Evidence map›Paper›PMID 33615640›Full record

ReviewHuman brain mapping2022

Effects of copy number variations on brain structure and risk for psychiatric illness: Large-scale studies from the ENIGMA working groups on CNVs.

Ida E Sønderby, Christopher R K Ching, Sophia I Thomopoulos, Dennis van der Meer, Daqiang Sun, Julio E Villalon-Reina, Ingrid Agartz, Katrin Amunts, Celso Arango, Nicola J Armstrong and 95 more

Open access · goldAbstract readReview
In one paragraph

Review in Human brain mapping, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 48 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
48citing papers in PubMed, 2 pooled it
9.5field-weighted citation impact, top 2% of its field
1 · What the graph read from it

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.

2 · The registry

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.

3 · Its place in the literature

Who cites it

48 citing papers in PubMed, 2 syntheses or guidelines pooled it, 69 citations in OpenAlex.

  1. Pooled it
  2. Pooled it
  3. Article
  4. Article
  5. Research square · 2026
    Article
  6. Article
  7. Genetic insights on the mechanisms of human cortical folding.bioRxiv : the preprint server for biology · 2026
    Article
  8. Article
  9. Article
  10. Article
  11. Article
  12. Review
  13. Mapping Cerebellar Morphology in 15q11.2 CNV Carriers Using Normative Modeling.medRxiv : the preprint server for health sciences · 2025
    Article
  14. Article
  15. Article
  16. Article
  17. Review
  18. Article
  19. Decoding the genetic landscape of autism: A comprehensive review.World journal of clinical pediatrics · 2024
    Article
  20. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

105 authors at 20 institutions in 15 countries.

