Evidence map›Paper›PMID 30901538›Full record

ReviewCell2019

Defining the Genetic, Genomic, Cellular, and Diagnostic Architectures of Psychiatric Disorders.

Patrick F Sullivan, Daniel H Geschwind

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 250 papers, 5 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
250citing papers in PubMed, 5 pooled it
46.6field-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

250 citing papers in PubMed, 5 syntheses or guidelines pooled it, 468 citations in OpenAlex.

  1. Pooled it
  2. Pooled it
  3. A Systematic Review on the Genetic Contribution to Tinnitus.Journal of the Association for Research in Otolaryngology : JARO · 2024
    Pooled it
  4. Pooled it
  5. Pooled it
  6. Article
  7. Testing for Genetic Interactions in Complex Disease With Distance Correlation.Biometrical journal. Biometrische Zeitschrift · 2026
    Article
  8. Review
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  15. Article
  16. Review
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  18. The topology of adolescent mental health.medRxiv : the preprint server for health sciences · 2026
    Article
  19. Article
  20. Article

190 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 2 countries.

Patrick F SullivanDepartment of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden; Departments of Genetics and Psychiatry, University of North Carolina, Chapel Hill, NC, USA. Electronic address: patrick.sullivan@ki.se.
Daniel H GeschwindDepartments of Neurology, Psychiatry, and Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, CA, USA; Institute for Precision Health, David Geffen School of Medicine, University of California, Los Angeles, CA, USA. Electronic address: dhg@mednet.ucla.edu.
University of California, Los Angeles · USUniversity of North Carolina at Chapel Hill · US

Funding

Multimodal Developmental Neurogenetics of Females with ASDR01MH100028 · NIMH · YALE UNIVERSITY · PI Allison Elizabeth Jack, LAUREN KENWORTHY · 2012 to 2026
$37.8M
Understanding Repetitive Behavior in AutismP50HD055784 · NICHD · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI BOOKHEIMER, SUSAN Y · 2007 to 2021
$32.0M
Autism Genetics, Phase II: Increasing Representation of Human DiversityR01MH100027 · NIMH · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI GESCHWIND, DANIEL H · 2013 to 2024
$31.7M
UC Davis Conte Center: Neuroimmune Mechanisms of Psychiatric DisordersP50MH106438 · NIMH · UNIVERSITY OF CALIFORNIA AT DAVIS · PI CARTER, CAMERON S. · 2015 to 2025
$26.1M
A Comprehensive Approach to Identification of Autism Susceptibility GenesR01MH081754 · NIMH · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI GESCHWIND, DANIEL H · 2008 to 2012
$14.6M
A Large-Scale Schizophrenia Association Study in SwedenR01MH077139 · NIMH · UNIV OF NORTH CAROLINA CHAPEL HILL · PI SULLIVAN, PATRICK F · 2007 to 2018
$9.9M
1/2 Cross modal integration of molecular and physiological networks in ASDU01MH115746 · NIMH · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI GESCHWIND, DANIEL H, MEHTA, MAYANK R · 2017 to 2021
$5.3M
Integrative Molecular and Phenotype Analysis of 22q11.2 Deletion SyndromeR01MH100900 · NIMH · STANFORD UNIVERSITY · PI HALLMAYER, JOACHIM F · 2013 to 2017
$4.8M
7/7 Psychiatric Genomics Consortium: Finding actionable variationU01MH109532 · NIMH · WASHINGTON UNIVERSITY · PI AGRAWAL, ARPANA, EDENBERG, HOWARD J · 2016 to 2020
$3.1M
Rapid Phenotyping for Rare Variant Discovery in AutismR01NS073871 · NINDS · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI NELSON, STANLEY F. · 2011 to 2015
$3.1M
Epigenetic and Transcriptional Dysregulation in Autism Spectrum DisorderR01MH094714 · NIMH · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI GESCHWIND, DANIEL H · 2011 to 2015
$2.8M
2/3 Integrative Genomic Analysis of Human Brain Development and AutismR01MH110927 · NIMH · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI GESCHWIND, DANIEL H · 2016 to 2019
$2.7M
NICHD NIH HHS P50 HD055784NICHD NIH HHS R01 HD065280NIMH NIH HHS P50 MH106438NIMH NIH HHS R01 MH077139NIMH NIH HHS R01 MH081754NIMH NIH HHS R01 MH094714NIMH NIH HHS R01 MH100027NIMH NIH HHS R01 MH100028NIMH NIH HHS R01 MH100900NIMH NIH HHS R01 MH109912NIMH NIH HHS R01 MH110927NIMH NIH HHS R33 MH087898NIMH NIH HHS U01 MH105991NIMH NIH HHS U01 MH109528NIMH NIH HHS U01 MH109532NIMH NIH HHS U01 MH109536NIMH NIH HHS U01 MH115746NINDS NIH HHS R01 NS073871
6 · The paper itself

Abstract

Studies of the genetics of psychiatric disorders have become one of the most exciting and fast-moving areas in human genetics. A decade ago, there were few reproducible findings, and now there are hundreds. In this review, we focus on the findings that have illuminated the genetic architecture of psychiatric disorders and the challenges of using these findings to inform our understanding of pathophysiology. The evidence is now overwhelming that psychiatric disorders are "polygenic"-that many genetic loci contribute to risk. With the exception of a subset of those with ASD, few individuals with a psychiatric disorder have a single, deterministic genetic cause; rather, developing a psychiatric disorder is influenced by hundreds of different genetic variants, consistent with a polygenic model. As progressively larger studies have uncovered more about their genetic architecture, the need to elucidate additional architectures has become clear. Even if we were to have complete knowledge of the genetic architecture of a psychiatric disorder, full understanding requires deep knowledge of the functional genomic architecture-the implicated loci impact regulatory processes that influence gene expression and the functional coordination of genes that control biological processes. Following from this is cellular architecture: of all brain regions, cell types, and developmental stages, where and when are the functional architectures operative? Given that the genetic architectures of different psychiatric disorders often strongly overlap, we are challenged to re-evaluate and refine the diagnostic architectures of psychiatric disorders using fundamental genetic and neurobiological data.

Indexed as

AllelesGene FrequencyGenetic Predisposition to DiseaseGenetic VariationGenome-Wide Association StudyGenomicsHumansMental DisordersMental HealthMultifactorial Inheritance

Identifiers

PMID30901538
PMCPMC6432948
OpenAlexW2923203084

What OpenQuestion holds

Textmetadata
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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.