ArticleMolecular psychiatry2020
Large-scale mapping of cortical alterations in 22q11.2 deletion syndrome: Convergence with idiopathic psychosis and effects of deletion size.
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Article in Molecular psychiatry, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 108 papers, 5 of them syntheses that pooled it.
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108citing papers in PubMed, 5 pooled it
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Who cites it
108 citing papers in PubMed, 5 syntheses or guidelines pooled it, 194 citations in OpenAlex.
- Normative Modeling of Brain Morphometry in Clinical High Risk for Psychosis.JAMA psychiatry · 2024Pooled it
- Cross disorder comparisons of brain structure in schizophrenia, bipolar disorder, major depressive disorder, and 22q11.2 deletion syndrome: A review of ENIGMA findings.Psychiatry and clinical neurosciences · 2022Pooled it
- Cortical and subcortical neuroanatomical signatures of schizotypy in 3004 individuals assessed in a worldwide ENIGMA study.Molecular psychiatry · 2022Pooled it
- Association of Structural Magnetic Resonance Imaging Measures With Psychosis Onset in Individuals at Clinical High Risk for Developing Psychosis: An ENIGMA Working Group Mega-analysis.JAMA psychiatry · 2021Pooled it
- ENIGMA and global neuroscience: A decade of large-scale studies of the brain in health and disease across more than 40 countries.Translational psychiatry · 2020Pooled it
- Multiscale characterization of cortical signatures in positive and negative schizotypy: a worldwide ENIGMA study.Molecular psychiatry · 2026Article
- Subtyping psychotic disorders using a data-driven approach reveals divergent cortical and cellular signatures.Molecular psychiatry · 2026Article
- Convergent and Divergent Cerebellar Alterations in 22q11.2 Copy Number Variants.Biological psychiatry global open science · 2026Article
- Gene dosage effects of 22q11.2 copy number variants on in-vivo measures of white matter axonal density and dispersion.Molecular psychiatry · 2026Article
- Developmental changes of the white matter functional connectome.Molecular psychiatry · 2026Article
- The Hidden Architecture of Brain Structural Variability in 22q11.2 Deletion Syndrome: A Multi-site Study.medRxiv : the preprint server for health sciences · 2026Article
- Copy number variants reveal divergent genetic and diagnostic cortical signatures across psychiatric disorders.Research square · 2026Article
- Article
- The role of tight junction proteins in the pathogenesis of schizophrenia.European archives of psychiatry and clinical neuroscience · 2026Review
- The T1-Weighted/T2-Weighted Ratio as an In Vivo Proxy for Reduced Intracortical Myelin Content in Youth With RASopathies: A Cross-Sectional Study.Biological psychiatry. Cognitive neuroscience and neuroimaging · 2026Article
- Rare-variant aggregation highlights disease-linked genes associated with brain volume variation.American journal of human genetics · 2026Article
- A pattern-learning algorithm associates copy number variations with brain structure and behavioural variables in an adolescent population cohort.Nature biomedical engineering · 2026Article
- Charting Brain Structure in 22q11.2 Deletion Syndrome with Clinical Neuroimaging.medRxiv : the preprint server for health sciences · 2026Article
- Neurodevelopment in congenital heart disease: a review of antenatal mechanisms and therapeutic potentials.Pediatric research · 2025Review
- Penetrance of Neurodevelopmental Copy Number Variants Is Associated With Variations in Cortical Morphology.Biological psychiatry. Cognitive neuroscience and neuroimaging · 2025Article
48 more citing papers are in PubMed but not listed here.
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Authors and funding
50 authors at 20 institutions in 6 countries.
Daqiang SunDepartment of Psychiatry and Biobehavioral Sciences, Semel Institute for Neuroscience and Human Behavior, University of California, Los Angeles, Los Angeles, CA, USA.
Christopher R K ChingDepartment of Psychiatry and Biobehavioral Sciences, Semel Institute for Neuroscience and Human Behavior, University of California, Los Angeles, Los Angeles, CA, USA.
Amy LinDepartment of Psychiatry and Biobehavioral Sciences, Semel Institute for Neuroscience and Human Behavior, University of California, Los Angeles, Los Angeles, CA, USA.
Jennifer K ForsythDepartment of Psychiatry and Biobehavioral Sciences, Semel Institute for Neuroscience and Human Behavior, University of California, Los Angeles, Los Angeles, CA, USA.
