SynthesisNature genetics2022
Rare coding variation provides insight into the genetic architecture and phenotypic context of autism.
Open access · greenAbstract readMeta-Analysis
In one paragraph
Synthesis in Nature genetics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 440 papers, 1 of them a synthesis that pooled it.
0numbers the graph read from it
0cells of the map it votes in
440citing papers in PubMed, 1 pooled it
69.9field-weighted citation impact, top 1% of its field
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
440 citing papers in PubMed, 1 synthesis or guideline pooled it, 580 citations in OpenAlex.
- Systematic Review: Convergence and Divergence Between Autism Spectrum Disorder and Obsessive-Compulsive Disorder: Genetic, Neuroimaging, and Cognitive Findings.Journal of the American Academy of Child and Adolescent Psychiatry · 2026Pooled it
- Testing the Transferability of Perturbational Similarity Maps Across Species, Cell Systems, and Assay Modalities.Neuroinformatics · 2026Article
- Acetaminophen produces limited molecular and functional effects in human cortical organoids.Molecular psychiatry · 2026Article
- Monoallelic loss-of-function variants in ZNF536 are associated with a neurodevelopmental disorder with prominent behavioral features.American journal of human genetics · 2026Article
- Genetic architecture of postpartum psychosis: from common to rare genetic variation.Molecular psychiatry · 2026Article
- Mosaicism for Cohen-Gibson Syndrome in a Female Individual With Overgrowth and Neurodevelopmental Delay.Molecular genetics & genomic medicine · 2026Article
- Article
- A Critical Synthesis of Machine Learning in Autism Spectrum Disorder Genomic Research: From Transcriptomics to Microbiome.Medeniyet medical journal · 2026Article
- Persistent tic disorders are associated with 17q12 duplications.Molecular psychiatry · 2026Article
- Article
- Genetic Testing Abnormalities in Children with Autism Spectrum Disorder: Prevalence, Patterns, and Clinical Associations.Neurology international · 2026Article
- Systematic CRISPRi perturbation of 1,408 autism risk genes maps multilevel transcriptional convergence in human cortical neurons.bioRxiv : the preprint server for biology · 2026Article
- Complementary vertebrateeLife · 2026Article
- Morphogen-guided neocortical organoids with anteroposterior areal identity.Cell stem cell · 2026Article
- TALE and Hox Transcription Factors Modulate Adult Behaviors in Zebrafish.Behavior genetics · 2026Article
- USP15 mutation associated with autism spectrum disorder alters progenitor fate and neuronal maturation in human brain organoids.Molecules and cells · 2026Article
- Clinical Utility of Trio Exome Sequencing in Rwandan Children With Autism Spectrum Disorder.Molecular genetics & genomic medicine · 2026Article
- Steroidopathies and hormonal imbalance in children and adolescents with autism spectrum disorder.JCPP advances · 2026Article
- Full-length single-cell spatial transcriptomics reveals spatial and cell-type-specific transcript isoforms in the primate brain.Nature methods · 2026Article
- Article
380 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
75 authors at 20 institutions in 17 countries.
Jack M Fu *Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.
F Kyle Satterstrom *Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.ORCID http://orcid.org/0000-0001-6187-7680
Minshi Peng *Department of Statistics and Data Science, Carnegie Mellon University, Pittsburgh, PA, USA.
Harrison Brand *Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.
Ryan L CollinsCenter for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.
Shan DongDepartment of Psychiatry, UCSF Weill Institute for Neurosciences, University of California San Francisco, San Francisco, CA, USA.
Brie WamsleyProgram in Neurogenetics, Department of Neurology, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, CA, USA.
Lambertus KleiDepartment of Psychiatry, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA.
Lily WangProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Stephanie P HaoCenter for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.ORCID http://orcid.org/0000-0002-3760-8234
Christine R StevensProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.ORCID http://orcid.org/0000-0002-2621-2234
Caroline CusickStanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Mehrtash BabadiData Sciences Platform, The Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Eric BanksData Sciences Platform, The Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Brett CollinsSeaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Sheila DodgeGenomics Platform, The Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Stacey B GabrielGenomics Platform, The Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Laura GauthierData Sciences Platform, The Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Samuel K LeeData Sciences Platform, The Broad Institute of MIT and Harvard, Cambridge, MA, USA.ORCID http://orcid.org/0000-0001-6733-0547
Lindsay LiangDepartment of Psychiatry, UCSF Weill Institute for Neurosciences, University of California San Francisco, San Francisco, CA, USA.ORCID http://orcid.org/0000-0002-9393-2645
Alicia LjungdahlDepartment of Psychiatry, UCSF Weill Institute for Neurosciences, University of California San Francisco, San Francisco, CA, USA.
