ArticleBiological psychiatry2024
Beyond the Global Brain Differences: Intraindividual Variability Differences in 1q21.1 Distal and 15q11.2 BP1-BP2 Deletion Carriers.
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Article in Biological psychiatry, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
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3citing papers in PubMed
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3 citing papers in PubMed, 6 citations in OpenAlex.
- White matter microstructure differences between 15q11.2 copy number variation carriers and non-carriers in mid-to-late life.Translational psychiatry · 2026Article
- A review on the relationship between the distal 1q21.1 microdeletion and schizophrenia.Frontiers in genetics · 2025Review
- Population Neuroscience: Principles and Advances.Current topics in behavioral neurosciences · 2024Review
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Authors and funding
120 authors at 20 institutions in 15 countries.
Rune BoenDepartment of Medical Genetics, Oslo University Hospital, Oslo, Norway; Norwegian Centre for Mental Disorders Research (NORMENT), Division of Mental Health and Addiction, Oslo University Hospital and Institute of Clinical Medicine, University of Oslo, Oslo, Norway. Electronic address: boenrune@gmail.com.
Tobias KaufmannNorwegian Centre for Mental Disorders Research (NORMENT), Division of Mental Health and Addiction, Oslo University Hospital and Institute of Clinical Medicine, University of Oslo, Oslo, Norway; Department of Psychiatry and Psychotherapy, Tübingen Center for Mental Health, University of Tübingen, Germany; German Center for Mental Health (DZPG), partner site Tübingen, Tübingen, Germany.
Dennis van der MeerNorwegian Centre for Mental Disorders Research (NORMENT), Division of Mental Health and Addiction, Oslo University Hospital and Institute of Clinical Medicine, University of Oslo, Oslo, Norway; School of Mental Health and Neuroscience, Faculty of Health, Medicine and Life Sciences, Maastricht University, Maastricht, Netherlands.
Oleksandr FreiNorwegian Centre for Mental Disorders Research (NORMENT), Division of Mental Health and Addiction, Oslo University Hospital and Institute of Clinical Medicine, University of Oslo, Oslo, Norway; Centre for Bioinformatics, Department of Informatics, University of Oslo, Oslo, Norway.
Ingrid AgartzNorwegian Centre for Mental Disorders Research, Institute of Clinical Medicine, University of Oslo, Oslo, Norway; Department of Clinical Research, Diakonhjemmet Hospital, Oslo, Norway; Centre for Psychiatry Research, Department of Clinical Neuroscience, Karolinska Institutet and Stockholm Health Care Services, Stockholm, Sweden.
David AmesUniversity of Melbourne Academic Unit for Psychiatry of Old Age, St George's Hospital, Kew, Victoria, Australia; National Ageing Research Institute, Parkville, Victoria, Australia.
Micael AnderssonDepartment of Integrative Medical Biology and Umeå Center for Functional Brain Imaging, Umeå University, Umeå, Sweden.
Nicola J ArmstrongDepartment of Mathematics and Statistics, Curtin University, Perth, Western Australia, Australia.
Eric ArtigesInstitut National de la Santé et de la Recherche Médicale U1299, École Normale Supérieure Paris-Saclay, Université Paris Saclay, Gif-sur-Yvette, France; Établissement public de santé (EPS) Barthélemy Durand, Etampes, France.
Joshua R AtkinsSchool of Biomedical Sciences and Pharmacy, College of Medicine, Health and Wellbeing, University of Newcastle, Callaghan, New South Wales, Australia; Precision Medicine Research Program, Hunter Medical Research Institute, Newcastle, New South Wales, Australia; Cancer Epidemiology Unit, Nuffield Department of Population Health, University of Oxford, Oxford, UK.
Jochen BauerUniversity Clinic for Radiology, University of Münster, Münster, Germany.
Francesco BenedettiPsychiatry and Clinical Psychobiology Unit, Division of Neuroscience, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) San Raffaele Scientific Institute, Milan, Italy; Division of Neuroscience, Psychiatry and Clinical Psychobiology Unit, Istituto di Ricovero e Cura a Carattere Scientifico San Raffaele Scientific Institute, Milan, Italy.
Dorret I BoomsmaDepartment of Biological Psychology, Vrije Universiteit Amsterdam, Amsterdam, the Netherlands.
