ArticleCell2020
Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism.
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Article in Cell, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1,499 papers, 3 of them syntheses that pooled it.
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1,499citing papers in PubMed, 3 pooled it
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Who cites it
1,499 citing papers in PubMed, 3 syntheses or guidelines pooled it, 2,371 citations in OpenAlex.
- Metallothionein-Related Findings in Autism Spectrum Disorder: A Systematic Review and Targeted Quantitative Synthesis of Human Studies.Molecular neurobiology · 2026Pooled it
- Long-Read sequencing in psychiatric omics: a systematic review of current evidence.Molecular psychiatry · 2026Pooled it
- Systematic Review: The Psychosocial Impacts of Autism-Related Genetic Testing.Journal of the American Academy of Child and Adolescent Psychiatry · 2026Pooled it
- Evidence supporting the role of GIGYF2 in synapse development and autism.Molecular psychiatry · 2026Article
- Developmentally dynamic, non-convergent transcriptomic profiles in CNV models for schizophrenia risk.Molecular psychiatry · 2026Article
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- Zebrafish behavioral phenomics reveals functional subtypes of autism risk genes.Molecular psychiatry · 2026Article
- Testing the Transferability of Perturbational Similarity Maps Across Species, Cell Systems, and Assay Modalities.Neuroinformatics · 2026Article
- Categories or dimensions? A critical systematic review of taxometric evidence in autism, ADHD, and language disorders.JCPP advances · 2026Article
- Pathological Priming and Developmental Heterochrony as Organizing Concepts in Human iPSC Models of Autism Spectrum Disorder.Molecular neurobiology · 2026Review
- Neuropsychiatry genetics in Africa.Nature communications · 2026Review
- Imputation of fluid intelligence scores reduces ascertainment bias and increases power for analyses of common and rare variants.Nature genetics · 2026Article
- Beyond Seizure Management in a Developmental Epileptic Encephalopathy: Expanding the SLC6A1 Neurodevelopmental Disorder Phenotype.Neurology. Genetics · 2026Article
- Genetic architecture of postpartum psychosis: from common to rare genetic variation.Molecular psychiatry · 2026Article
- Article
- Autism-associated SCN2A deficiency disrupts cortico-striatal circuitry in human brain assembloids.Neuron · 2026Article
- Perinatal insults, genetic susceptibility, and the pathogenesis of neurodevelopmental disorders: from epigenetic remodeling to neural circuit dysfunction-a narrative review.Translational pediatrics · 2026Review
- An ASXL3-thyroid hormone axis in parvalbumin interneurons controls autism-like behaviors.Science advances · 2026Article
- KMT2E recruitment by H3 serotonylation regulates neurodevelopmental chromatin dynamics.bioRxiv : the preprint server for biology · 2026Article
- Analysis of Rare Coding Variation Identifies New Genetic Contributors to Schizophrenia.bioRxiv : the preprint server for biology · 2026Article
1,439 more citing papers are in PubMed but not listed here.
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Authors and funding
43 authors at 20 institutions in 8 countries.
F Kyle SatterstromStanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA; Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital, Boston, MA, USA; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Jack A KosmickiStanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA; Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital, Boston, MA, USA; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA; Harvard Medical School, Boston, MA, USA; Center for Genomic Medicine, Department of Medicine, Massachusetts General Hospital, Boston, MA, USA.
Jiebiao WangDepartment of Statistics, Carnegie Mellon University, Pittsburgh, PA, USA.
Michael S BreenSeaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York, NY, USA; Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, NY, USA; The Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Silvia De RubeisSeaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York, NY, USA; Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, NY, USA; The Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Joon-Yong AnDepartment of Psychiatry, UCSF Weill Institute for Neurosciences, University of California, San Francisco, San Francisco, CA, USA; School of Biosystem and Biomedical Science, College of Health Science, Korea University, Seoul, Republic of Korea.
Minshi PengDepartment of Statistics, Carnegie Mellon University, Pittsburgh, PA, USA.
Ryan CollinsCenter for Genomic Medicine, Department of Medicine, Massachusetts General Hospital, Boston, MA, USA; Program in Bioinformatics and Integrative Genomics, Harvard Medical School, Boston, MA, USA.
Jakob GroveThe Lundbeck Foundation Initiative for Integrative Psychiatric Research, iPSYCH, Aarhus, Denmark; Center for Genomics and Personalized Medicine, Aarhus, Denmark; Department of Biomedicine - Human Genetics, Aarhus University, Aarhus, Denmark.
Lambertus KleiDepartment of Psychiatry, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA.
Christine StevensStanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA; Harvard Medical School, Boston, MA, USA; Center for Genomic Medicine, Department of Medicine, Massachusetts General Hospital, Boston, MA, USA.
