ArticleNature neuroscience2021
Large mosaic copy number variations confer autism risk.
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Article in Nature neuroscience, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 43 papers, 2 of them syntheses that pooled it.
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43citing papers in PubMed, 2 pooled it
8.3field-weighted citation impact, top 2% of its field
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Who cites it
43 citing papers in PubMed, 2 syntheses or guidelines pooled it, 59 citations in OpenAlex.
- Increased somatic mosaicism in autosomal and X chromosomes for suicide death.Molecular psychiatry · 2025Pooled it
- Fully exploiting SNP arrays: a systematic review on the tools to extract underlying genomic structure.Briefings in bioinformatics · 2022Pooled it
- A Synonymous DLG4 Variant (c.771G>A) Causes Exon 9 Skipping via Paternal Germline Mosaicism in DLG4-Related Synaptopathy.Molecular genetics & genomic medicine · 2026Article
- Associations between mosaic loss and schizophrenia or bipolar disorder of young age.Molecular psychiatry · 2026Article
- Disease insights from brain somatic mosaicism.Experimental & molecular medicine · 2026Review
- High-throughput mapping of spontaneous mitotic crossover and genome instability events with sci-L3-Strand-seq.Nucleic acids research · 2026Article
- Mosaic variants of neurodevelopmental and mitochondrial genes in postmortem paraventricular thalamus in bipolar disorder detected by deep exome sequencing.Psychiatry and clinical neurosciences · 2025Article
- Article
- Diversity and consequences of structural variation in the human genome.Nature reviews. Genetics · 2025Review
- The Somatic Mosaicism across Human Tissues Network.Nature · 2025Review
- A Framework for Comparison and Interpretation of Machine Learning Classifiers to Predict Autism on the ABIDE Dataset.Human brain mapping · 2025Article
- Review
- Somatic Mosaicism in Brain Disorders.Annual review of pathology · 2025Review
- Review
- Molecular diagnosis of 405 individuals with autism spectrum disorder.European journal of human genetics : EJHG · 2024Article
- A modeling of complex trait phenotypic variance determinants.PNAS nexus · 2024Article
- Low-level brain somatic mutations in exonic regions are collectively implicated in autism with germline mutations in autism risk genes.Experimental & molecular medicine · 2024Article
- Genomic Mosaicism of the Brain: Origin, Impact, and Utility.Neuroscience bulletin · 2024Review
- Strategies for dissecting the complexity of neurodevelopmental disorders.Trends in genetics : TIG · 2024Review
- Genomic data resources of the Brain Somatic Mosaicism Network for neuropsychiatric diseases.Scientific data · 2023Article
Corrections and comments
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Authors and funding
10 authors at 4 institutions in 1 country.
Maxwell A ShermanComputer Science and Artificial Intelligence Laboratory, Massachusetts Institute of Technology, Cambridge, MA, USA. maxas@mit.edu.ORCID http://orcid.org/0000-0002-5297-9252
Rachel E RodinDivision of Genetics and Genomics, Manton Center for Orphan Disease, and Howard Hughes Medical Institute, Boston Children's Hospital, Boston, MA, USA.
Giulio GenoveseBroad Institute of MIT and Harvard, Cambridge, MA, USA.ORCID http://orcid.org/0000-0003-3066-5575
Caroline DiasDivision of Genetics and Genomics, Manton Center for Orphan Disease, and Howard Hughes Medical Institute, Boston Children's Hospital, Boston, MA, USA.
Alison R BartonDivision of Genetics, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, USA.ORCID http://orcid.org/0000-0003-0882-0196
Ronen E MukamelDivision of Genetics, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, USA.
Bonnie BergerComputer Science and Artificial Intelligence Laboratory, Massachusetts Institute of Technology, Cambridge, MA, USA.