Henry BrodatyCentre for Healthy Brain Ageing, School of Clinical Medicine, University of New South Wales, Sydney, New South Wales, Australia.
Katharina BroschDepartment of Psychiatry and Psychotherapy, Philipps-University Marburg, Marburg, Germany.
Randy L BucknerDepartment of Psychology and Center for Brain Science, Harvard University, Cambridge, Massachusetts; Department of Psychiatry, Massachusetts General Hospital, Boston, Massachusetts.
Murray J CairnsSchool of Biomedical Sciences and Pharmacy, College of Medicine, Health and Wellbeing, University of Newcastle, Callaghan, New South Wales, Australia; Precision Medicine Research Program, Hunter Medical Research Institute, Newcastle, New South Wales, Australia.
Vince CalhounTri-institutional Center for Translational Research in Neuroimaging and Data Science, Georgia State University/Georgia Institute of Technology/Emory University, Atlanta, Georgia.
Svenja CaspersInstitute of Neuroscience and Medicine (INM-1), Research Centre Jülich, Jülich, Germany; Institute for Anatomy I, Medical Faculty & University Hospital Düsseldorf, Heinrich Heine University Düsseldorf, Düsseldorf, Germany.
Sven CichonInstitute of Neuroscience and Medicine (INM-1), Research Centre Jülich, Jülich, Germany; Department of Biomedicine, University of Basel, Basel, Switzerland; University Hospital Basel, Institute of Medical Genetics and Pathology, Basel, Switzerland.
Aiden P CorvinDepartment of Psychiatry, Trinity College Dublin, Dublin, Ireland.
Benedicto Crespo-FacorroInstituto de Biomedicina de Sevilla, Hospital Universitario Virgen del Rocío/Centro superior de investigaciones científicas (CSIC), Sevilla, Spain; Centro de Investigación Biomédica en Red Salud Mental, Sevilla, Spain; Department of Psychiatry, University of Sevilla, Sevilla, Spain.
Udo DannlowskiInstitute for Translational Psychiatry, University of Münster, Münster, Germany.
Friederike S DavidInstitute of Human Genetics, University of Bonn, School of Medicine and University Hospital Bonn, Bonn, Germany.
Eco J C de GeusDepartment of Biological Psychology, Vrije Universiteit Amsterdam, Amsterdam, the Netherlands.
Greig I de ZubicaraySchool of Psychology and Counselling, Queensland University of Technology, Brisbane, Queensland, Australia.
Sylvane DesrivièresSocial Genetic and Developmental Psychiatry Centre, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, United Kingdom.
Joanne L DohertyCentre for Neuropsychiatric Genetics and Genomics, Cardiff University, Cardiff, United Kingdom; Cardiff University Brain Research Imaging Centre, School of Psychology, Cardiff University, Cardiff, United Kingdom.
Gary DonohoeSchool of Psychology and Center for Neuroimaging, Cognition and Genomics, University of Galway, Galway, Ireland.
Stefan EhrlichTranslational Developmental Neuroscience Section, Division of Psychological and Social Medicine and Developmental Neurosciences, Faculty of Medicine, Technische Universität Dresden, Dresden, Germany.
Else EisingLanguage and Genetics Department, Max Planck Institute for Psycholinguistics, Nijmegen, the Netherlands.
Thomas EspesethDepartment of Psychology, University of Oslo, Oslo, Norway; Department of Psychology, Oslo New University College, Oslo, Norway.
Simon E FisherLanguage and Genetics Department, Max Planck Institute for Psycholinguistics, Nijmegen, the Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University, Nijmegen, the Netherlands.
Andreas J ForstnerInstitute of Neuroscience and Medicine (INM-1), Research Centre Jülich, Jülich, Germany; Institute of Human Genetics, University of Bonn, School of Medicine and University Hospital Bonn, Bonn, Germany.
Lidia Fortaner-UyàPsychiatry and Clinical Psychobiology Unit, Division of Neuroscience, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) San Raffaele Scientific Institute, Milan, Italy; Division of Neuroscience, Psychiatry and Clinical Psychobiology Unit, Istituto di Ricovero e Cura a Carattere Scientifico San Raffaele Scientific Institute, Milan, Italy.
Vincent FrouinNeurospin, Commissariat a l'Energie Atomique (CEA), Université Paris-Saclay, Gif-sur-Yvette, France.
