ArticleMolecular psychiatry2020
Altered white matter microstructure in 22q11.2 deletion syndrome: a multisite diffusion tensor imaging study.
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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 50 papers, 2 of them syntheses that pooled it.
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50citing papers in PubMed, 2 pooled it
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50 citing papers in PubMed, 2 syntheses or guidelines pooled it, 76 citations in OpenAlex.
- 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
- 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
- Gene dosage effects of 22q11.2 copy number variants on in-vivo measures of white matter axonal density and dispersion.Molecular psychiatry · 2026Article
- Lifespan normative modeling of brain microstructure.Nature communications · 2026Article
- Tbx1 heterozygosity in the oligodendrocyte lineage shifts myelinated axon composition in the mouse fimbria without behavioral impairments.Molecular brain · 2026Article
- SPECTRA: Spatial Inference for Tractometry Toward Precision Mapping of White Matter Microstructure.bioRxiv : the preprint server for biology · 2026Article
- Developmental Alterations in the Diffusion Tensor Imaging Analysis Along the Perivascular Space Index Suggest Possible Glymphatic-Related Mechanisms Underlying Excitation/Inhibition Imbalance and Psychosis Vulnerability in 22q11.2 Deletion Syndrome.Biological psychiatry global open science · 2026Article
- A frontotemporal free water signature associated to interleukin-8 and cognitive impairment in schizophrenia with comorbidity of metabolic syndrome.Brain, behavior, & immunity - health · 2026Article
- Article
- Evaluating Transferability of ComBat Harmonization of Diffusion Tensor Magnetic Resonance Imaging Data.Annals of biomedical engineering · 2026Article
- Lifespan Normative Modeling of Brain Microstructure.bioRxiv : the preprint server for biology · 2025Article
- Lifespan reference curves for harmonizing multi-site regional brain white matter metrics from diffusion MRI.Scientific data · 2025Article
- Highly demarcated structural alterations in the brain and impaired social incentive learning in Tbx1 heterozygous mice.Molecular psychiatry · 2025Article
- An exploratory fetal MRI study examining the impact of 22q11.2 microdeletion syndrome on early brain growth.Journal of neurodevelopmental disorders · 2025Article
- Robust and replicable functional brain signatures of 22q11.2 deletion syndrome and associated psychosis: a deep neural network-based multi-cohort study.Molecular psychiatry · 2024Article
- Pervasive alterations of intra-axonal volume and network organization in young children with a 16p11.2 deletion.Translational psychiatry · 2024Article
- Source-based morphometry reveals structural brain pattern abnormalities in 22q11.2 deletion syndrome.Human brain mapping · 2024Article
- In vivo evidence of microstructural hypo-connectivity of brain white matter in 22q11.2 deletion syndrome.Molecular psychiatry · 2023Article
- Multi-spectral diffusion MRI mega-analysis in genetic generalized epilepsy: Relation to outcomes.NeuroImage. Clinical · 2023Article
- A Comprehensive Analysis of Cerebellar Volumes in the 22q11.2 Deletion Syndrome.Biological psychiatry. Cognitive neuroscience and neuroimaging · 2023Article
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Authors and funding
52 authors at 20 institutions in 7 countries.
Julio E Villalón-ReinaImaging Genetics Center, Mark and Mary Stevens Neuroimaging & Informatics Institute, Keck School of Medicine of the University of Southern California, Marina del Rey, CA, USA.
Kenia MartínezDepartment of Child and Adolescent Psychiatry, Hospital General Universitario Gregorio Marañón, Universidad Complutense, School of Medicine, IiSGM, Madrid, Spain.
Xiaoping QuImaging Genetics Center, Mark and Mary Stevens Neuroimaging & Informatics Institute, Keck School of Medicine of the University of Southern California, Marina del Rey, CA, USA.
Christopher R K ChingImaging Genetics Center, Mark and Mary Stevens Neuroimaging & Informatics Institute, Keck School of Medicine of the University of Southern California, Marina del Rey, CA, USA.
Talia M NirImaging Genetics Center, Mark and Mary Stevens Neuroimaging & Informatics Institute, Keck School of Medicine of the University of Southern California, Marina del Rey, CA, USA.
Deydeep KothapalliImaging Genetics Center, Mark and Mary Stevens Neuroimaging & Informatics Institute, Keck School of Medicine of the University of Southern California, Marina del Rey, CA, USA.
Conor CorbinImaging Genetics Center, Mark and Mary Stevens Neuroimaging & Informatics Institute, Keck School of Medicine of the University of Southern California, Marina del Rey, CA, USA.
Daqiang SunDepartment of Psychiatry and Biobehavioral Sciences, Semel Institute for Neuroscience and Human Behavior, University of California at Los Angeles, Los Angeles, CA, USA.
