ArticleCell genomics2023
Schizophrenia-associated somatic copy-number variants from 12,834 cases reveal recurrent
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Article in Cell genomics, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 31 papers, 1 of them a synthesis that pooled it.
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31citing papers in PubMed, 1 pooled it
12.2field-weighted citation impact, top 1% of its field
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Who cites it
31 citing papers in PubMed, 1 synthesis or guideline pooled it, 39 citations in OpenAlex.
- Increased somatic mosaicism in autosomal and X chromosomes for suicide death.Molecular psychiatry · 2025Pooled it
- Somatic mosaicism in the brain: linking development, ageing and neurodegeneration.Nature reviews. Neurology · 2026Review
- In vivo dissection of human NRXN1 isoforms reveals gain-of-function pathogenicity of schizophrenia-associated 3' deletions.Human molecular genetics · 2026Article
- Computational strategies for copy number variation detection, disease association, and beyond.Genome biology · 2026Review
- Advancing risk gene discovery across the allele frequency spectrum.HGG advances · 2026Review
- Patterns and drivers of 43,617 mosaic chromosomal alterations in blood.Nature genetics · 2026Article
- Associations between mosaic loss and schizophrenia or bipolar disorder of young age.Molecular psychiatry · 2026Article
- Widespread distribution of Alu/Alu-mediated genomic rearrangement predisposing to a broad range of Mendelian disease and cancer in human populations.Genome medicine · 2026Article
- Disease insights from brain somatic mosaicism.Experimental & molecular medicine · 2026Review
- Female iPSC X-chromosome inactivation (XCI) erosion and its transcriptomic effects during CRISPR gene editing and neural differentiation.bioRxiv : the preprint server for biology · 2026Article
- A scoping review of genetic studies of treatment-resistant schizophrenia.Frontiers in genetics · 2026Review
- Roles of NRXN1 in neuropsychiatric disorders: from genetic lesion to molecular mechanism.Frontiers in neuroscience · 2026Review
- Recurrent somatic copy number alterations in resected cerebral cavernous malformations.Human genomics · 2025Article
- Genetic Risk, Self-Harm, and Violence in Schizophrenia: A Narrative Review of Implications for Early Identification and Intervention.Clinical neuropsychiatry · 2025Review
- Article
- Persistent chromatin loops shape gene expression plasticity upon stimulation and restimulation of human neurons.bioRxiv : the preprint server for biology · 2025Article
- Learning induces persistent chromatin loops underlying robust gene expression during memory recall.bioRxiv : the preprint server for biology · 2025Article
- The Psychiatric Genomics Consortium: discoveries and directions.The lancet. Psychiatry · 2025Review
- The Somatic Mosaicism across Human Tissues Network.Nature · 2025Review
- Targeting the Roots of Psychosis: The Role of Aberrant Salience.Pediatric reports · 2025Review
Corrections and comments
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Authors and funding
23 authors at 7 institutions in 2 countries.
Eduardo A MauryDivision of Genetics and Genomics, Manton Center for Orphan Disease, Boston Children's Hospital, Boston, MA, USA.
Maxwell A ShermanBrigham and Women's Hospital, Division of Genetics & Center for Data Sciences, Boston, MA, USA.
Giulio GenoveseProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Thomas G GilgenastDepartment of Bioengineering, University of Pennsylvania, Philadelphia, PA, USA.
Tushar KamathStanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
S J BurrisStanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Prashanth RajarajanNash Family Department of Neuroscience, Friedman Brain Institute, Department of Genetics & Genomics, Icahn Institute of Genomics and Multiscale Biology, Department of Psychiatry, Pamela Sklar Division of Psychiatric Genomics, Icahn School of Medicine of Mount Sinai, New York, NY, USA.
Erin FlahertyNash Family Department of Neuroscience, Friedman Brain Institute, Department of Genetics & Genomics, Icahn Institute of Genomics and Multiscale Biology, Department of Psychiatry, Pamela Sklar Division of Psychiatric Genomics, Icahn School of Medicine of Mount Sinai, New York, NY, USA.
Schahram AkbarianNash Family Department of Neuroscience, Friedman Brain Institute, Department of Genetics & Genomics, Icahn Institute of Genomics and Multiscale Biology, Department of Psychiatry, Pamela Sklar Division of Psychiatric Genomics, Icahn School of Medicine of Mount Sinai, New York, NY, USA.
Andrew ChessNash Family Department of Neuroscience, Friedman Brain Institute, Department of Genetics & Genomics, Icahn Institute of Genomics and Multiscale Biology, Department of Psychiatry, Pamela Sklar Division of Psychiatric Genomics, Icahn School of Medicine of Mount Sinai, New York, NY, USA.
Steven A McCarrollProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Po-Ru LohProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Jennifer E Phillips-CreminsDepartment of Bioengineering, University of Pennsylvania, Philadelphia, PA, USA.
Kristen J BrennandNash Family Department of Neuroscience, Friedman Brain Institute, Department of Genetics & Genomics, Icahn Institute of Genomics and Multiscale Biology, Department of Psychiatry, Pamela Sklar Division of Psychiatric Genomics, Icahn School of Medicine of Mount Sinai, New York, NY, USA.
Evan Z MacoskoStanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
James T R WaltersMRC Centre for Neuropsychiatric Genetics and Genomics, Division of Psychiatry and Clinical Neurosciences, Cardiff University, Cardiff, Wales.
