ArticleNature genetics2014
Most genetic risk for autism resides with common variation.
Registry-linked trialAbstract read
In one paragraph
Article in Nature genetics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT06662591 (A Multi-Center Multi-Omics Approach for Investigating Genetic and Epigenetic Mechanisms in Autism Spectrum Disorder), which is not on this map. Cited by 671 papers, 4 of them syntheses that pooled it.
0numbers the graph read from it
0cells of the map it votes in
671citing papers in PubMed, 4 pooled it
–field-weighted citation impact
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.
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.
A Multi-Center Multi-Omics Approach for Investigating Genetic and Epigenetic Mechanisms in Autism Spectrum Disorder
Who cites it
671 citing papers in PubMed, 4 syntheses or guidelines pooled it.
- Presymptomatic Biological, Structural, and Functional Diagnostic Biomarkers of Autism Spectrum Disorder.Journal of neurochemistry · 2025Pooled it
- Maternal exposure to pesticides and autism or attention-deficit/hyperactivity disorders in offspring: A meta-analysis.Chemosphere · 2023Pooled it
- In Search of Biomarkers to Guide Interventions in Autism Spectrum Disorder: A Systematic Review.The American journal of psychiatry · 2023Pooled it
- Auditory processing in rodent models of autism: a systematic review.Journal of neurodevelopmental disorders · 2022Pooled it
- Neurocognitive Profiles in Parents of Autistic Children and Parents of Children with Anorexia Nervosa.Journal of autism and developmental disorders · 2026Article
- Autism: epidemiology, genetics, molecular mechanisms, clinical features, diagnosis, and management.Molecular biomedicine · 2026Review
- Genetic Testing Abnormalities in Children with Autism Spectrum Disorder: Prevalence, Patterns, and Clinical Associations.Neurology international · 2026Article
- Firemaster 550 differentially alters gene expression underlying synaptic function in amygdala of prairie voles after gestational or lactational exposure.Neurotoxicology · 2026Article
- Genetic overlap and shared risk loci between autism spectrum disorder and cardiometabolic traits.Molecular psychiatry · 2026Article
- Investigation of WNT2, DISC1, and DOCK4 polymorphisms in a Turkish autism spectrum disorder cohort: a case-control and bioinformatics analysis.Molecular biology reports · 2026Article
- Contribution of Copy Number Variants and Cumulative Genetic Load to Autism Spectrum Disorders: Integrative Insights from Chromosomal Microarray Analysis.International journal of molecular sciences · 2026Article
- 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 · 2026Article
- Challenging the Developmental Substructure Model for Autism: A Perspective From Causal Statistics.Autism research : official journal of the International Society for Autism Research · 2026Article
- Rationale and Methods for the Prospective Genetic Risk Evaluation and Assessment (PROGRESS) in Autism Center at Columbia University.Pediatric research · 2026Article
- Genomic landscape of rare variants in a Chinese autism cohort and discovery of novel risk genes.Molecular psychiatry · 2026Article
- Myelin dysfunction in autism spectrum disorder: insights into core symptoms and mechanisms of brain development.Molecular psychiatry · 2026Review
- Exploring the significance of fatty acid-binding protein 4 levels as a biomarker for autism spectrum disorder: a cross-sectional study.BMC psychiatry · 2026Article
- Quantifying Evidence for Competing Biomedical Hypotheses using Large Language Models and Bayesian Analysis.bioRxiv : the preprint server for biology · 2026Article
- Integrating Ultimate and Proximate Explanations of Neurodivergence: Evolutionary Trade-Offs, Compensation, and Clinical Expression.Evolutionary applications · 2026Article
- Identification of moderate effect size genes in autism spectrum disorder through a novel gene pairing approach.Communications biology · 2026Article
611 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
19 authors.
Trent GauglerDepartment of Statistics, Carnegie Mellon University, Pittsburgh, Pennsylvania, USA.
Lambertus KleiDepartment of Psychiatry, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania, USA.
Stephan J Sanders1] Department of Psychiatry, University of California, San Francisco, San Francisco, California, USA. [2] Department of Genetics, Yale University School of Medicine, New Haven, Connecticut, USA.
Corneliu A BodeaDepartment of Statistics, Carnegie Mellon University, Pittsburgh, Pennsylvania, USA.
Arthur P Goldberg1] Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York, New York, USA. [2] Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, New York, USA. [3] Icahn Institute for Genomics and Multiscale Biology, Icahn School of Medicine at Mount Sinai, New York, New York, USA.
Ann B LeeDepartment of Statistics, Carnegie Mellon University, Pittsburgh, Pennsylvania, USA.
Milind MahajanDepartment of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York, USA.
Dina ManaaDepartment of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York, USA.
Yudi PawitanDepartment of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden.
Jennifer Reichert1] Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York, New York, USA. [2] Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, New York, USA.
Stephan RipkeCenter for Human Genetic Research, Massachusetts General Hospital, Boston, Massachusetts, USA.
Sven SandinDepartment of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden.ORCID 0000000169944884
Pamela Sklar1] Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, New York, USA. [2] Icahn Institute for Genomics and Multiscale Biology, Icahn School of Medicine at Mount Sinai, New York, New York, USA. [3] Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York, USA. [4] Friedman Brain Institute, Icahn School of Medicine at Mount Sinai, New York, New York, USA. [5] Division of Psychiatric Genomics, Icahn School of Medicine at Mount Sinai, New York, New York, USA.
Oscar SvantessonDepartment of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden.
Abraham Reichenberg1] Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York, New York, USA. [2] Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, New York, USA. [3] Department of Preventive Medicine, Icahn School of Medicine at Mount Sinai, New York, New York, USA.