Amy LinDepartment of Psychiatry and Biobehavioral Sciences, Semel Institute for Neuroscience and Human Behavior, University of California at Los Angeles, Los Angeles, CA, USA.
Jennifer K ForsythDepartment of Psychiatry and Biobehavioral Sciences, Semel Institute for Neuroscience and Human Behavior, University of California at Los Angeles, Los Angeles, CA, USA.
Leila KushanDepartment of Psychiatry and Biobehavioral Sciences, Semel Institute for Neuroscience and Human Behavior, University of California at Los Angeles, Los Angeles, CA, USA.
Ariana VajdiDepartment of Psychiatry and Biobehavioral Sciences, Semel Institute for Neuroscience and Human Behavior, University of California at 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 at Los Angeles, Los Angeles, CA, USA.
Rachel K JonasDepartment of Psychiatry and Biobehavioral Sciences, Semel Institute for Neuroscience and Human Behavior, University of California at 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 CampbellPriority Research Centre 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.ORCID http://orcid.org/0000-0002-0464-2065
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.ORCID http://orcid.org/0000-0002-6664-7451
Michael CraigSackler Institute for Translational Neurodevelopment and Department of Forensic and Neurodevelopmental Sciences, King's College London, Institute of Psychiatry, Psychology & Neuroscience, London, UK.
Beverly EmanuelDivision of Human Genetics, Children's Hospital of Philadelphia, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
Donna M McDonald-McGinnDivision of Human Genetics, Children's Hospital of Philadelphia, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
Jacob A S VorstmanDepartment of Psychiatry, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, The Netherlands.
Ania M FiksinskiDepartment of Psychiatry, Rudolf Magnus Institute of Neuroscience, University Medical Center Utrecht, Utrecht, The Netherlands.ORCID http://orcid.org/0000-0002-8169-7721
Sanne KoopsDepartment of Psychiatry, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, The Netherlands.
Kosha RuparelDepartment of Psychiatry, University of Pennsylvania, Philadelphia, PA, USA.
David RoalfDepartment of Psychiatry, University of Pennsylvania, Philadelphia, PA, USA.
Raquel E GurDepartment of Psychiatry, Perelman School of Medicine, University of Pennsylvania and Children's Hospital of Philadelphia, Philadelphia, PA, USA.
J Eric SchmittDepartments of Radiology and Psychiatry, 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.
Joanne L DohertyMRC Centre for Neuropsychiatric Genetics and Genomics, Division of Psychological Medicine and Clinical Neurosciences, Cardiff University, Cardiff, Wales, UK.
Adam C CunninghamMRC Centre for Neuropsychiatric Genetics and Genomics, Division of Psychological Medicine and Clinical Neurosciences, Cardiff University, Cardiff, Wales, UK.ORCID http://orcid.org/0000-0002-9791-7813
Marianne van den BreeMRC Centre for Neuropsychiatric Genetics and Genomics, Division of Psychological Medicine and Clinical Neurosciences, Cardiff University, Cardiff, Wales, UK.
David E J LindenMRC Centre for Neuropsychiatric Genetics and Genomics, Division of Psychological Medicine and Clinical Neurosciences, Cardiff University, Cardiff, Wales, UK.
Michael OwenMRC Centre for Neuropsychiatric Genetics and Genomics, Division of Psychological Medicine and Clinical Neurosciences, Cardiff University, Cardiff, Wales, UK.ORCID http://orcid.org/0000-0003-4798-0862
Hayley MossMRC Centre for Neuropsychiatric Genetics and Genomics, Division of Psychological Medicine and Clinical Neurosciences, Cardiff University, Cardiff, Wales, UK.
Sinead KellyDepartment of Psychiatry, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, MA, USA.
Gary DonohoeCentre for Neuroimaging and Cognitive Genomics (NICOG), Clinical Neuroimaging Laboratory, NCBES Galway Neuroscience Centre, National University of Ireland Galway, Galway, Ireland.
Kieran C MurphyDepartment of Psychiatry, Royal College of Surgeons in Ireland, Dublin, Ireland.
Celso ArangoDepartment of Child and Adolescent Psychiatry, Hospital General Universitario Gregorio Marañón, Universidad Complutense, School of Medicine, IiSGM, Madrid, Spain.
