Evidence map›Paper›PMID 30359605›Full record

ReviewNeuron2018

Lost in Translation: Traversing the Complex Path from Genomics to Therapeutics in Autism Spectrum Disorder.

Nenad Sestan, Matthew W State

Open access · bronzeAbstract readReview
In one paragraph

Review in Neuron, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 77 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
77citing papers in PubMed, 2 pooled it
8.4field-weighted citation impact, top 2% 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

77 citing papers in PubMed, 2 syntheses or guidelines pooled it, 137 citations in OpenAlex.

  1. Pooled it
  2. Pooled it
  3. Review
  4. Article
  5. Pharmaco-behavioral profiling identifies suppressors of autism gene-associated phenotypes in zebrafish.Proceedings of the National Academy of Sciences of the United States of America · 2026
    Article
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  13. Review
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  15. Review
  16. Article
  17. Convergence of autism proteins at the cilium.bioRxiv : the preprint server for biology · 2025
    Article
  18. Article
  19. Article
  20. Article

17 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

2 authors at 2 institutions in 1 country.

Nenad SestanDepartment of Neuroscience and Kavli Institute for Neuroscience, Yale School of Medicine, New Haven, CT 06510, USA; Departments of Genetics, of Psychiatry, and of Comparative Medicine, Program in Cellular Neuroscience, Neurodegeneration and Repair, and Yale Child Study Center, Yale School of Medicine, New Haven, CT 06510, USA. Electronic address: nenad.sestan@yale.edu.
Matthew W StateDepartment of Psychiatry, Langley Porter Psychiatric Institute, Quantitative Biosciences Institute, Institute for Human Genetics, and Weill Institute for Neurosciences, University of California, San Francisco, San Francisco, CA 94143, USA. Electronic address: matthew.state@ucsf.edu.
QB3 · USYale University · US

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
Functional Genomics of Human Brain DevelopmentP50MH106934 · NIMH · YALE UNIVERSITY · PI SESTAN, NENAD · 2014 to 2019
$7.9M
1/2 Cell Type and Region-Specific Regulatory Networks in Human Brain Development and DisordersU01MH116488 · NIMH · YALE UNIVERSITY · PI SESTAN, NENAD · 2018 to 2022
$6.5M
2/3-Identifying regulatory mutations that influence neuropsychiatric diseaseU01MH105575 · NIMH · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI STATE, MATTHEW W. · 2014 to 2018
$5.7M
2/2 Somatic mosaicism and autism spectrum disorderU01MH106874 · NIMH · YALE UNIVERSITY · PI SESTAN, NENAD · 2015 to 2019
$4.0M
1/3 Integrative Genomic Analysis of Human Brain Development and AutismR01MH110926 · NIMH · YALE UNIVERSITY · PI SESTAN, NENAD · 2016 to 2019
$3.2M
Integrating the genomics of Autism Spectrum Disorders(ASD) in consanguineous and "idiopathic" familiesR01MH102342 · NIMH · YALE UNIVERSITY · PI GUNEL, MURAT, STATE, MATTHEW W. · 2015 to 2018
$2.4M
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
4/4 - The Autism Sequencing Consortium: Autism Gene Discovery in >50,000 ExomesU01MH111662 · NIMH · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI SANDERS, STEPHAN, STATE, MATTHEW W. · 2017 to 2021
$1.3M
3/3 Integrative Genomic Analysis of Human Brain Development and AutismR01MH110928 · NIMH · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI SANDERS, STEPHAN, STATE, MATTHEW W. · 2016 to 2019
$1.3M
3/3 Multidimensional investigation of the etiology of autism spectrum disorderR01MH109904 · NIMH · YALE UNIVERSITY · PI SESTAN, NENAD · 2016 to 2018
$816k
1/3 Multidimensional investigation of the etiology of autism spectrum disorderR01MH109901 · NIMH · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI SANDERS, STEPHAN, STATE, MATTHEW W. · 2016 to 2018
$678k
NIMH NIH HHS P50 MH106934NIMH NIH HHS R01 MH102342NIMH NIH HHS R01 MH109901NIMH NIH HHS R01 MH109904NIMH NIH HHS R01 MH110926NIMH NIH HHS R01 MH110928NIMH NIH HHS U01 MH105575NIMH NIH HHS U01 MH106874NIMH NIH HHS U01 MH111662NIMH NIH HHS U01 MH115747NIMH NIH HHS U01 MH116487NIMH NIH HHS U01 MH116488
6 · The paper itself

Abstract

Recent progress in the genomics of non-syndromic autism spectrum disorder (nsASD) highlights rare, large-effect, germline, heterozygous de novo coding mutations. This distinguishes nsASD from later-onset psychiatric disorders where gene discovery efforts have predominantly yielded common alleles of small effect. These differences point to distinctive opportunities for clarifying the neurobiology of nsASD and developing novel treatments. We argue that the path ahead also presents key challenges, including distinguishing human pathophysiology from the potentially pleiotropic neurobiology mediated by established risk genes. We present our view of some of the conceptual limitations of traditional studies of model organisms, suggest a strategy focused on investigating the convergence of multiple nsASD genes, and propose that the detailed characterization of the molecular and cellular landscapes of developing human brain is essential to illuminate disease mechanisms. Finally, we address how recent advances are leading to novel strategies for therapeutics that target various points along the path from genes to behavior.

Indexed as

Autism Spectrum DisorderBrainGenetic TherapyGenomicsHumansMutationautism spectrum disorderconvergenceconvergence neurosciencede novo mutationgene therapygenomicshuman brain developmentneurodevelopmental disordersnon-syndromic autism spectrum disordertranscriptomics

Identifiers

PMID30359605
PMCPMC6989093
OpenAlexW2898312868

What OpenQuestion holds

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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.