Masaki FukunagaSection of Brain Function Information, National Institute for Physiological Sciences, Okazaki, Japan.
Tian GePsychiatric and Neurodevelopmental Genetics Unit, Center for Genomic Medicine, Massachusetts General Hospital, Boston, Massachusetts; Department of Psychiatry, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts.
David C GlahnDepartment of Psychiatry and Behavioral Sciences, Boston Children's Hospital, Boston, Massachusetts; Department of Psychiatry, Harvard Medical School, Boston, Massachusetts.
Janik GoltermannInstitute for Translational Psychiatry, University of Münster, Münster, Germany.
Hans J GrabeDepartment of Psychiatry and Psychotherapy, University Medicine Greifswald, Greifswald, Germany.
Melissa J GreenDiscipline of Psychiatry and Mental Health, School of Clinical Medicine, University of New South Wales, Sydney, New South Wales, Australia; Neuroscience Research Australia, Sydney, New South Wales, Australia.
Nynke A GroenewoldDepartment of Psychiatry and Mental Health, Neuroscience Institute, University of Cape Town, Cape Town, South Africa.
Dominik GrotegerdInstitute for Translational Psychiatry, University of Münster, Münster, Germany.
Gøril Rolfseng GrøntvedtDepartment of Neuromedicine and Movement Science, Faculty of Medicine and Health Sciences, Norwegian University of Science and Technology, Trondheim, Norway; Department of Neurology and Clinical Neurophysiology, University Hospital of Trondheim, Trondheim, Norway.
Tim HahnInstitute for Translational Psychiatry, University of Münster, Münster, Germany.
Ryota HashimotoDepartment of Pathology of Mental Diseases, National Institute of Mental Health, National Center of Neurology and Psychiatry, Kodaira, Tokyo, Japan.
Jayne Y Hehir-KwaPrincess Máxima Center for Pediatric Oncology, Utrecht, the Netherlands.
Frans A HenskensSchool of Medicine and Public Health, University of Newcastle, Newcastle, New South Wales, Australia; Priority Research Centre for Health Behaviour, University of Newcastle, Newcastle, New South Wales, Australia.
Avram J HolmesDepartment of Psychiatry, Rutgers University, New Brunswick, New Jersey; Brain Health Institute, Rutgers University, Piscataway, New Jersey.
Asta K HåbergDepartment of Neuromedicine and Movement Science, Faculty of Medicine and Health Sciences, Norwegian University of Science and Technology, Trondheim, Norway; Department of Radiology and Nuclear Medicine, St. Olav's Hospital, Trondheim, Norway.
Jan HaavikDepartment of Biomedicine, University of Bergen, Bergen, Norway; Division of Psychiatry, Haukeland University Hospital, Bergen, Norway.
Sebastien JacquemontSainte Justine Hospital Research Center, Montreal, Quebec, Canada; Department of Pediatrics, University of Montreal, Montreal, Quebec, Canada.
Andreas JansenDepartment of Psychiatry and Psychotherapy, Philipps-University Marburg, Marburg, Germany; Core-Facility Brainimaging and Department of Psychiatry, Faculty of Medicine, Philipps-University Marburg, Marburg, Germany.
Christiane JockwitzInstitute of Neuroscience and Medicine (INM-1), Research Centre Jülich, Jülich, Germany; Institute for Anatomy I, Medical Faculty & University Hospital Düsseldorf, Heinrich Heine University Düsseldorf, Düsseldorf, Germany.
Erik G JönssonNorwegian Centre for Mental Disorders Research, Institute of Clinical Medicine, University of Oslo, Oslo, Norway; Centre for Psychiatry Research, Department of Clinical Neuroscience, Karolinska Institutet and Stockholm Health Care Services, Stockholm Region, Stockholm, Sweden.
Masataka KikuchiDepartment of Genome Informatics, Graduate School of Medicine, Osaka University, Osaka, Japan; Department of Computational Biology and Medical Sciences, Graduate School of Frontier Science, The University of Tokyo, Chiba, Japan.
Tilo KircherDepartment of Psychiatry and Psychotherapy, Philipps-University Marburg, Marburg, Germany.
Kuldeep KumarSainte Justine Hospital Research Center, Montreal, Quebec, Canada.