Michael O'DonovanMRC Centre for Neuropsychiatric Genetics and Genomics, Division of Psychiatry and Clinical Neurosciences, Cardiff University, Cardiff, Wales.
Patrick SullivanDepartment of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.
Psychiatric Genomic Consortium Schizophrenia and CNV workgroup
Brain Somatic Mosaicism Network
Jonathan SebatUniversity of California San Diego, Department of Psychiatry, Department of Cellular & Molecular Medicine, Beyster Center of Psychiatric Genomics, San Diego, CA, USA.
Eunjung A LeeDivision of Genetics and Genomics, Manton Center for Orphan Disease, Boston Children's Hospital, Boston, MA, USA.
Christopher A WalshDivision of Genetics and Genomics, Manton Center for Orphan Disease, Boston Children's Hospital, Boston, MA, USA.
Broad Institute · USCardiff University · GBUniversity of Pennsylvania · USAllen Institute for Brain Science · USUniversity of North Carolina at Chapel Hill · USBrigham and Women's Hospital · USUniversity of San Diego · US
Funding
Medical Scientist Training ProgramT32GM007753 · NIGMS · HARVARD UNIVERSITY (MEDICAL SCHOOL) · PI WALENSKY, LOREN DAVID · 1985 to 2021
$50.0MRESEARCH TRAINING-MEDICAL INFORMATICS 90T15LM007092 · NLM · HARVARD UNIVERSITY (SCH OF PUBLIC HLTH) · PI Nils Gehlenborg · 1992 to 2026
$32.8MAfrican Ancestry Genomic Psychiatry CohortR01MH104964 · NIMH · SUNY DOWNSTATE MEDICAL CENTER · PI BIGDELI, TIM BERNARD, FANOUS, AYMAN H · 2015 to 2024
$16.7MMedical Scientist Training ProgramT32GM144273 · NIGMS · HARVARD MEDICAL SCHOOL · PI David Shumway Jones, Jacqueline A. Lees · 2022 to 2026
$14.7MMOLECULAR BIOPHYSICS TRAINING GRANTT32GM008313 · NIGMS · HARVARD UNIVERSITY (MEDICAL SCHOOL) · PI MURTHY, VENKATESH N · 1989 to 2023
$14.6MPREDOCTORAL TRAINING IN GENETICST32GM007544 · NIGMS · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI MORAN, JOHN V. · 1985 to 2022
$11.3MPreclinical CoreP50HD103573 · NICHD · UNIV OF NORTH CAROLINA CHAPEL HILL · PI GABRIEL S DICHTER · 2020 to 2026
$9.7MGenetic Analysis and Manipulation Core (GAEC)P50HD105351 · NICHD · BOSTON CHILDREN'S HOSPITAL · PI Hisashi Umemori · 2021 to 2026
$9.4M1/2-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
$8.2MHigher Order Chromatin and Genetic Risk for SchizophreniaR01MH106056 · NIMH · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI AKBARIAN, SCHAHRAM, BRENNAND, KRISTEN JENNIFER · 2015 to 2023
$6.7MSystematic Functional Interpretation of Regulatory Variants in SchizophreniaR01MH106575 · NIMH · ENDEAVOR HEALTH CLINICAL OPERATIONS · PI DUAN, JUBAO · 2016 to 2025
$6.1MNHGRI NIH HHS R01 HG006855NIA NIH HHS DP2 AG058488NIA NIH HHS DP2 AG072437NIA NIH HHS F30 AG069446NIA NIH HHS K01 AG051791NIA NIH HHS R01 AG070921NICHD NIH HHS P50 HD103573NICHD NIH HHS P50 HD105351NIDDK NIH HHS U01 DK127405NIEHS NIH HHS DP2 ES030554NIGMS NIH HHS T32 GM007544NIGMS NIH HHS T32 GM007753NIGMS NIH HHS T32 GM008313NIGMS NIH HHS T32 GM144273NIH HHS S10 OD026880NIH HHS S10 OD030463NIMH NIH HHS DP1 MH129957NIMH NIH HHS F31 MH124292NIMH NIH HHS F31 MH124393NIMH NIH HHS R01 MH104964NIMH NIH HHS R01 MH106056NIMH NIH HHS R01 MH106575NIMH NIH HHS R01 MH113715NIMH NIH HHS R37 MH120269NIMH NIH HHS U01 MH106883NIMH NIH HHS U01 MH109501NIMH NIH HHS U01 MH119746NIMH NIH HHS U01 MH124602NINDS NIH HHS R01 NS114226NLM NIH HHS T15 LM007092
Abstract
While germline copy-number variants (CNVs) contribute to schizophrenia (SCZ) risk, the contribution of somatic CNVs (sCNVs)-present in some but not all cells-remains unknown. We identified sCNVs using blood-derived genotype arrays from 12,834 SCZ cases and 11,648 controls, filtering sCNVs at loci recurrently mutated in clonal blood disorders. Likely early-developmental sCNVs were more common in cases (0.91%) than controls (0.51%, p = 2.68e-4), with recurrent somatic deletions of exons 1-5 of the
Indexed as
ABCB11genomicsmosaicismNRXN1schizophreniasomaticstructural variantstreatment resistance
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