Behrang MahjaniSeaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Laura SloofmanSeaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Andrey N SmirnovData Sciences Platform, The Broad Institute of MIT and Harvard, Cambridge, MA, USA.ORCID http://orcid.org/0000-0002-4450-0408
Mafalda BarbosaThe Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Catalina BetancurSorbonne Université, INSERM, CNRS, Neuroscience Paris Seine, Institut de Biologie Paris Seine, Paris, France.ORCID http://orcid.org/0000-0002-3327-4804
Alfredo BruscoDepartment of Medical Sciences, University of Torino, Turin, Italy.ORCID http://orcid.org/0000-0002-8318-7231
Brian H Y ChungDepartment of Pediatrics and Adolescent Medicine, Duchess of Kent Children's Hospital, The University of Hong Kong, Hong Kong Special Administrative Region, China.ORCID http://orcid.org/0000-0002-7044-5916
Edwin H CookInstitute for Juvenile Research, Department of Psychiatry, University of Illinois at Chicago, Chicago, IL, USA.ORCID http://orcid.org/0000-0002-5848-5114
Michael L CuccaroThe John P Hussman Institute for Human Genomics, The University of Miami Miller School of Medicine, Miami, FL, USA.
Enrico DomeniciDepartment of Cellular, Computational and Integrative Biology, , University of Trento, Trento, Italy.ORCID http://orcid.org/0000-0001-7436-6919
Giovanni Battista FerreroDepartment of Public Health and Pediatrics, University of Torino, Turin, Italy.
J Jay GargusCenter for Autism Research and Translation, University of California Irvine, Irvine, CA, USA.
Gail E HermanThe Research Institute at Nationwide Children's Hospital, Columbus, OH, USA.
Irva Hertz-PicciottoMIND (Medical Investigation of Neurodevelopmental Disorders) Institute, University of California Davis, Davis, CA, USA.
Patricia MacielLife and Health Sciences Research Institute, School of Medicine, University of Minho, Braga, Portugal.ORCID http://orcid.org/0000-0002-0920-6350
Dara S ManoachDepartment of Psychiatry, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.ORCID http://orcid.org/0000-0001-9208-1167
Maria Rita Passos-BuenoCentro de Pesquisas sobre o Genoma Humano e Células tronco, Instituto de Biociências, Universidade de São Paulo, São Paulo, Brazil.
Antonio M PersicoInterdepartmental Program 'Autism 0-90', 'Gaetano Martino' University Hospital, University of Messina, Messina, Italy.
Alessandra RenieriMed Biotech Hub and Competence Center, Department of Medical Biotechnologies, University of Siena, Siena, Italy.
James S SutcliffeDepartment of Molecular Physiology & Biophysics and Psychiatry, Vanderbilt University School of Medicine, Nashville, TN, USA.ORCID http://orcid.org/0000-0001-5200-6007
Flora TassoneMIND (Medical Investigation of Neurodevelopmental Disorders) Institute, University of California Davis, Davis, CA, USA.
Elisabetta TrabettiDepartment of Neurosciences, Biomedicine and Movement Sciences, Section of Biology and Genetics, University of Verona, Verona, Italy.
Gabriele CamposCentro de Pesquisas sobre o Genoma Humano e Células tronco, Instituto de Biociências, Universidade de São Paulo, São Paulo, Brazil.ORCID http://orcid.org/0000-0002-0470-3382
Simona CardaropoliDepartment of Public Health and Pediatrics, University of Torino, Turin, Italy.ORCID http://orcid.org/0000-0002-8927-8900
Diana CarliDepartment of Public Health and Pediatrics, University of Torino, Turin, Italy.ORCID http://orcid.org/0000-0001-5690-6504
Marcus C Y ChanDepartment of Pediatrics and Adolescent Medicine, Duchess of Kent Children's Hospital, The University of Hong Kong, Hong Kong Special Administrative Region, China.
Chiara FalleriniMed Biotech Hub and Competence Center, Department of Medical Biotechnologies, University of Siena, Siena, Italy.
Elisa GiorgioDepartment of Medical Sciences, University of Torino, Turin, Italy.
Ana Cristina GirardiCentro de Pesquisas sobre o Genoma Humano e Células tronco, Instituto de Biociências, Universidade de São Paulo, São Paulo, Brazil.ORCID http://orcid.org/0000-0001-6531-501X
Emily Hansen-KissDepartment of Diagnostic and Biomedical Sciences, University of Texas Health Science Center at Houston, School of Dentistry, Houston, TX, USA.