Stephanie Le HellardNorwegian Centre for Mental Disorders Research, Department of Clinical Science, University of Bergen, Bergen, Norway; Dr. Einar Martens Research Group for Biological Psychiatry, Center for Medical Genetics and Molecular Medicine, Haukeland University Hospital, Bergen, Norway.
Costin LeuDepartment of Clinical and Experimental Epilepsy, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom; Department of Neurology, McGovern Medical School, UTHealth Houston, Houston, Texas.
David E LindenNeuroscience and Mental Health Innovation Institute, Cardiff University, Cardiff, United Kingdom; School for Mental Health and Neuroscience, Department of Psychiatry and Neuropsychology, Faculty of Health, Medicine and Life Sciences, Maastricht University, Maastricht, the Netherlands.
Jingyu LiuDepartment of Computer Science and Center for Translational Research in Neuroimaging and Data Science, Georgia State University, Atlanta, Georgia.
Robert LoughnanDepartment of Cognitive Science and Population Neuroscience and Genetics Lab, University of California San Diego, La Jolla, California.
Karen A MatherCentre for Healthy Brain Ageing, School of Clinical Medicine, University of New South Wales, Sydney, New South Wales, Australia.
Katie L McMahonSchool of Clinical Sciences, Queensland University of Technology, Brisbane, Queensland, Australia.
Allan F McRaeInstitute for Molecular Bioscience, The University of Queensland, Brisbane, Queensland, Australia.
Sarah E MedlandPsychiatric Genetics, Queensland Institute of Medical Research (QIMR) Berghofer Medical Research Institute, Brisbane, Queensland, Australia; University of Queensland, Brisbane, Queensland, Australia; Queensland University of Technology, Brisbane, Queensland, Australia.
Susanne MeinertInstitute for Translational Psychiatry, University of Münster, Münster, Germany; Institute for Translational Neuroscience, University of Münster, Münster, Germany.
Clara A MoreauImaging Genetics Center, Mark and Mary Stevens Institute for Neuroimaging and Informatics, Keck School of Medicine, University of Southern California, Marina del Rey, California.
Derek W MorrisCentre for Neuroimaging, Cognition and Genomics, School of Biological and Chemical Sciences, University of Galway, Galway, Ireland.
Bryan J MowryQueensland Brain Institute and Queensland Centre for Mental Health Research, University of Queensland, Brisbane, Queensland, Australia.
Thomas W MühleisenInstitute of Neuroscience and Medicine (INM-1), Research Centre Jülich, Jülich, Germany; Institute for Anatomy I, Medical Faculty & University Hospital Düsseldorf, Heinrich Heine University Düsseldorf, Düsseldorf, Germany; Department of Biomedicine, University of Basel, Basel, Switzerland.
Igor NenadićDepartment of Psychiatry and Psychotherapy, Philipps-University Marburg, Marburg, Germany.
Markus M NöthenInstitute of Human Genetics, University of Bonn, School of Medicine and University Hospital Bonn, Bonn, Germany.
Lars NybergDepartments of Radiation Sciences, Integrative Medical Biology and Umeå Center for Functional Brain Imaging, Umeå University, Umeå, Sweden.
Roel A OphoffDepartment of Psychiatry, Erasmus University Medical Center, Rotterdam, the Netherlands; Semel Institute for Neuroscience and Human Behavior, Departments of Psychiatry and Biobehavioral Sciences and Psychology, University of California Los Angeles, Los Angeles, California.
Michael J OwenCentre for Neuropsychiatric Genetics and Genomics, Cardiff University, Cardiff, United Kingdom; Division of Psychological Medicine and Clinical Neurosciences, Cardiff University, Cardiff, United Kingdom.
Christos PantelisMelbourne Neuropsychiatry Centre, Department of Psychiatry, University of Melbourne, Carlton South, Victoria, Australia; Western Centre for Health Research and Education, Sunshine Hospital, St Albans, Victoria, Australia.
Marco PaoliniPsychiatry and Clinical Psychobiology Unit, Division of Neuroscience, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) San Raffaele Scientific Institute, Milan, Italy; Division of Neuroscience, Psychiatry and Clinical Psychobiology Unit, Istituto di Ricovero e Cura a Carattere Scientifico San Raffaele Scientific Institute, Milan, Italy.