Ida E SønderbyDepartment of Medical Genetics, Oslo University Hospital, Oslo, Norway.ORCID 0000-0001-7297-7855
Christopher R K ChingImaging Genetics Center, Mark and Mary Stevens Neuroimaging and Informatics Institute, Keck School of Medicine, University of Southern California, Marina del Rey, California, USA.ORCID 0000-0003-2921-3408
Sophia I ThomopoulosImaging Genetics Center, Mark and Mary Stevens Neuroimaging and Informatics Institute, Keck School of Medicine, University of Southern California, Marina del Rey, California, USA.ORCID 0000-0002-0046-4070
Dennis van der MeerNorwegian Centre for Mental Disorders Research (NORMENT), Division of Mental Health and Addiction, Oslo University Hospital and University of Oslo, Oslo, Norway.
Daqiang SunSemel Institute for Neuroscience and Human Behavior, Departments of Psychiatry and Biobehavioral Sciences and Psychology, University of California Los Angeles, Los Angeles, California, USA.
Julio E Villalon-ReinaImaging Genetics Center, Mark and Mary Stevens Neuroimaging and Informatics Institute, Keck School of Medicine, University of Southern California, Marina del Rey, California, USA.
Ingrid AgartzNORMENT, Institute of Clinical Psychiatry, University of Oslo, Oslo, Norway.
Katrin AmuntsInstitute of Neuroscience and Medicine (INM-1), Research Centre Jülich, Jülich, Germany.
Celso ArangoDepartment of Child and Adolescent Psychiatry, Institute of Psychiatry and Mental Health, Hospital General Universitario Gregorio Marañon, IsSGM, Universidad Complutense, School of Medicine, Madrid, Spain.
Nicola J ArmstrongMathematics and Statistics, Murdoch University, Perth, Western Australia, Australia.
Rosa Ayesa-ArriolaCentro Investigación Biomédica en Red de Salud Mental (CIBERSAM), Madrid, Spain.
Geor BakkerDepartment of Psychiatry and Neuropsychology, Maastricht University, Maastricht, The Netherlands.
Anne S BassettClinical Genetics Research Program, Centre for Addiction and Mental Health, Toronto, Ontario, Canada.
Dorret I BoomsmaDepartment of Biological Psychology, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands.
Robin BülowInstitute of Diagnostic Radiology and Neuroradiology, University Medicine Greifswald, Greifswald, Germany.
Nancy J ButcherDepartment of Psychiatry, University of Toronto, Toronto, Ontario, Canada.
Vince D CalhounTri-institutional Center for Translational Research in Neuroimaging and Data Science (TReNDS), Georgia State, Georgia Tech, Emory, Atlanta, Georgia, USA.
Svenja CaspersInstitute of Neuroscience and Medicine (INM-1), Research Centre Jülich, Jülich, Germany.
Eva W C ChowClinical Genetics Research Program, Centre for Addiction and Mental Health, Toronto, Ontario, Canada.
Sven CichonInstitute of Neuroscience and Medicine (INM-1), Research Centre Jülich, Jülich, Germany.
Simone CiufoliniDepartment of Psychosis Studies, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, United Kingdom.
Michael C CraigDepartment of Forensic and Neurodevelopmental Sciences, The Sackler Institute for Translational Neurodevelopmental Sciences, Institute of Psychiatry, Psychology and Neuroscience, King's College, London, United Kingdom.
Benedicto Crespo-FacorroHU Virgen del Rocio, IBIS, Universidad de Sevilla, CIBERSAM, Sevilla, Spain.
Adam C CunninghamMRC Centre for Neuropsychiatric Genetics and Genomics, Division of Psychological Medicine and Clinical Neurosciences, Cardiff University, Cardiff, United Kingdom.
Anders M DaleCenter for Multimodal Imaging and Genetics, University of California San Diego, La Jolla, California, USA.
Paola DazzanDepartment of Psychological Medicine, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, United Kingdom.
Greig I de ZubicarayFaculty of Health, Queensland University of Technology (QUT), Brisbane, Queensland, Australia.
Srdjan DjurovicDepartment of Medical Genetics, Oslo University Hospital, Oslo, Norway.
Joanne L DohertyMRC Centre for Neuropsychiatric Genetics and Genomics, Division of Psychological Medicine and Clinical Neurosciences, Cardiff University, Cardiff, United Kingdom.
Gary DonohoeCenter for Neuroimaging, Genetics and Genomics, School of Psychology, NUI Galway, Galway, Ireland.
Bogdan DraganskiLREN, Centre for Research in Neuroscience, Department of Neuroscience, University Hospital Lausanne and University Lausanne, Lausanne, Switzerland.
Courtney A DurdleMIND Institute and Department of Psychiatry and Behavioral Sciences, University of California Davis, Davis, California, USA.
Stefan EhrlichDivision of Psychological and Social Medicine and Developmental Neurosciences, Faculty of Medicine, TU Dresden, Dresden, Germany.
