ArticleNature neuroscience2017
Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder.
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Article in Nature neuroscience, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 184 papers.
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184citing papers in PubMed
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Who cites it
184 citing papers in PubMed.
- Imputation of fluid intelligence scores reduces ascertainment bias and increases power for analyses of common and rare variants.Nature genetics · 2026Article
- Somatic mosaicism in the brain: linking development, ageing and neurodegeneration.Nature reviews. Neurology · 2026Review
- ASD mutations in the ciliary gene CEP41 impact development of projection neurons and interneurons in a human cortical organoid model.Molecular psychiatry · 2026Article
- Determinants of mutation susceptibility along the genome are largely invariant across human tissues.Genome biology · 2026Article
- Genome sequencing reveals high diagnostic yield in children with severe sporadic developmental language disorder.European journal of human genetics : EJHG · 2026Article
- High-throughput evaluation of in vitro CRISPR activities enables optimized large-scale multiplex enrichment of rare variants.Nature biomedical engineering · 2026Article
- Article
- Correlated protein-RNA associations and a requirement for HNRNPU in the long-range recruitment of Polycomb Repressive Complexes by the lncRNAs Airn and Kcnq1ot1.PLoS genetics · 2026Article
- Genetic background shapes SEZ6L2 autoimmunity and reveals coordinated immune responses linked to neurological dysfunction.bioRxiv : the preprint server for biology · 2026Article
- Disease insights from brain somatic mosaicism.Experimental & molecular medicine · 2026Review
- The emerging role of gene therapy in autism spectrum disorder.Discover mental health · 2026Review
- Microfluidic low-input profiling reveals lncRNA roles in disease.bioRxiv : the preprint server for biology · 2026Article
- Long-read sequencing of families reveals increased germline and postzygotic mutation rates in repetitive DNA.Nature communications · 2026Article
- Horizon: CNV interpretation through rapid automated ACMG-aligned pathogenicity analysis.Human genetics · 2026Article
- Genome-Wide by Lifetime Environment Interaction Studies of Brain Imaging Phenotypes.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2026Article
- Epigenome-wide analysis identifies DNA methylation signatures associated with the infant pupillary light reflex, a candidate intermediate phenotype for autism.Scientific reports · 2026Article
- SEZ6L2 Loss Disrupts Motor Coordination, Cognitive Function, and Synaptic Connectivity.bioRxiv : the preprint server for biology · 2026Article
- Thrombospondin-1 regulates synaptic transmission in hippocampal field CA2 and social behavior in mice.Neurobiology of disease · 2025Article
- Sez6L2 autoimmunity induces cerebellar ataxia in mice.Journal of neuroinflammation · 2025Article
- Mosaic variants of neurodevelopmental and mitochondrial genes in postmortem paraventricular thalamus in bipolar disorder detected by deep exome sequencing.Psychiatry and clinical neurosciences · 2025Article
124 more citing papers are in PubMed but not listed here.
Corrections and comments
- Erratum issued
Authors and funding
30 authors.
Elaine T LimDivision of Genetics and Genomics, Manton Center for Orphan Disease Research and Howard Hughes Medical Institute, Boston Children's Hospital, Boston, Massachusetts, USA.ORCID 0000-0003-3651-0654
Mohammed UddinMohammed Bin Rashid University of Medicine and Health Sciences, College of Medicine, Dubai, United Arab Emirates.
Silvia De RubeisSeaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai,New York, New York, USA.
Yingleong ChanProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.
Anne S KamumbuDivision of Genetics and Genomics, Manton Center for Orphan Disease Research and Howard Hughes Medical Institute, Boston Children's Hospital, Boston, Massachusetts, USA.
Xiaochang ZhangDivision of Genetics and Genomics, Manton Center for Orphan Disease Research and Howard Hughes Medical Institute, Boston Children's Hospital, Boston, Massachusetts, USA.