So Lun LeeDepartment of Pediatrics and Adolescent Medicine, Duchess of Kent Children's Hospital, The University of Hong Kong, Hong Kong Special Administrative Region, China.
Carla LintasService for Neurodevelopmental Disorders, University Campus Bio-medico of Rome, Rome, Italy.
Yunin LudenaMIND (Medical Investigation of Neurodevelopmental Disorders) Institute, University of California Davis, Davis, CA, USA.
Rachel NguyenCenter for Autism Research and Translation, University of California Irvine, Irvine, CA, USA.
Lisa PavinatoDepartment of Medical Sciences, University of Torino, Turin, Italy.ORCID http://orcid.org/0000-0002-7630-8365
Margaret Pericak-VanceThe John P Hussman Institute for Human Genomics, The University of Miami Miller School of Medicine, Miami, FL, USA.ORCID http://orcid.org/0000-0001-7283-8804
Isaac N PessahMIND (Medical Investigation of Neurodevelopmental Disorders) Institute, University of California Davis, Davis, CA, USA.
Rebecca J SchmidtMIND (Medical Investigation of Neurodevelopmental Disorders) Institute, University of California Davis, Davis, CA, USA.ORCID http://orcid.org/0000-0003-1582-2747
Moyra SmithCenter for Autism Research and Translation, University of California Irvine, Irvine, CA, USA.
Claudia I S CostaCentro de Pesquisas sobre o Genoma Humano e Células tronco, Instituto de Biociências, Universidade de São Paulo, São Paulo, Brazil.
Slavica TrajkovaDepartment of Medical Sciences, University of Torino, Turin, Italy.
Jaqueline Y T WangCentro de Pesquisas sobre o Genoma Humano e Células tronco, Instituto de Biociências, Universidade de São Paulo, São Paulo, Brazil.
Mullin H C YuDepartment of Pediatrics and Adolescent Medicine, Duchess of Kent Children's Hospital, The University of Hong Kong, Hong Kong Special Administrative Region, China.
Autism Sequencing Consortium (ASC)
Broad Institute Center for Common Disease Genomics (Broad-CCDG)
iPSYCH-BROAD Consortium
David J CutlerDepartment of Human Genetics, Emory University School of Medicine, Atlanta, GA, USA.
Silvia De RubeisSeaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York, NY, USA.ORCID http://orcid.org/0000-0001-9383-6883
Joseph D BuxbaumSeaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York, NY, USA. joseph.buxbaum@mssm.edu.ORCID http://orcid.org/0000-0001-8898-8313
Mark J DalyCenter for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA. mjdaly@atgu.mgh.harvard.edu.ORCID http://orcid.org/0000-0002-0949-8752
Bernie DevlinDepartment of Psychiatry, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA. devlinbj@upmc.edu.ORCID http://orcid.org/0000-0003-2524-4290
Kathryn RoederDepartment of Statistics and Data Science, Carnegie Mellon University, Pittsburgh, PA, USA. roeder@andrew.cmu.edu.ORCID http://orcid.org/0000-0002-8869-6254
Stephan J SandersDepartment of Psychiatry, UCSF Weill Institute for Neurosciences, University of California San Francisco, San Francisco, CA, USA. Stephan.Sanders@ucsf.edu.ORCID http://orcid.org/0000-0001-9112-5148
Michael E TalkowskiCenter for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA. MTALKOWSKI@mgh.harvard.edu.ORCID http://orcid.org/0000-0003-2889-0992
Broad Institute · USNagoya University · JPUniversity of Turin · ITChild Health and Development Institute · USUniversidade de São Paulo · BRUniversity of California, Davis · USUniversity of California, San Francisco · USUniversity of Illinois Chicago · USUniversity of Siena · ITDuchess of Kent Children's Hospital · CNKarolinska Institutet · SELundbeck Foundation · DKUniversity of California, Irvine · USUniversity of Pittsburgh · USAllen Institute for Brain Science · USBen-Gurion University of the Negev · ILCarnegie Mellon University · USGoethe University Frankfurt · DEHarvard University · USHospital for Sick Children · CA
Funding
Center for Common Disease GeneticsUM1HG008895 · NHGRI · BROAD INSTITUTE, INC. · PI DALY, MARK JOSEPH, GABRIEL, STACEY · 2016 to 2020