Tomas PausDepartments of Psychiatry and Neuroscience, Faculty of Medicine and Sainte Justine Hospital Research Center, University of Montreal, Montreal, Quebec, Canada; Departments of Psychiatry and Psychology, University of Toronto, Toronto, Ontario, Canada.
Zdenka PausovaThe Hospital for Sick Children, Toronto, Ontario, Canada; Department of Physiology, University of Toronto, Toronto, Ontario, Canada.
Karin PerssonDepartment of Geriatric Medicine, Oslo University Hospital, Oslo, Norway; Norwegian National Centre for Ageing and Health, Vestfold Hospital Trust, Tønsberg, Norway.
Yann QuidéNeuroscience Research Australia, Sydney, New South Wales, Australia; School of Psychology, University of New South Wales, Sydney, New South Wales, Australia.
Tiago Reis MarquesPsychosis Studies, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, United Kingdom.
Perminder S SachdevCentre for Healthy Brain Ageing, School of Clinical Medicine, University of New South Wales, Sydney, New South Wales, Australia; Neuropsychiatric Institute, Prince of Wales Hospital, Sydney, New South Wales, Australia.
Sigrid B SandoDepartment of Neuromedicine and Movement Science, Faculty of Medicine and Health Sciences, Norwegian University of Science and Technology, Trondheim, Norway; Department of Neurology and Clinical Neurophysiology, University Hospital of Trondheim, Trondheim, Norway.
Ulrich SchallHunter Medical Research Institute, Newcastle, New South Wales, Australia.
Rodney J ScottSchool of Biomedical Sciences and Pharmacy, College of Medicine, Health and Wellbeing, University of Newcastle, Callaghan, New South Wales, Australia; Hunter Medical Research Institute, Newcastle, New South Wales, Australia; Division of Molecular Medicine, New South Wales Health Pathology, Newcastle, New South Wales, Australia.
Geir SelbækDepartment of Geriatric Medicine, Oslo University Hospital, Oslo, Norway; Norwegian National Centre for Ageing and Health, Vestfold Hospital Trust, Tønsberg, Norway; Faculty of Medicine, University of Oslo, Oslo, Norway.
Elena ShumskayaDonders Institute for Brain, Cognition and Behaviour, Radboud University, Nijmegen, the Netherlands; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.
Ana I SilvaNeuroscience and Mental Health Innovation Institute, Cardiff University, Cardiff, United Kingdom.
Sanjay M SisodiyaDepartment of Clinical and Experimental Epilepsy, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom; Chalfont Centre for Epilepsy, Chalfont St Peter, United Kingdom.
Frederike SteinDepartment of Psychiatry and Psychotherapy, Philipps-University Marburg, Marburg, Germany.
Dan J SteinSA MRC Unit on Risk and Resilience in Mental Disorders, Department of Psychiatry and Neuroscience Institute, University of Cape Town, Cape Town, South Africa.
Benjamin StraubeDepartment of Psychiatry and Psychotherapy, Philipps-University Marburg, Marburg, Germany.
Fabian StreitDepartment of Genetic Epidemiology in Psychiatry, Central Institute of Mental Health, Medical Faculty Mannheim, University of Heidelberg, Mannheim, Germany.
Lachlan T StrikePsychiatric Genetics, Queensland Institute of Medical Research (QIMR) Berghofer Medical Research Institute, Brisbane, Queensland, Australia; School of Psychology and Counselling, Faculty of Health, Queensland University of Technology, Brisbane, Australia.
Alexander TeumerDepartment of Psychiatry and Psychotherapy, University Medicine Greifswald, Greifswald, Germany; Institute for Community Medicine, University Medicine Greifswald, Greifswald, Germany; German Centre for Cardiovascular Research, Greifswald, Germany.
Lea TeutenbergDepartment of Psychiatry and Psychotherapy, Philipps-University Marburg, Marburg, Germany.
Anbupalam ThalamuthuCentre for Healthy Brain Ageing, School of Clinical Medicine, University of New South Wales, Sydney, New South Wales, Australia.
Paul A TooneySchool of Biomedical Sciences and Pharmacy, College of Medicine, Health and Wellbeing, University of Newcastle, Callaghan, New South Wales, Australia; Hunter Medical Research Institute, Newcastle, New South Wales, Australia.