Neda JahanshadImaging Genetics Center, Mark and Mary Stevens Neuroimaging & Informatics Institute, Keck School of Medicine of the University of Southern California, Marina del Rey, CA, USA. neda.jahanshad@usc.edu.ORCID http://orcid.org/0000-0003-4401-8950
Paul M ThompsonImaging Genetics Center, Mark and Mary Stevens Neuroimaging & Informatics Institute, Keck School of Medicine of the 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 at Los Angeles, Los Angeles, CA, USA. CBearden@mednet.ucla.edu.ORCID http://orcid.org/0000-0002-8516-923X
University of California, Los Angeles · USUniversity of Southern California · USCardiff University · GBKing's College London · GBChildren's Hospital of Philadelphia · USUniversity of Pennsylvania · USHospital General Universitario Gregorio Marañón · ESMaastricht University · NLSUNY Upstate Medical University · USUniversity of California, Davis · USUniversity of Newcastle Australia · AUBeth Israel Deaconess Medical Center · USBrigham Young University · USOllscoil na Gaillimhe – University of Galway · IERoyal College of Surgeons in Ireland · IESyracuse University · USUniversity Health Network · CAUniversity Medical Center Utrecht · NLUniversity of Pittsburgh · USUniversity of Toronto · CA
Funding
Neurodevelopmental Genomics: Trajectories of Complex PhenotypesRC2MH089983 · NIMH · UNIVERSITY OF PENNSYLVANIA · PI GUR, RAQUEL E · 2009 to 2011
$14.3MTR&D3: Intrinsic Surface MappingP41EB015922 · NIBIB · UNIVERSITY OF SOUTHERN CALIFORNIA · PI TOGA, ARTHUR W · 2012 to 2022
$14.1MTraining U54EB020403 · NIBIB · UNIVERSITY OF SOUTHERN CALIFORNIA · PI THOMPSON, PAUL M · 2014 to 2018
$10.1MResearch Project: Pathologic Significance of Maternal AutoantibodiesP50HD103526 · NICHD · UNIVERSITY OF CALIFORNIA AT DAVIS · PI LEONARD J. ABBEDUTO, Melissa Dawn Bauman · 2020 to 2026
$9.7MRodent Behavior CoreU54HD079125 · NICHD · UNIVERSITY OF CALIFORNIA AT DAVIS · PI VAN DE WATER, JUDY A. · 2013 to 2019
$8.5MBiomarkers for Psychosis in Velocardiofacial SyndromeR01MH064824 · NIMH · UPSTATE MEDICAL UNIVERSITY · PI KATES, WENDY · 2002 to 2015
$7.3M1/2-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
$6.5MNeurodevelopment 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
$2.9MMedical Research Council MR/L010305/1Medical Research Council MR/N026063/1NIA NIH HHS T32 AG058507NIBIB NIH HHS P41 EB015922NIBIB NIH HHS U54 EB020403NICHD NIH HHS P50 HD103526NICHD NIH HHS U54 HD079125NICHD NIH HHS U54 HD087101NIMH NIH HHS K01 MH112774NIMH NIH HHS R01 MH064824NIMH NIH HHS R01 MH085953NIMH NIH HHS R01 MH100900NIMH NIH HHS R01 MH116147NIMH NIH HHS R01 MH117601NIMH NIH HHS R21 MH116473NIMH 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 MH101722NIMH NIH HHS U01 MH101723NIMH NIH HHS U01 MH101724NIMH NIH HHS U01 MH119737NIMH NIH HHS U01 MH119758Wellcome TrustWellcome Trust 100202/Z/12/ZWellcome Trust 102003/Z/13/Z
Abstract
22q11.2 deletion syndrome (22q11DS)-a neurodevelopmental condition caused by a hemizygous deletion on chromosome 22-is associated with an elevated risk of psychosis and other developmental brain disorders. Prior single-site diffusion magnetic resonance imaging (dMRI) studies have reported altered white matter (WM) microstructure in 22q11DS, but small samples and variable methods have led to contradictory results. Here we present the largest study ever conducted of dMRI-derived measures of WM microstructure in 22q11DS (334 22q11.2 deletion carriers and 260 healthy age- and sex-matched controls; age range 6-52 years). Using harmonization protocols developed by the ENIGMA-DTI working group, we identified widespread reductions in mean, axial and radial diffusivities in 22q11DS, most pronounced in regions with major cortico-cortical and cortico-thalamic fibers: the corona radiata, corpus callosum, superior longitudinal fasciculus, posterior thalamic radiations, and sagittal stratum (Cohen's d's ranging from -0.9 to -1.3). Only the posterior limb of the internal capsule (IC), comprised primarily of corticofugal fibers, showed higher axial diffusivity in 22q11DS. 22q11DS patients showed higher mean fractional anisotropy (FA) in callosal and projection fibers (IC and corona radiata) relative to controls, but lower FA than controls in regions with predominantly association fibers. Psychotic illness in 22q11DS was associated with more substantial diffusivity reductions in multiple regions. Overall, these findings indicate large effects of the 22q11.2 deletion on WM microstructure, especially in major cortico-cortical connections. Taken together with findings from animal models, this pattern of abnormalities may reflect disrupted neurogenesis of projection neurons in outer cortical layers.
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Diffusion Magnetic Resonance ImagingAdolescentAdultAnisotropyChildDiGeorge SyndromeFemaleHumansMaleMiddle AgedWhite MatterYoung Adult
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