Leila KushanDepartment of Psychiatry and Biobehavioral Sciences, Semel Institute for Neuroscience and Human Behavior, University of California, Los Angeles, Los Angeles, CA, USA.
Ariana VajdiDepartment of Psychiatry and Biobehavioral Sciences, Semel Institute for Neuroscience and Human Behavior, University of California, Los Angeles, Los Angeles, CA, USA.
Maria JalbrzikowskiDepartment of Psychiatry, University of Pittsburgh, Pittsburgh, PA, USA.
Laura HansenDepartment of Psychiatry and Biobehavioral Sciences, Semel Institute for Neuroscience and Human Behavior, University of California, Los Angeles, Los Angeles, CA, USA.
Julio E Villalon-ReinaImaging Genetics Center, Mark and Mary Stevens Neuroimaging & Informatics Institute, Keck School of Medicine, University of Southern California, Marina del Rey, CA, USA.
Xiaoping QuImaging Genetics Center, Mark and Mary Stevens Neuroimaging & Informatics Institute, Keck School of Medicine, University of Southern California, Marina del Rey, CA, USA.
Rachel K JonasDepartment of Psychiatry and Biobehavioral Sciences, Semel Institute for Neuroscience and Human Behavior, University of California, Los Angeles, Los Angeles, CA, USA.
Therese van AmelsvoortDepartment of Psychiatry & Neuropsychology, Maastricht University, Maastricht, Netherlands.
Geor BakkerDepartment of Psychiatry & Neuropsychology, Maastricht University, Maastricht, Netherlands.
Wendy R KatesDepartment of Psychiatry and Behavioral Sciences, State University of New York, Upstate Medical University, Syracuse, NY, USA.
Kevin M AntshelDepartment of Psychology, Syracuse University, Syracuse, NY, USA.
Wanda FremontDepartment of Psychiatry and Behavioral Sciences, State University of New York, Upstate Medical University, Syracuse, NY, USA.
Linda E CampbellPRC GrowUpWell, University of Newcastle, Newcastle, Australia.
Kathryn L McCabeSchool of Psychology, University of Newcastle, Newcastle, Australia.
Eileen DalySackler Institute for Translational Neurodevelopment and Department of Forensic and Neurodevelopmental Sciences, King's College London, Institute of Psychiatry, Psychology & Neuroscience, London, UK.
Maria GudbrandsenSackler Institute for Translational Neurodevelopment and Department of Forensic and Neurodevelopmental Sciences, King's College London, Institute of Psychiatry, Psychology & Neuroscience, London, UK.
Clodagh M MurphySackler Institute for Translational Neurodevelopment and Department of Forensic and Neurodevelopmental Sciences, King's College London, Institute of Psychiatry, Psychology & Neuroscience, London, UK.
Declan MurphySackler Institute for Translational Neurodevelopment and Department of Forensic and Neurodevelopmental Sciences, King's College London, Institute of Psychiatry, Psychology & Neuroscience, London, UK.
Michael CraigSackler Institute for Translational Neurodevelopment and Department of Forensic and Neurodevelopmental Sciences, King's College London, Institute of Psychiatry, Psychology & Neuroscience, London, UK.
Jacob VorstmanHospital for Sick Children, Toronto, ON, Canada.
Ania FiksinskiHospital for Sick Children, Toronto, ON, Canada.
Sanne KoopsDepartment of Psychiatry, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, The Netherlands.
Kosha RuparelDepartment of Psychiatry, University of Pennsylvania, and the Lifespan Brain Institute, Penn Medicine and the Children's Hospital of Philadelphia, Philadelphia, PA, USA.
David R RoalfDepartment of Psychiatry, University of Pennsylvania, and the Lifespan Brain Institute, Penn Medicine and the Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Raquel E GurDepartment of Radiology, Division of Neuroradiology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
J Eric SchmittDepartment of Radiology, Division of Neuroradiology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
Tony J SimonUC Davis MIND Institute and Department of Psychiatry and Behavioral Sciences, Davis, CA, USA.
Naomi J Goodrich-HunsakerUC Davis MIND Institute and Department of Psychiatry and Behavioral Sciences, Davis, CA, USA.
Courtney A DurdleUC Davis MIND Institute and Department of Psychiatry and Behavioral Sciences, Davis, CA, USA.
Anne S BassettClinical Genetics Research Program, Centre for Addiction and Mental Health, Toronto, Ontario, Canada.