Jennifer ReichertSeaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York, NY, USA; Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Maureen S MulhernSeaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York, NY, USA; Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Mykyta ArtomovStanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA; Harvard Medical School, Boston, MA, USA; Center for Genomic Medicine, Department of Medicine, Massachusetts General Hospital, Boston, MA, USA.
Sherif GergesStanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA; Harvard Medical School, Boston, MA, USA; Center for Genomic Medicine, Department of Medicine, Massachusetts General Hospital, Boston, MA, USA.
Brooke SheppardDepartment of Psychiatry, UCSF Weill Institute for Neurosciences, University of California, San Francisco, San Francisco, CA, USA.
Xinyi XuSeaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York, NY, USA; Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Aparna BhaduriDepartment of Neurology, University of California, San Francisco, San Francisco, CA, USA; The Eli and Edythe Broad Center of Regeneration Medicine and Stem Cell Research, University of California, San Francisco, San Francisco, CA, USA.
Utku NormanComputer Engineering Department, Bilkent University, Ankara, Turkey.
Harrison BrandCenter for Genomic Medicine, Department of Medicine, Massachusetts General Hospital, Boston, MA, USA.
Grace SchwartzDepartment of Psychiatry, UCSF Weill Institute for Neurosciences, University of California, San Francisco, San Francisco, CA, USA.
Rachel NguyenCenter for Autism Research and Translation, University of California, Irvine, Irvine, CA, USA.
Elizabeth E GuerreroMIND (Medical Investigation of Neurodevelopmental Disorders) Institute, University of California, Davis, Davis, CA, USA.
Caroline DiasDivision of Genetics, Boston Children's Hospital, Boston, MA, USA; Division of Developmental Medicine, Boston Children's Hospital, Boston, MA, USA.
Autism Sequencing Consortium
iPSYCH-Broad Consortium
Catalina BetancurSorbonne Université, INSERM, CNRS, Neuroscience Paris Seine, Institut de Biologie Paris Seine, Paris, France.
Edwin H CookInstitute for Juvenile Research, Department of Psychiatry, University of Illinois at Chicago, Chicago, IL, USA.
Louise GallagherDepartment of Psychiatry, School of Medicine, Trinity College Dublin, Dublin, Ireland.
Michael GillDepartment of Psychiatry, School of Medicine, Trinity College Dublin, Dublin, Ireland.
James S SutcliffeVanderbilt Genetics Institute, Vanderbilt University School of Medicine, Nashville, TN, USA; Department of Molecular Physiology and Biophysics and Psychiatry, Vanderbilt University School of Medicine, Nashville, TN, USA.
Audrey ThurmNational Institute of Mental Health, NIH, Bethesda, MD, USA.
Michael E ZwickDepartment of Human Genetics, Emory University School of Medicine, Atlanta, GA, USA.
Anders D BørglumThe Lundbeck Foundation Initiative for Integrative Psychiatric Research, iPSYCH, Aarhus, Denmark; Center for Genomics and Personalized Medicine, Aarhus, Denmark; Department of Biomedicine - Human Genetics, Aarhus University, Aarhus, Denmark; Bioinformatics Research Centre, Aarhus University, Aarhus, Denmark.
Matthew W StateDepartment of Psychiatry, UCSF Weill Institute for Neurosciences, University of California, San Francisco, San Francisco, CA, USA.
A Ercument CicekDepartment of Statistics, Carnegie Mellon University, Pittsburgh, PA, USA; Computer Engineering Department, Bilkent University, Ankara, Turkey.
Michael E TalkowskiCenter for Genomic Medicine, Department of Medicine, Massachusetts General Hospital, Boston, MA, USA.
David J CutlerDepartment of Human Genetics, Emory University School of Medicine, Atlanta, GA, USA.
Bernie DevlinDepartment of Psychiatry, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA.
Stephan J SandersDepartment of Psychiatry, UCSF Weill Institute for Neurosciences, University of California, San Francisco, San Francisco, CA, USA. Electronic address: stephan.sanders@ucsf.edu.
Kathryn RoederDepartment of Statistics, Carnegie Mellon University, Pittsburgh, PA, USA; Computational Biology Department, Carnegie Mellon University, Pittsburgh, PA, USA. Electronic address: roeder@andrew.cmu.edu.
Mark J DalyStanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA; Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital, Boston, MA, USA; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA; Harvard Medical School, Boston, MA, USA; Center for Genomic Medicine, Department of Medicine, Massachusetts General Hospital, Boston, MA, USA; Institute for Molecular Medicine Finland (FIMM), University of Helsinki, Helsinki, Finland. Electronic address: mjdaly@broadinstitute.org.
Joseph D BuxbaumSeaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York, NY, USA; Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, NY, USA; The Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, NY, USA; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA; Friedman Brain Institute, Icahn School of Medicine at Mount Sinai, New York, NY, USA; Department of Neuroscience, Icahn School of Medicine at Mount Sinai, New York, NY, USA. Electronic address: joseph.buxbaum@mssm.edu.