Alissa M D'GamaDivision of Genetics and Genomics, Manton Center for Orphan Disease Research and Howard Hughes Medical Institute, Boston Children's Hospital, Boston, Massachusetts, USA.
Sonia N KimDivision of Genetics and Genomics, Manton Center for Orphan Disease Research and Howard Hughes Medical Institute, Boston Children's Hospital, Boston, Massachusetts, USA.
Robert Sean HillDivision of Genetics and Genomics, Manton Center for Orphan Disease Research and Howard Hughes Medical Institute, Boston Children's Hospital, Boston, Massachusetts, USA.
Arthur P GoldbergSeaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai,New York, New York, USA.
Christopher PoultneySeaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai,New York, New York, USA.
Nancy J MinshewDepartment of Psychiatry, Center For Excellence in Autism Research, University of Pittsburgh, Pittsburgh, Pennsylvania, USA.
Itaru KushimaDepartment of Psychiatry, Nagoya University Graduate School of Medicine, Nagoya, Japan.
Branko AleksicDepartment of Psychiatry, Nagoya University Graduate School of Medicine, Nagoya, Japan.ORCID 0000-0001-8982-4580
Norio OzakiDepartment of Psychiatry, Nagoya University Graduate School of Medicine, Nagoya, Japan.
Mara ParelladaChild and Adolescent Psychiatry Department, Hospital General Universitario Gregorio Marañón, School of Medicine, Universidad Complutense, IiSGM, CIBERSAM, Madrid, Spain.
Celso ArangoChild and Adolescent Psychiatry Department, Hospital General Universitario Gregorio Marañón, School of Medicine, Universidad Complutense, IiSGM, CIBERSAM, Madrid, Spain.
Maria J PenzolChild and Adolescent Psychiatry Department, Hospital General Universitario Gregorio Marañón, IiSGM, CIBERSAM, Madrid, Spain.
Angel CarracedoGrupo de Medicina Xenomica, Universidade de Santiago de Compostela, Centro Nacional de Genotipado-Plataforma de Recursos Biomoleculares y Bioinformaticos-Instituto de Salud Carlos III (CeGen-PRB2-ISCIII), Santiago de Compostela, Spain.
Alexander KolevzonSeaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai,New York, New York, USA.
Christina M HultmanDepartment of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden.
Lauren A WeissDepartment of Psychiatry and Institute for Human Genetics, University of California, San Francisco, San Francisco, California, USA.
Menachem FromerSeaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai,New York, New York, USA.
Andreas G ChiocchettiDepartment of Child and Adolescent Psychiatry, Psychosomatics and Psychotherapy, Autism Research and Intervention Center of Excellence, University Hospital Frankfurt, Goethe University, Frankfurt am Main, Germany.
Christine M FreitagDepartment of Child and Adolescent Psychiatry, Psychosomatics and Psychotherapy, Autism Research and Intervention Center of Excellence, University Hospital Frankfurt, Goethe University, Frankfurt am Main, Germany.
Autism Sequencing Consortium
George M ChurchProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.
Stephen W SchererThe Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada.
Joseph D BuxbaumSeaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai,New York, New York, USA.