Eva W C ChowClinical Genetics Research Program, Centre for Addiction and Mental Health, Toronto, Ontario, Canada.
Nancy J ButcherHospital for Sick Children, Toronto, ON, Canada.
Fidel Vila-RodriguezDepartment of Psychiatry, University of British Columbia, Vancouver, British Columbia, Canada.
Joanne DohertyMRC Centre for Neuropsychiatric Genetics and Genomics, Division of Psychological Medicine and Clinical Neurosciences, Cardiff University, Cardiff, UK.
Adam CunninghamMRC Centre for Neuropsychiatric Genetics and Genomics, Division of Psychological Medicine and Clinical Neurosciences, Cardiff University, Cardiff, UK.ORCID http://orcid.org/0000-0002-9791-7813
Marianne B M van den BreeMRC Centre for Neuropsychiatric Genetics and Genomics, Division of Psychological Medicine and Clinical Neurosciences, Cardiff University, Cardiff, UK.
David E J LindenMRC Centre for Neuropsychiatric Genetics and Genomics, Division of Psychological Medicine and Clinical Neurosciences, Cardiff University, Cardiff, UK.
Hayley MossMRC Centre for Neuropsychiatric Genetics and Genomics, Division of Psychological Medicine and Clinical Neurosciences, Cardiff University, Cardiff, UK.
Michael J OwenMRC Centre for Neuropsychiatric Genetics and Genomics, Division of Psychological Medicine and Clinical Neurosciences, Cardiff University, Cardiff, UK.ORCID http://orcid.org/0000-0003-4798-0862
Kieran C MurphyDepartment of Psychiatry, Royal College of Surgeons in Ireland, Dublin, Ireland.
Donna M McDonald-McGinnDivision of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
Beverly EmanuelDepartment of Pediatrics, The Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA.
Theo G M van ErpDepartment of Psychiatry and Human Behavior, University of California, Irvine, Irvine, CA, USA.ORCID http://orcid.org/0000-0002-2465-2797
Jessica A TurnerImaging Genetics and Neuroinformatics Lab, Department of Psychology, Georgia State University, Atlanta, GA, USA.ORCID http://orcid.org/0000-0003-0076-8434
Paul M ThompsonImaging Genetics Center, Mark and Mary Stevens Neuroimaging & Informatics Institute, Keck School of Medicine, University of Southern California, Marina del Rey, CA, USA.
Carrie E BeardenDepartment of Psychiatry and Biobehavioral Sciences, Semel Institute for Neuroscience and Human Behavior, University of California, Los Angeles, Los Angeles, CA, USA. CBearden@mednet.ucla.edu.
University of California, Los Angeles · USCardiff University · GBChildren's Hospital of Philadelphia · USKing's College London · GBUniversity of Southern California · USCentre for Addiction and Mental Health · CAMaastricht University · NLSUNY Upstate Medical University · USUniversity Health Network · CAUniversity of California, Davis · USUniversity of Newcastle Australia · AUBrigham Young University · USMind Research Network · USRoyal College of Surgeons in Ireland · IESyracuse University · USUniversity Medical Center Utrecht · NLUniversity of British Columbia · CAUniversity of California, Irvine · USUniversity of Pittsburgh · USUniversity of Toronto · CA
Funding
Neurodevelopmental Genomics: Trajectories of Complex PhenotypesRC2MH089983 · NIMH · UNIVERSITY OF PENNSYLVANIA · PI GUR, RAQUEL E · 2009 to 2011
$14.3MTraining U54EB020403 · NIBIB · UNIVERSITY OF SOUTHERN CALIFORNIA · PI THOMPSON, PAUL M · 2014 to 2018
$10.1MThe Intellectual and Developmental Disabilities Research Center (IDDRC) at CHOP/PennP50HD105354 · NICHD · CHILDREN'S HOSP OF PHILADELPHIA · PI Michael Byrne Robinson · 2021 to 2026
$9.2MInterdisciplinary Training for Autism Researchers(RMI)T32MH073124 · NIMH · UNIVERSITY OF CALIFORNIA DAVIS · PI Stephen Charles Noctor, Christine Wu Nordahl · 2004 to 2026
$6.8M1/2-Brain-Behavior and Genetic Studies of the 22q11DSU01MH087626 · NIMH · UNIVERSITY OF PENNSYLVANIA · PI GUR, RAQUEL E · 2010 to 2014
