOUCHEVA, LILIA M, MUOTRI, ALYSSON R. · 2016 to 2020
$2.5M
4/7 Psychiatric Genomics Consortium: Finding actionable variationU01MH109501 · NIMH · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI SEBAT, JONATHAN · 2016 to 2020
$2.0M
4/9: Dissecting the effects of genomic variants on neurobehavioral dimensions in CNVs enriched for neuropsychiatric disordersU01MH119746 · NIMH · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI SEBAT, JONATHAN · 2019 to 2023
$1.4M
A computational framework for predicting the impact of mutations in autismR01MH105524 · NIMH · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI IAKOUCHEVA, LILIA M, RADIVOJAC, PREDRAG · 2014 to 2016
$1.4M
A systems biology approach to unravel theunderlying functional modules of ASDR01HD065288 · NICHD · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI IAKOUCHEVA, LILIA M · 2009 to 2010
$1.3M
Personalized treatment of cognitive deficits associated with deletion of CACNG2R21MH113179 · NIMH · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI SEBAT, JONATHAN · 2017 to 2018
$426k
Protein network of high risk copy number variants for psychiatric disordersR21MH104766 · NIMH · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI IAKOUCHEVA, LILIA M · 2014 to 2015
$421k
NICHD NIH HHS R01 HD065288NIMH NIH HHS R01 MH105524NIMH NIH HHS R01 MH108528NIMH NIH HHS R01 MH109885NIMH NIH HHS R01 MH113715NIMH NIH HHS R21 MH104766NIMH NIH HHS R21 MH113179NIMH NIH HHS U01 MH109501NIMH NIH HHS U01 MH119746
6 · The paper itself

Abstract

The genetic architecture of autism spectrum disorder (ASD) is itself a diverse allelic spectrum that consists of rare de novo or inherited variants in hundreds of genes and common polygenic risk at thousands of loci. ASD susceptibility genes are interconnected at the level of transcriptional and protein networks, and many function as genetic regulators of neurodevelopment or synaptic proteins that regulate neural activity. So that the core underlying neuropathologies can be further elucidated, we emphasize the importance of first defining subtypes of ASD on the basis of the phenotypic signatures of genes in model systems and humans.

Indexed as

AnimalsAutism Spectrum DisorderCells, CulturedDisease Models, AnimalDNA Copy Number VariationsGene Regulatory NetworksGenetic Predisposition to DiseaseHumansMultifactorial InheritanceNeurogenesis

Identifiers

PMID31491383
PMCPMC7039308
OpenAlexW2971462245

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.