Christopher A WalshDivision of Genetics and Genomics, Manton Center for Orphan Disease Research and Howard Hughes Medical Institute, Boston Children's Hospital, Boston, Massachusetts, USA.ORCID 0000-0002-0156-2238
Funding
Medical Scientist Training ProgramT32GM007753 · NIGMS · HARVARD UNIVERSITY (MEDICAL SCHOOL) · PI WALENSKY, LOREN DAVID · 1985 to 2021
$50.0MCausal Transcriptional Consequences of Human Genetic VariationP50HG005550 · NHGRI · HARVARD MEDICAL SCHOOL · PI CHURCH, GEORGE M · 2010 to 2014
$19.0MComprehensive Sequencing and Analysis of Variation in NHLBI CohortsUC2HL102925 · NHLBI · BROAD INSTITUTE, INC. · PI ALTSHULER, DAVID, GABRIEL, STACEY · 2010 to 2010
$14.7MMolecular, Cellular, & Developmental Dynamics PhD ProgramT32GM007226 · NIGMS · HARVARD UNIVERSITY (MEDICAL SCHOOL) · PI VAN VACTOR, DAVID L. · 1985 to 2021
$14.4MNorthwest Genomics CenterUC2HL102926 · NHLBI · UNIVERSITY OF WASHINGTON · PI GREEN, PHILIP P, NICKERSON, DEBORAH A · 2010 to 2010
$14.0MCell 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
$12.7MNorthwest Genomics CenterRC2HL102926 · NHLBI · UNIVERSITY OF WASHINGTON · PI GREEN, PHILIP P, NICKERSON, DEBORAH A · 2009 to 2009
$11.0MCenter for Genomically Engineered OrgansRM1HG008525 · NHGRI · HARVARD MEDICAL SCHOOL · PI CHURCH, GEORGE M · 2015 to 2019
$10.2MComprehensive Sequencing and Analysis of Variation in NHLBI CohortsRC2HL102925 · NHLBI · BROAD INSTITUTE, INC. · PI ALTSHULER, DAVID, GABRIEL, STACEY · 2009 to 2009
$10.2M1/2-Somatic mosaicism and autism spectrum disorderU01MH106883 · NIMH · BOSTON CHILDREN'S HOSPITAL · PI PARK, PETER J, WALSH, CHRISTOPHER A. · 2015 to 2019
$9.2MFinding Autism Genes by Genomic Copy Number AnalysisR01MH083565 · NIMH · BOSTON CHILDREN'S HOSPITAL · PI WALSH, CHRISTOPHER A. · 2007 to 2016
$6.9MPopulation-Based Autism Genetics & Environment StudyR01MH097849 · NIMH · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI BUXBAUM, JOSEPH D. · 2014 to 2022
$5.2MHoward Hughes Medical InstituteNCRR NIH HHS S10 RR028832NHGRI NIH HHS P50 HG005550NHGRI NIH HHS RM1 HG008525NHLBI NIH HHS RC2 HL102923NHLBI NIH HHS RC2 HL102924NHLBI NIH HHS RC2 HL102925NHLBI NIH HHS RC2 HL102926NHLBI NIH HHS RC2 HL103010NHLBI NIH HHS UC2 HL102923NHLBI NIH HHS UC2 HL102924NHLBI NIH HHS UC2 HL102925NHLBI NIH HHS UC2 HL102926NHLBI NIH HHS UC2 HL103010NICHD NIH HHS U54 HD090255NIGMS NIH HHS T32 GM007226NIGMS NIH HHS T32 GM007753NIH HHS S10 OD018522NIMH NIH HHS R01 MH083565NIMH NIH HHS R01 MH095797NIMH NIH HHS R01 MH097849NIMH NIH HHS R01 MH106910NIMH NIH HHS R01 MH113362NIMH NIH HHS R21 MH106888NIMH NIH HHS RC2 MH089952NIMH NIH HHS U01 MH100209NIMH NIH HHS U01 MH100229NIMH NIH HHS U01 MH100233NIMH NIH HHS U01 MH100239NIMH NIH HHS U01 MH106883NIMH NIH HHS U01 MH111661NIMH NIH HHS U01 MH111662NINDS NIH HHS R01 NS032457
Abstract
We systematically analyzed postzygotic mutations (PZMs) in whole-exome sequences from the largest collection of trios (5,947) with autism spectrum disorder (ASD) available, including 282 unpublished trios, and performed resequencing using multiple independent technologies. We identified 7.5% of de novo mutations as PZMs, 83.3% of which were not described in previous studies. Damaging, nonsynonymous PZMs within critical exons of prenatally expressed genes were more common in ASD probands than controls (P < 1 × 10
Indexed as
Autism Spectrum DisorderDatabases, GeneticGenetic Predisposition to DiseaseGenetic VariationHumansMosaicismMutation, MissenseZygote
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