$6.5MUCLA Center for Translational Research in Neurodevelopment: UC-TRaNU54HD087101 · NICHD · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI MCCRACKEN, JAMES T. · 2016 to 2020
$6.5MThe Intellectual and Developmental Disabilities Research Center at CHOP/PennU54HD086984 · NICHD · CHILDREN'S HOSP OF PHILADELPHIA · PI ROBERTS, TIMOTHY P · 2016 to 2020
$6.3MNeurodevelopment and Psychosis in the 22q11.2 Deletion SyndromeR01MH085953 · NIMH · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI BEARDEN, CARRIE E · 2010 to 2020
$6.2MIntegrative Molecular and Phenotype Analysis of 22q11.2 Deletion SyndromeR01MH100900 · NIMH · STANFORD UNIVERSITY · PI HALLMAYER, JOACHIM F · 2013 to 2017
$4.8M2/2 Brain, Behavior and Genetic Studies of the 22q11 Deletion StudiesU01MH087636 · NIMH · CHILDREN'S HOSP OF PHILADELPHIA · PI EMANUEL, BEVERLY S · 2010 to 2014
$4.6MNeurodevelopment and Psychosis in the 22q11.2 Copy Number VariantsR37MH085953 · NIMH · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI CARRIE E BEARDEN · 2023 to 2026
$2.9M1/5 International Consortium on Brain and Behavior in 22q11.2 Deletion SyndromeU01MH101719 · NIMH · UNIVERSITY OF PENNSYLVANIA · PI GUR, RAQUEL E · 2013 to 2016
$2.8MMedical Research Council MR/L010305/1Medical Research Council MR/N026063/1NIBIB NIH HHS U54 EB020403NICHD NIH HHS P50 HD105354NICHD NIH HHS U54 HD086984NICHD NIH HHS U54 HD087101NIMH NIH HHS K01 MH112774NIMH NIH HHS R01 MH085953NIMH NIH HHS R01 MH100900NIMH NIH HHS R37 MH085953NIMH NIH HHS RC2 MH089983NIMH NIH HHS T32 MH073526NIMH NIH HHS U01 MH087626NIMH NIH HHS U01 MH087636NIMH NIH HHS U01 MH101719NIMH NIH HHS U01 MH101723NIMH NIH HHS U01 MH101724Wellcome TrustWellcome Trust 100202/Z/12/ZWellcome Trust 102003/Z/13/Z
Abstract
The 22q11.2 deletion (22q11DS) is a common chromosomal microdeletion and a potent risk factor for psychotic illness. Prior studies reported widespread cortical changes in 22q11DS, but were generally underpowered to characterize neuroanatomic abnormalities associated with psychosis in 22q11DS, and/or neuroanatomic effects of variability in deletion size. To address these issues, we developed the ENIGMA (Enhancing Neuro Imaging Genetics Through Meta-Analysis) 22q11.2 Working Group, representing the largest analysis of brain structural alterations in 22q11DS to date. The imaging data were collected from 10 centers worldwide, including 474 subjects with 22q11DS (age = 18.2 ± 8.6; 46.9% female) and 315 typically developing, matched controls (age = 18.0 ± 9.2; 45.9% female). Compared to controls, 22q11DS individuals showed thicker cortical gray matter overall (left/right hemispheres: Cohen's d = 0.61/0.65), but focal thickness reduction in temporal and cingulate cortex. Cortical surface area (SA), however, showed pervasive reductions in 22q11DS (left/right hemispheres: d = -1.01/-1.02). 22q11DS cases vs. controls were classified with 93.8% accuracy based on these neuroanatomic patterns. Comparison of 22q11DS-psychosis to idiopathic schizophrenia (ENIGMA-Schizophrenia Working Group) revealed significant convergence of affected brain regions, particularly in fronto-temporal cortex. Finally, cortical SA was significantly greater in 22q11DS cases with smaller 1.5 Mb deletions, relative to those with typical 3 Mb deletions. We found a robust neuroanatomic signature of 22q11DS, and the first evidence that deletion size impacts brain structure. Psychotic illness in this highly penetrant deletion was associated with similar neuroanatomic abnormalities to idiopathic schizophrenia. These consistent cross-site findings highlight the homogeneity of this single genetic etiology, and support the suitability of 22q11DS as a biological model of schizophrenia.
Indexed as
Chromosome DeletionAdolescentAdultCerebral CortexDiGeorge SyndromeFemaleGray MatterHumansMagnetic Resonance ImagingMalePsychotic DisordersYoung Adult
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