Beverly S EmanuelDepartment of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA.
Thomas EspesethDepartment of Psychology, University of Oslo, Oslo, Norway.
Simon E FisherLanguage and Genetics Department, Max Planck Institute for Psycholinguistics, Nijmegen, The Netherlands.
Tian GePsychiatric and Neurodevelopmental Genetics Unit, Center for Genomic Medicine, Massachusetts General Hospital, Boston, Massachusetts, USA.
David C GlahnTommy Fuss Center for Neuropsychiatric Disease Research, Boston Children's Hospital, Boston, Massachusetts, USA.
Hans J GrabeGerman Center for Neurodegenerative Diseases (DZNE), Site Rostock/Greifswald, Greifswald, Germany.
Raquel E GurDepartment of Psychiatry, University of Pennsylvania, Philadelphia, Pennsylvania, USA.
Boris A GutmanMedical Imaging Research Center, Department of Biomedical Engineering, Illinois Institute of Technology, Chicago, Illinois, USA.
Jan HaavikDepartment of Biomedicine, University of Bergen, Bergen, Norway.
Asta K HåbergDepartment of Neuromedicine and Movement Science, Faculty of Medicine and Health Sciences, Norwegian University of Science and Technology, Trondheim, Norway.
Laura A HansenDepartment of Psychiatry and Biobehavioral Sciences, University of California Los Angeles, Los Angeles, California, USA.
Ryota HashimotoDepartment of Pathology of Mental Diseases, National Institute of Mental Health, National Center of Neurology and Psychiatry, Tokyo, Japan.
Derrek P HibarPersonalized Healthcare Analytics, Genentech, Inc., South San Francisco, California, USA.
Avram J HolmesDepartment of Psychology, Yale University, New Haven, Connecticut, USA.
Jouke-Jan HottengaDepartment of Biological Psychology, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands.
Hilleke E Hulshoff PolDepartment of Psychiatry, UMC Utrecht Brain Center, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands.
Maria JalbrzikowskiDepartment of Psychiatry, University of Pittsburgh, Pittsburgh, Pennsylvania, USA.
Emma E M KnowlesDepartment of Psychiatry, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts, USA.
Leila KushanSemel Institute for Neuroscience and Human Behavior, University of California Los Angeles, Los Angeles, California, USA.
David E J LindenSchool for Mental Health and Neuroscience, Maastricht University, Maastricht, The Netherlands.
Jingyu LiuTri-institutional Center for Translational Research in Neuroimaging and Data Science (TReNDS), Georgia State, Georgia Tech, Emory, Atlanta, Georgia, USA.
Astri J LundervoldDepartment of Biological and Medical Psychology, University of Bergen, Bergen, Norway.
Sandra Martin-BrevetLREN, Centre for Research in Neuroscience, Department of Neuroscience, University Hospital Lausanne and University Lausanne, Lausanne, Switzerland.
Kenia MartínezDepartment of Child and Adolescent Psychiatry, Institute of Psychiatry and Mental Health, Hospital General Universitario Gregorio Marañon, IsSGM, Universidad Complutense, School of Medicine, Madrid, Spain.
Karen A MatherCentre for Healthy Brain Ageing (CHeBA), School of Psychiatry, Faculty of Medicine, University of New South Wales, Sydney, New South Wales, Australia.
Samuel R MathiasDepartment of Psychiatry, Harvard Medical School, Boston, Massachusetts, USA.
Donna M McDonald-McGinnDepartment of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA.
Allan F McRaeInstitute for Molecular Bioscience, The University of Queensland, Brisbane, Queensland, Australia.
Sarah E MedlandPsychiatric Genetics, QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia.
Torgeir MobergetDepartment of Psychology, Faculty of Social Sciences, University of Oslo, Oslo, Norway.
Claudia ModenatoLREN, Centre for Research in Neuroscience, Department of Neuroscience, University Hospital Lausanne and University Lausanne, Lausanne, Switzerland.
Jennifer Monereo SánchezSchool for Mental Health and Neuroscience, Maastricht University, Maastricht, The Netherlands.
Clara A MoreauSainte Justine Hospital Research Center, University of Montreal, Montreal, QC, Canada.
Thomas W MühleisenInstitute of Neuroscience and Medicine (INM-1), Research Centre Jülich, Jülich, Germany.
Tomas PausBloorview Research Institute, Holland Bloorview Kids Rehabilitation Hospital, Toronto, Ontario, Canada.
Zdenka PausovaTranslational Medicine, The Hospital for Sick Children, Toronto, Ontario, Canada.
Carlos PrietoBioinformatics Service, Nucleus, University of Salamanca, Salamanca, Spain.
Anjanibhargavi RagothamanBiomedical Engineering, Oregon Health and Science University, Portland, Oregon, USA.
Céline S ReinboldDepartment of Biomedicine, University of Basel, Basel, Switzerland.