Diana Tordesillas-GutierrezInstituto de Física de Cantabria UC-CSIC, Santander, Spain; Department of Radiology, Marqués de Valdecilla University Hospital, Valdecilla Biomedical Research Institute, Instituto de Investigación Sanitaria Valdecilla, Santander, Spain.
Julian N TrollorDepartment of Developmental Disability Neuropsychiatry and Centre for Healthy Brain Ageing, School of Clinical Medicine, University of New South Wales, Sydney, New South Wales, Australia.
Dennis van 't EntDepartment of Biological Psychology, Vrije Universiteit Amsterdam, Amsterdam, the Netherlands.
Marianne B M van den BreeInstitute of Psychological Medicine and Clinical Neurosciences and Centre for Neuropsychiatric Genetics and Genomics, Cardiff University, Cardiff, United Kingdom; Institute for Translational Neuroscience, University of Münster, Münster, Germany.
Neeltje E M van HarenDepartment of Child and Adolescent Psychiatry/Psychology, Erasmus University Medical Centre, Rotterdam, the Netherlands; Department of Psychiatry, University Medical Centre Utrecht, Utrecht, the Netherlands.
Javier Vázquez-BourgonCentro de Investigación Biomédica en Red Salud Mental, Sevilla, Spain; Department of Psychiatry, University Hospital Maqués de Valdecilla, Instituto de Investigación Sanitaria Valdecilla, Santander, Spain; Departamento de Medicina y Psiquiatría, Universidad de Cantabria, Santander, Spain.
Henry VölzkeGerman Centre for Cardiovascular Research, Greifswald, Germany; Greifswald University Hospital, Greifswald, Germany.
Wei WenCentre for Healthy Brain Ageing, School of Clinical Medicine, University of New South Wales, Sydney, New South Wales, Australia.
Katharina WittfeldDepartment of Psychiatry and Psychotherapy, University Medicine Greifswald, Greifswald, Germany.
Christopher R K ChingImaging Genetics Center, Mark and Mary Stevens Institute for Neuroimaging and Informatics, Keck School of Medicine, University of Southern California, Marina del Rey, California.
Lars T WestlyeNorwegian Centre for Mental Disorders Research (NORMENT), Division of Mental Health and Addiction, Oslo University Hospital and Institute of Clinical Medicine, University of Oslo, Oslo, Norway; Department of Psychology, University of Oslo, Oslo, Norway; KG Jebsen Centre for Neurodevelopmental Disorders, University of Oslo, Oslo, Norway.
Paul M ThompsonImaging Genetics Center, Mark and Mary Stevens Institute for Neuroimaging and Informatics, Keck School of Medicine, University of Southern California, Marina del Rey, California.
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.
Kaja K SelmerDepartment of Research and Innovation, Division of Clinical Neuroscience, Oslo University Hospital and the University of Oslo, Oslo, Norway.
Dag AlnæsNorwegian Centre for Mental Disorders Research (NORMENT), Division of Mental Health and Addiction, Oslo University Hospital and Institute of Clinical Medicine, University of Oslo, Oslo, Norway; Kristiania University College, Oslo, Norway.
Ole A AndreassenNorwegian Centre for Mental Disorders Research (NORMENT), Division of Mental Health and Addiction, Oslo University Hospital and Institute of Clinical Medicine, University of Oslo, Oslo, Norway; Norwegian Centre for Mental Disorders Research, Institute of Clinical Medicine, University of Oslo, Oslo, Norway; KG Jebsen Centre for Neurodevelopmental Disorders, University of Oslo, Oslo, Norway.
Ida E SønderbyDepartment of Medical Genetics, Oslo University Hospital, Oslo, Norway; Norwegian Centre for Mental Disorders Research (NORMENT), Division of Mental Health and Addiction, Oslo University Hospital and Institute of Clinical Medicine, University of Oslo, Oslo, Norway; KG Jebsen Centre for Neurodevelopmental Disorders, University of Oslo, Oslo, Norway.