Christina M HultmanDepartment of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden.
Bernie DevlinDepartment of Psychiatry, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania, USA.
Kathryn Roeder1] Department of Statistics, Carnegie Mellon University, Pittsburgh, Pennsylvania, USA. [2] Ray and Stephanie Lane Center for Computational Biology, Carnegie Mellon University, Pittsburgh, Pennsylvania, USA.
Joseph D Buxbaum1] Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York, New York, USA. [2] Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, New York, USA. [3] Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York, USA. [4] Friedman Brain Institute, Icahn School of Medicine at Mount Sinai, New York, New York, USA. [5] Department of Neuroscience, Icahn School of Medicine at Mount Sinai, New York, New York, USA. [6] The Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, New York, USA.
Funding
Understanding Repetitive Behavior in AutismP50HD055784 · NICHD · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI BOOKHEIMER, SUSAN Y · 2007 to 2021
$32.0MA Comprehensive Approach to Identification of Autism Susceptibility GenesR01MH081754 · NIMH · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI GESCHWIND, DANIEL H · 2008 to 2012
$14.6MUSE OF DNA PROBE FOR CHOLINERGIC AND NON-CHOLINERGIC MG ANTIGENP01NS026630 · NINDS · UNIVERSITY OF MIAMI SCHOOL OF MEDICINE · PI PERICAK-VANCE, MARGARET A. · 1989 to 2009
$12.6MUW Autism Center of ExcellenceP50HD055782 · NICHD · UNIVERSITY OF WASHINGTON · PI ABBOTT, ROBERT D · 2007 to 2011
$11.0MA Large-Scale Schizophrenia Association Study in SwedenR01MH077139 · NIMH · UNIV OF NORTH CAROLINA CHAPEL HILL · PI SULLIVAN, PATRICK F · 2007 to 2018
$9.9MTRANS STUDIES OF COGNITIVE,AFFECTIVE/NEUROCHEMICAL PROCESSES UNDERLYING INSISTENCP50HD055751 · NICHD · UNIVERSITY OF ILLINOIS AT CHICAGO · PI COOK, EDWIN H · 2007 to 2011
$9.5MMANAGEMENT/STATISTICS COREU54MH066673 · NIMH · MOUNT SINAI SCHOOL OF MEDICINE OF NYU · PI BUXBAUM, JOSEPH D. · 2003 to 2007
$7.7MMolecular and Genetic Epidemiology of AutismR01MH080647 · NIMH · UNIVERSITY OF MIAMI SCHOOL OF MEDICINE · PI PERICAK-VANCE, MARGARET A. · 2007 to 2011
$5.9MGenetics Association in Schizophrenia and Other DisordersR37MH057881 · NIMH · UNIVERSITY OF PITTSBURGH AT PITTSBURGH · PI DEVLIN, BERNIE · 2013 to 2022
$5.4MPopulation-Based Autism Genetics & Environment StudyR01MH097849 · NIMH · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI BUXBAUM, JOSEPH D. · 2014 to 2022
$5.2MGENETIC ASSOCIATION IN SCHIZOPHRENIA AND OTHER DISORDERSR01MH057881 · NIMH · UNIVERSITY OF PITTSBURGH AT PITTSBURGH · PI DEVLIN, BERNIE · 1998 to 2012
$4.8MINFRASTRUCTURE TO FACILITATE DISCOVERY OF AUTISM GENESR01NS042165 · NINDS · TUFTS MEDICAL CENTER · PI HALLMAYER, JOACHIM F · 2002 to 2006
$4.2MCIHRNICHD NIH HHS HD055751NICHD NIH HHS HD055782NICHD NIH HHS HD055784NICHD NIH HHS HD35465NIMH NIH HHS MH057881NIMH NIH HHS MH061009NIMH NIH HHS MH06359NIMH NIH HHS MH066673NIMH NIH HHS MH077139NIMH NIH HHS MH080647NIMH NIH HHS MH081754NIMH NIH HHS MH095034NIMH NIH HHS MH097849NIMH NIH HHS MH52708NIMH NIH HHS MH55284NIMH NIH HHS MH57881NIMH NIH HHS MH66766NIMH NIH HHS R01 MH057881NIMH NIH HHS R01 MH077139NIMH NIH HHS R01 MH095034NIMH NIH HHS R01 MH097849NIMH NIH HHS R37 MH057881NIMH NIH HHS R56 MH097849NINDS NIH HHS NS026630NINDS NIH HHS NS042165NINDS NIH HHS NS049261
Abstract
A key component of genetic architecture is the allelic spectrum influencing trait variability. For autism spectrum disorder (herein termed autism), the nature of the allelic spectrum is uncertain. Individual risk-associated genes have been identified from rare variation, especially de novo mutations. From this evidence, one might conclude that rare variation dominates the allelic spectrum in autism, yet recent studies show that common variation, individually of small effect, has substantial impact en masse. At issue is how much of an impact relative to rare variation this common variation has. Using a unique epidemiological sample from Sweden, new methods that distinguish total narrow-sense heritability from that due to common variation and synthesis of results from other studies, we reach several conclusions about autism's genetic architecture: its narrow-sense heritability is ∼52.4%, with most due to common variation, and rare de novo mutations contribute substantially to individual liability, yet their contribution to variance in liability, 2.6%, is modest compared to that for heritable variation.
Indexed as
MutationAdolescentAdultAgedAllelesAutistic DisorderChildGenetic Predisposition to DiseaseHumansMiddle AgedPolymorphism, Single NucleotideRisk FactorsSwedenYoung Adult
Identifiers
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Registered trials
NCT06662591ClinicalTrials.gov
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.