Tiago Reis MarquesDepartment of Psychosis Studies, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, United Kingdom.
Gabriela M RepettoCenter for Genetics and Genomics, Facultad de Medicina, Clinica Alemana Universidad del Desarrollo, Santiago, Chile.
Alexandre ReymondCenter for Integrative Genomics, University of Lausanne, Lausanne, Switzerland.
David R RoalfDepartment of Psychiatry, University of Pennsylvania, Philadelphia, Pennsylvania, USA.
Borja Rodriguez-HerrerosService de Troubles du Spectre de l'Autisme, Lausanne University Hospital, Lausanne, Switzerland.
James J RuckerDepartment of Psychological Medicine, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, United Kingdom.
Perminder S SachdevCentre for Healthy Brain Ageing (CHeBA), School of Psychiatry, Faculty of Medicine, University of New South Wales, Sydney, New South Wales, Australia.
James E SchmittDepartment of Radiology and Psychiatry, University of Pennsylvania, Philadelphia, Pennsylvania, USA.
Peter R SchofieldNeuroscience Research Australia, Sydney, New South Wales, Australia.
Ana I SilvaNeuroscience and Mental Health Research Institute, Cardiff University, Cardiff, United Kingdom.
Hreinn StefanssonPopulation Genomics, deCODE genetics/Amgen, Reykjavik, Iceland.
Dan J SteinSA MRC Unit on Risk & Resilience in Mental Disorders, Department of Psychiatry and Neuroscience Institute, University of Cape Town, Cape Town, South Africa.
Christian K TamnesNorwegian Centre for Mental Disorders Research (NORMENT), Division of Mental Health and Addiction, Oslo University Hospital and University of Oslo, Oslo, Norway.
Diana Tordesillas-GutiérrezCentro Investigación Biomédica en Red de Salud Mental (CIBERSAM), Madrid, Spain.
Magnus O UlfarssonPopulation Genomics, deCODE genetics/Amgen, Reykjavik, Iceland.
Ariana VajdiSemel Institute for Neuroscience and Human Behavior, University of California Los Angeles, Los Angeles, California, USA.
Dennis van 't EntDepartment of Biological Psychology, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands.
Marianne B M van den BreeMRC Centre for Neuropsychiatric Genetics and Genomics, Division of Psychological Medicine and Clinical Neurosciences, Cardiff University, Cardiff, United Kingdom.
Evangelos VassosSocial, Genetic and Developmental Psychiatry Centre, Institute of Psychiatry, Psychology & Neuroscience, King's College London, London, United Kingdom.
Javier Vázquez-BourgonCentro Investigación Biomédica en Red de Salud Mental (CIBERSAM), Madrid, Spain.
Fidel Vila-RodriguezDepartment of Psychiatry, The University of British Columbia, Vancouver, British Columbia, Canada.
G Bragi WaltersPopulation Genomics, deCODE genetics/Amgen, Reykjavik, Iceland.
Wei WenCentre for Healthy Brain Ageing (CHeBA), School of Psychiatry, Faculty of Medicine, University of New South Wales, Sydney, New South Wales, Australia.
Lars T WestlyeKG Jebsen Centre for Neurodevelopmental Disorders, University of Oslo, Oslo, Norway.
Katharina WittfeldGerman Center for Neurodegenerative Diseases (DZNE), Site Rostock/Greifswald, Greifswald, Germany.
Elaine H ZackaiDepartment of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA.
Kári StefánssonPopulation Genomics, deCODE genetics/Amgen, Reykjavik, Iceland.
Sebastien JacquemontSainte Justine Hospital Research Center, University of Montreal, Montreal, QC, Canada.
Paul M ThompsonImaging Genetics Center, Mark and Mary Stevens Neuroimaging and Informatics Institute, Keck School of Medicine, University of Southern California, Marina del Rey, California, USA.
Carrie E BeardenSemel Institute for Neuroscience and Human Behavior, Departments of Psychiatry and Biobehavioral Sciences and Psychology, University of California Los Angeles, Los Angeles, California, USA.
Ole A AndreassenNorwegian Centre for Mental Disorders Research (NORMENT), Division of Mental Health and Addiction, Oslo University Hospital and University of Oslo, Oslo, Norway.
ENIGMA-CNV Working Group
ENIGMA 22q11.2 Deletion Syndrome Working Group
King's College London · GBOslo University Hospital · NOUniversity of California, Los Angeles · USdeCODE Genetics (Iceland) · ISForschungszentrum Jülich · DEMaastricht University · NLUniversity of Lausanne · CHUniversity of Oslo · NOUniversity of Southern California · USUNSW Sydney · AUBoston Children's Hospital · USCardiff University · GBCentro de Investigación Biomédica en Red de Salud Mental · ESChildren's Hospital of Philadelphia · USUniversitätsmedizin Greifswald · DEUniversity of Pennsylvania · USCentre Hospitalier Universitaire Sainte-Justine · CAGeorgia Institute of Technology · USHospital General Universitario Gregorio Marañón · ESUniversity of Toronto · CA