University of California, San Francisco · USBroad Institute · USTrinity College Dublin · IECarnegie Mellon University · USEmory University · USIcahn School of Medicine at Mount Sinai · USAarhus University · DKBilkent University · TRHarvard University · USMassachusetts General Hospital · USUniversity of Pittsburgh · USCentre National de la Recherche Scientifique · FRChild Health and Development Institute · USNational Institute of Mental Health · USUniversity of Illinois Chicago · USVanderbilt University · USAllen Institute for Brain Science · USBoston Children's Hospital · USUniversity of California, Davis · USUniversity of California, Irvine · US
Funding
Center for Common Disease GeneticsUM1HG008895 · NHGRI · BROAD INSTITUTE, INC. · PI DALY, MARK JOSEPH, GABRIEL, STACEY · 2016 to 2020
$111.2MTraining Program in Bioinformatics and Integrative GenomicsT32HG002295 · NHGRI · MASSACHUSETTS INSTITUTE OF TECHNOLOGY · PI Peter J Park · 2001 to 2026
$15.8MNeurodevelopmental and Behavioral Phenotyping ZICMH002961 · NIMH · NATIONAL INSTITUTE OF MENTAL HEALTH · PI THURM, AUDREY · 2017 to 2025
$12.6MScalable 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
$5.2MGENETIC ASSOCIATION IN SCHIZOPHRENIA AND OTHER DISORDERSR01MH057881 · NIMH · UNIVERSITY OF PITTSBURGH AT PITTSBURGH · PI DEVLIN, BERNIE · 1998 to 2012
$4.8MDiscovering Biology for Neuropsychiatric Diseases Through Omics Studies on ComorbiditiesR01MH113362 · NIMH · VANDERBILT UNIVERSITY MEDICAL CENTER · PI COX, NANCY J, KNAPIK, ELA W · 2017 to 2021
$3.9MNovel Statistical methods for DNA Sequencing Data, and applications to Autism.R01MH095797 · NIMH · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI IONITA, IULIANA · 2012 to 2022
$3.1M1/4 - The Autism Sequencing Consortium: Autism Gene Discovery in >50,000 ExomesU01MH111661 · NIMH · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI BUXBAUM, JOSEPH D. · 2017 to 2021
$2.6M1/4-The Autism Sequencing Consortium: Autism gene discovery in >20,000 exomesU01MH100233 · NIMH · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI BUXBAUM, JOSEPH D. · 2013 to 2015
$2.5MBUILDS MARBLES: Biorepository Upkeep and Infrastructure for Longitudinal Data Sharing for MARBLESR24ES028533 · NIEHS · UNIVERSITY OF CALIFORNIA AT DAVIS · PI Brittany D. Chambers Butcher, Rebecca Jean Schmidt · 2017 to 2026
$2.3MNHGRI NIH HHS T32 HG002295NHGRI NIH HHS UM1 HG008895NIEHS NIH HHS R24 ES028533NIMH NIH HHS R01 MH057881NIMH NIH HHS R01 MH095797NIMH NIH HHS R01 MH097849NIMH NIH HHS R01 MH106910NIMH NIH HHS R01 MH109900NIMH NIH HHS R01 MH110928NIMH NIH HHS R01 MH113362NIMH NIH HHS R01 MH115957NIMH NIH HHS R37 MH057881NIMH 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
We present the largest exome sequencing study of autism spectrum disorder (ASD) to date (n = 35,584 total samples, 11,986 with ASD). Using an enhanced analytical framework to integrate de novo and case-control rare variation, we identify 102 risk genes at a false discovery rate of 0.1 or less. Of these genes, 49 show higher frequencies of disruptive de novo variants in individuals ascertained to have severe neurodevelopmental delay, whereas 53 show higher frequencies in individuals ascertained to have ASD; comparing ASD cases with mutations in these groups reveals phenotypic differences. Expressed early in brain development, most risk genes have roles in regulation of gene expression or neuronal communication (i.e., mutations effect neurodevelopmental and neurophysiological changes), and 13 fall within loci recurrently hit by copy number variants. In cells from the human cortex, expression of risk genes is enriched in excitatory and inhibitory neuronal lineages, consistent with multiple paths to an excitatory-inhibitory imbalance underlying ASD.
Indexed as
Gene Expression Regulation, DevelopmentalAutistic DisorderCase-Control StudiesCell LineageCerebral CortexCohort StudiesExomeExome SequencingFemaleGene FrequencyGenetic Predisposition to DiseaseHumansMaleMutation, MissenseNeurobiologyNeuronsautism spectrum disordercell typecytoskeletonexcitatory-inhibitory balanceexcitatory neuronsexome sequencinggeneticsinhibitory neuronsliabilityneurodevelopment
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