Peter J ParkDepartment of Biomedical Informatics, Harvard Medical School, Boston, MA, USA. peter_park@hms.harvard.edu.ORCID http://orcid.org/0000-0001-9378-960X
Christopher A WalshBroad Institute of MIT and Harvard, Cambridge, MA, USA. christopher.walsh@childrens.harvard.edu.ORCID http://orcid.org/0000-0002-0156-2238
Po-Ru LohDivision of Genetics, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, USA. poruloh@broadinstitute.org.ORCID http://orcid.org/0000-0001-5542-9064
Broad Institute · USBoston Children's Hospital · USHarvard University · USMassachusetts Institute of Technology · US
Funding
Medical Scientist Training ProgramT32GM007753 · NIGMS · HARVARD UNIVERSITY (MEDICAL SCHOOL) · PI WALENSKY, LOREN DAVID · 1985 to 2021
$50.0MAfrican Ancestry Genomic Psychiatry CohortR01MH104964 · NIMH · SUNY DOWNSTATE MEDICAL CENTER · PI BIGDELI, TIM BERNARD, FANOUS, AYMAN H · 2015 to 2024
$16.7MTraining Program in Bioinformatics and Integrative GenomicsT32HG002295 · NHGRI · MASSACHUSETTS INSTITUTE OF TECHNOLOGY · PI Peter J Park · 2001 to 2026
$15.8MCell Identity Determination In Human Brain: Somatic Mutation and Cell LineageR01NS032457 · NINDS · BOSTON CHILDREN'S HOSPITAL · PI Alice Eunjung Lee, Christopher A. Walsh · 1995 to 2026
$12.7M1/2-Somatic mosaicism and autism spectrum disorderU01MH106883 · NIMH · BOSTON CHILDREN'S HOSPITAL · PI PARK, PETER J, WALSH, CHRISTOPHER A. · 2015 to 2019
$9.2MStructurally complex genome loci in human populations and human phenotypesR01HG006855 · NHGRI · HARVARD MEDICAL SCHOOL · PI Steven Andrew McCarroll · 2012 to 2026
$8.2MMouse Neurodevelopmental Behavior CoreU54HD090255 · NICHD · BOSTON CHILDREN'S HOSPITAL · PI POMEROY, SCOTT LOREN · 2016 to 2020
$5.2MRevealing somatic genome alterations and their clinical sequelae: Ultrasensitive computational detection of mosaic structural variantsDP2ES030554 · NIEHS · BRIGHAM AND WOMEN'S HOSPITAL · PI LOH, PO-RU · 2018 to 2018
$2.7MTranslational Post-doctoral Training in NeurodevelopmentT32MH112510 · NIMH · BOSTON CHILDREN'S HOSPITAL · PI DAVID C GLAHN, CHARLES Alexander NELSON · 2017 to 2026
$2.6MCompressive genomics for large omics data sets: Algorithms applications & toolsR01GM108348 · NIGMS · MASSACHUSETTS INSTITUTE OF TECHNOLOGY · PI BERGER, BONNIE · 2013 to 2019
$2.1MExploring the role of genomic repeats in cardiovascular disease heritabilityK25HL150334 · NHLBI · BRIGHAM AND WOMEN'S HOSPITAL · PI MUKAMEL, RONEN · 2020 to 2024
$783kExploring the role of genetic structural variation in neuropsychiatric diseasesF31MH124393 · NIMH · MASSACHUSETTS INSTITUTE OF TECHNOLOGY · PI SHERMAN, MAXWELL AARON · 2020 to 2022
$109kNational Science Foundation (NSF) DMS-1939015NHGRI NIH HHS R01 HG006855NHGRI NIH HHS T32 HG002295NHLBI NIH HHS K25 HL150334NICHD NIH HHS U54 HD090255NIEHS NIH HHS DP2 ES030554NIGMS NIH HHS R01 GM108348NIGMS NIH HHS T32 GM007753NIMH NIH HHS F31 MH124393NIMH NIH HHS R01 MH104964NIMH NIH HHS T32 MH112510NIMH NIH HHS U01 MH106883NINDS NIH HHS R01 NS032457U.S. Department of Health & Human Services | National Institutes of Health (NIH) DP2ES030554U.S. Department of Health & Human Services | NIH | National Heart, Lung, and Blood Institute (NHLBI) K25HL150334U.S. Department of Health & Human Services | NIH | National Human Genome Research Institute (NHGRI) R01HG006855U.S. Department of Health & Human Services | NIH | National Institute of General Medical Sciences (NIGMS) R01GM108348U.S. Department of Health & Human Services | NIH | National Institute of General Medical Sciences (NIGMS) T32GM007753U.S. Department of Health & Human Services | NIH | National Institute of Mental Health (NIMH) F31MH124393U.S. Department of Health & Human Services | NIH | National Institute of Mental Health (NIMH) R01MH104964U.S. Department of Health & Human Services | NIH | National Institute of Mental Health (NIMH) T32MH112510U.S. Department of Health & Human Services | NIH | National Institute of Mental Health (NIMH) U01MH106883
Abstract
Although germline de novo copy number variants (CNVs) are known causes of autism spectrum disorder (ASD), the contribution of mosaic (early-developmental) copy number variants (mCNVs) has not been explored. In this study, we assessed the contribution of mCNVs to ASD by ascertaining mCNVs in genotype array intensity data from 12,077 probands with ASD and 5,500 unaffected siblings. We detected 46 mCNVs in probands and 19 mCNVs in siblings, affecting 2.8-73.8% of cells. Probands carried a significant burden of large (>4-Mb) mCNVs, which were detected in 25 probands but only one sibling (odds ratio = 11.4, 95% confidence interval = 1.5-84.2, P = 7.4 × 10
Indexed as
DNA Copy Number VariationsMosaicismAdultAutism Spectrum DisorderAutopsyBrain ChemistryChildChild Development Disorders, PervasiveCohort StudiesGenetic Predisposition to DiseaseGenotypeGerm-Line MutationHumansRisk AssessmentTissue Banks
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