Funding

NIMH Center Repository Supporting Stem Cell ResearchU24MH068457 · NIMH · RUTGERS THE ST UNIV OF NJ NEW BRUNSWICK · PI BRZUSTOWICZ, LINDA M, KNOWLES, JAMES A · 2003 to 2024
$213.8M
ABCD-USA Consortium: Coordinating CenterU24DA041147 · NIDA · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI SANDRA A BROWN, TERRY L. JERNIGAN · 2015 to 2026
$54.7M
TR&D3: Intrinsic Surface MappingP41EB015922 · NIBIB · UNIVERSITY OF SOUTHERN CALIFORNIA · PI TOGA, ARTHUR W · 2012 to 2022
$14.1M
Project 2: Genetic Mechanisms of Non-syndromic Congenital Cardiac DefectsP01HD070454 · NICHD · ALBERT EINSTEIN COLLEGE OF MEDICINE, INC · PI GOLDMUNTZ, ELIZABETH · 2011 to 2020
$14.0M
Training U54EB020403 · NIBIB · UNIVERSITY OF SOUTHERN CALIFORNIA · PI THOMPSON, PAUL M · 2014 to 2018
$10.1M
1/2-Brain-Behavior and Genetic Studies of the 22q11DSU01MH087626 · NIMH · UNIVERSITY OF PENNSYLVANIA · PI GUR, RAQUEL E · 2010 to 2014
$6.5M
Integration of Genomics & Transcriptomics in Normal Twins & Major DepressionRC2MH089951 · NIMH · UNIV OF NORTH CAROLINA CHAPEL HILL · PI SULLIVAN, PATRICK F · 2009 to 2010
$6.5M
Mining the Genomewide Scan: Genetic Profiles of Structural Loss in Schizophrenia: AD/ADRD supplementR01MH094524 · NIMH · THE MIND RESEARCH NETWORK · PI CALHOUN, VINCE D, TURNER, JESS · 2012 to 2021
$6.3M
Neurodevelopment and Psychosis in the 22q11.2 Deletion SyndromeR01MH085953 · NIMH · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI BEARDEN, CARRIE E · 2010 to 2020
$6.2M
Genomic Studies of Bipolar Disorder in a Large Cohort from The NetherlandsR01MH090553 · NIMH · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI OPHOFF, ROEL A · 2010 to 2014
$6.0M
Integrative Molecular and Phenotype Analysis of 22q11.2 Deletion SyndromeR01MH100900 · NIMH · STANFORD UNIVERSITY · PI HALLMAYER, JOACHIM F · 2013 to 2017
$4.8M
2/2 Brain, Behavior and Genetic Studies of the 22q11 Deletion StudiesU01MH087636 · NIMH · CHILDREN'S HOSP OF PHILADELPHIA · PI EMANUEL, BEVERLY S · 2010 to 2014
$4.6M
Department of HealthMedical Research Council MR/L010305/1Medical Research Council MR/S003444/1MRF_ C0439NCRR NIH HHS C06 RR020547NIA NIH HHS R01 AG058464NIA NIH HHS T32 AG058507NIBIB NIH HHS P41 EB015922NIBIB NIH HHS U54 EB020403NICHD NIH HHS P01 HD070454NIDA NIH HHS U24 DA041147NIEHS NIH HHS K01 ES026840NIH HHS U54 EB020403NIMH NIH HHS K01 MH112774NIMH NIH HHS R01 MH078111NIMH NIH HHS R01 MH078143NIMH NIH HHS R01 MH083824NIMH NIH HHS R01 MH085953NIMH NIH HHS R01 MH090553NIMH NIH HHS R01 MH094524NIMH NIH HHS R01 MH100900NIMH NIH HHS R01 MH107108NIMH NIH HHS R01 MH119185NIMH NIH HHS R01 MH120174NIMH NIH HHS R01 MH129742NIMH NIH HHS R37 MH085953NIMH NIH HHS RC2 MH089951NIMH NIH HHS RC2 MH089995NIMH NIH HHS U01 MH087626NIMH NIH HHS U01 MH087636NIMH NIH HHS U01 MH101723NIMH NIH HHS U01 MH119736NIMH NIH HHS U01 MH119737NIMH NIH HHS U01 MH119738NIMH NIH HHS U01 MH119758NIMH NIH HHS U24 MH068457Wellcome TrustWellcome Trust 100,202/Z/12/Z
6 · The paper itself

Abstract

The Enhancing NeuroImaging Genetics through Meta-Analysis copy number variant (ENIGMA-CNV) and 22q11.2 Deletion Syndrome Working Groups (22q-ENIGMA WGs) were created to gain insight into the involvement of genetic factors in human brain development and related cognitive, psychiatric and behavioral manifestations. To that end, the ENIGMA-CNV WG has collated CNV and magnetic resonance imaging (MRI) data from ~49,000 individuals across 38 global research sites, yielding one of the largest studies to date on the effects of CNVs on brain structures in the general population. The 22q-ENIGMA WG includes 12 international research centers that assessed over 533 individuals with a confirmed 22q11.2 deletion syndrome, 40 with 22q11.2 duplications, and 333 typically developing controls, creating the largest-ever 22q11.2 CNV neuroimaging data set. In this review, we outline the ENIGMA infrastructure and procedures for multi-site analysis of CNVs and MRI data. So far, ENIGMA has identified effects of the 22q11.2, 16p11.2 distal, 15q11.2, and 1q21.1 distal CNVs on subcortical and cortical brain structures. Each CNV is associated with differences in cognitive, neurodevelopmental and neuropsychiatric traits, with characteristic patterns of brain structural abnormalities. Evidence of gene-dosage effects on distinct brain regions also emerged, providing further insight into genotype-phenotype relationships. Taken together, these results offer a more comprehensive picture of molecular mechanisms involved in typical and atypical brain development. This "genotype-first" approach also contributes to our understanding of the etiopathogenesis of brain disorders. Finally, we outline future directions to better understand effects of CNVs on brain structure and behavior.

Indexed as

BrainDNA Copy Number VariationsMagnetic Resonance ImagingMental DisordersNeurodevelopmental DisordersNeuroimagingHumansMulticenter Studies as Topicbrain structural imagingcopy number variantdiffusion tensor imagingevolutiongenetics-first approachneurodevelopmental disorderspsychiatric disorders

Identifiers

PMID33615640
PMCPMC8675420
OpenAlexW3130061971

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