$111.2MAutism Genetics, Phase II: Increasing Representation of Human DiversityR01MH100027 · NIMH · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI GESCHWIND, DANIEL H · 2013 to 2024
$31.7MUC Davis Environmental Health Sciences Core CenterP30ES023513 · NIEHS · UNIVERSITY OF CALIFORNIA AT DAVIS · PI Ameer Taha · 2015 to 2026
$26.0MTraining Program in Bioinformatics and Integrative GenomicsT32HG002295 · NHGRI · MASSACHUSETTS INSTITUTE OF TECHNOLOGY · PI Peter J Park · 2001 to 2026
$15.8MOverall: Eunice Kennedy Shriver Intellectual and Developmental Disabilities Research Center at VanderbiltP50HD103537 · NICHD · VANDERBILT UNIVERSITY MEDICAL CENTER · PI Jeffrey L Neul · 2020 to 2026
$10.3MClinical Diagnostic Sequencing of Structural VariationR01HD081256 · NICHD · MASSACHUSETTS GENERAL HOSPITAL · PI TALKOWSKI, MICHAEL E · 2015 to 2025
$7.2MScalable tool and comprehensive maps to interpret structural variation across the neuropsychiatric spectrumR01MH115957 · NIMH · BROAD INSTITUTE, INC. · PI TALKOWSKI, MICHAEL E · 2019 to 2025
$5.4MGenetics 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
$5.2MHIGHLY PARALLEL ANALYSIS OF 5' AND 3' UTR VARIANTS IN NEURODEVELOPMENTAL DISORDERSR01MH116999 · NIMH · WASHINGTON UNIVERSITY · PI JOSEPH D DOUGHERTY · 2018 to 2026
$5.1MGENETIC ASSOCIATION IN SCHIZOPHRENIA AND OTHER DISORDERSR01MH057881 · NIMH · UNIVERSITY OF PITTSBURGH AT PITTSBURGH · PI DEVLIN, BERNIE · 1998 to 2012
$4.8MFunctional convergence following disruption of diverse genes associated with neurodevelopmental disordersR01MH123155 · NIMH · YALE UNIVERSITY · PI BRENNAND, KRISTEN JENNIFER, RUDERFER, DOUGLAS · 2021 to 2025
$4.1MNHGRI NIH HHS T32 HG002295NHGRI NIH HHS UM1 HG008895NICHD NIH HHS P50 HD103537NICHD NIH HHS R01 HD081256NICHD NIH HHS R01 HD096326NIEHS NIH HHS P30 ES023513NIEHS NIH HHS R24 ES028533NIEHS NIH HHS U24 ES028533NIMH NIH HHS R01 MH057881NIMH NIH HHS R01 MH069359NIMH NIH HHS R01 MH094400NIMH NIH HHS R01 MH097849NIMH NIH HHS R01 MH099134NIMH NIH HHS R01 MH100027NIMH NIH HHS R01 MH109900NIMH NIH HHS R01 MH115957NIMH NIH HHS R01 MH116999NIMH NIH HHS R01 MH122412NIMH NIH HHS R01 MH123155NIMH NIH HHS R01 MH123184NIMH NIH HHS R01 MH123619NIMH NIH HHS R01 MH129722NIMH NIH HHS R01 MH129724NIMH NIH HHS R01 MH129725NIMH NIH HHS R01 MH129751NIMH NIH HHS R37 MH057881NIMH NIH HHS R56 MH097849NIMH NIH HHS R56 MH115957NIMH NIH HHS U01 MH100233NIMH NIH HHS U01 MH111658NIMH NIH HHS U01 MH111660NIMH NIH HHS U01 MH111661NIMH NIH HHS U01 MH111662
Abstract
Some individuals with autism spectrum disorder (ASD) carry functional mutations rarely observed in the general population. We explored the genes disrupted by these variants from joint analysis of protein-truncating variants (PTVs), missense variants and copy number variants (CNVs) in a cohort of 63,237 individuals. We discovered 72 genes associated with ASD at false discovery rate (FDR) ≤ 0.001 (185 at FDR ≤ 0.05). De novo PTVs, damaging missense variants and CNVs represented 57.5%, 21.1% and 8.44% of association evidence, while CNVs conferred greatest relative risk. Meta-analysis with cohorts ascertained for developmental delay (DD) (n = 91,605) yielded 373 genes associated with ASD/DD at FDR ≤ 0.001 (664 at FDR ≤ 0.05), some of which differed in relative frequency of mutation between ASD and DD cohorts. The DD-associated genes were enriched in transcriptomes of progenitor and immature neuronal cells, whereas genes showing stronger evidence in ASD were more enriched in maturing neurons and overlapped with schizophrenia-associated genes, emphasizing that these neuropsychiatric disorders may share common pathways to risk.
Indexed as
Autism Spectrum DisorderAutistic DisorderDNA Copy Number VariationsGenetic Predisposition to DiseaseHumansMutation
Identifiers
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.