ENIGMA-CNV Working Group
Oslo University Hospital · NOUNSW Sydney · AUPhilipps University of Marburg · DEUniversity of Münster · DEForschungszentrum Jülich · DEQueensland University of Technology · AUUniversitätsmedizin Greifswald · DECardiff University · GBHunter Medical Research Institute · AUNorwegian University of Science and Technology · NOUniversity of Bonn · DEUniversity of Southern California · USVita-Salute San Raffaele University · ITVrije Universiteit Amsterdam · NLCentre Hospitalier Universitaire Sainte-Justine · CAHarvard University · USHaukeland University Hospital · NOKing's College London · GBOllscoil na Gaillimhe – University of Galway · IERadboud University Nijmegen · NL
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
$213.8MHARVARD CLINICAL AND TRANSLATIONAL SCIENCE CENTER (UL1)UL1RR025758 · NCRR · HARVARD MEDICAL SCHOOL · PI NADLER, LEE MARSHALL · 2008 to 2011
$91.4MFUNCTION BIRNU24RR021992 · NCRR · UNIVERSITY OF CALIFORNIA-IRVINE · PI POTKIN, STEVEN G · 2006 to 2010
$25.0MMORPHOMETRY BIOMEDICAL INFORMATICS RESEARCH NETWORKU24RR021382 · NCRR · MASSACHUSETTS GENERAL HOSPITAL · PI ROSEN, BRUCE R · 2004 to 2008
$24.1MULTRAHIGH FIELD TECHNOLOGY FOR FUNCTIONAL IMAGINGP41RR014075 · NCRR · MASSACHUSETTS GENERAL HOSPITAL · PI BOAS, DAVID A · 1999 to 2011
$16.4MTraining U54EB020403 · NIBIB · UNIVERSITY OF SOUTHERN CALIFORNIA · PI THOMPSON, PAUL M · 2014 to 2018
$10.1MGenetic Analysis and Manipulation Core (GAEC)P50HD105351 · NICHD · BOSTON CHILDREN'S HOSPITAL · PI SCOTT Loren POMEROY, MUSTAFA SAHIN · 2021 to 2026
$9.4MCreating a Pediatric Imaging-Genomics Data ResourceRC2DA029475 · NIDA · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI CHANG, LINDA, DALE, ANDERS M · 2009 to 2011
$9.1MIntegration of Genomics & Transcriptomics in Normal Twins & Major DepressionRC2MH089951 · NIMH · UNIV OF NORTH CAROLINA CHAPEL HILL · PI SULLIVAN, PATRICK F · 2009 to 2010
$6.5MNeurodevelopment and Psychosis in the 22q11.2 Deletion SyndromeR01MH085953 · NIMH · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI BEARDEN, CARRIE E · 2010 to 2020
$6.2MGenomic Studies of Bipolar Disorder in a Large Cohort from The NetherlandsR01MH090553 · NIMH · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI OPHOFF, ROEL A · 2010 to 2014
$6.0MLarge-Scale Evaluation of the Effect of Rare Genetic Variants on Psychiatric Symptoms and Cognitive AbilityU01MH119690 · NIMH · BOSTON CHILDREN'S HOSPITAL · PI ALMASY, LAURA A., GLAHN, DAVID C · 2019 to 2023
$5.9MDepartment of Health PR-ST-0416-10004EPA EP-C-15-001European Research Council 695313Medical Research Council MR/L010305/1Medical Research Council MR/N000390/1Medical Research Council MR/N022572/1Medical Research Council MR/N027558/1Medical Research Council MR/P005748/1Medical Research Council MR/R00465X/1Medical Research Council MR/S020306/1Medical Research Council MR/T033045/1Medical Research Council MR/W002418/1MRF_ MRF-058-0004-RG-DESRIMRF_ MRF-058-0009-RG-DESR-C0759NCRR NIH HHS P41 RR014075NCRR NIH HHS U24 RR021382NCRR NIH HHS U24 RR021992NCRR NIH HHS UL1 RR025758NIA NIH HHS R56 AG058854NIBIB NIH HHS R01 EB005846NIBIB NIH HHS U54 EB020403NICHD NIH HHS P50 HD105351NICHD NIH HHS R01 HD050735NICHD NIH HHS R01 HD061414NIDA NIH HHS R01 DA018673NIDA NIH HHS R37 DA018673NIDA NIH HHS RC2 DA029475NIDDK NIH HHS R01 DK092127NIMH NIH HHS R01 MH058799NIMH NIH HHS R01 MH081802NIMH NIH HHS R01 MH085953NIMH NIH HHS R01 MH090553NIMH NIH HHS R01 MH129858NIMH NIH HHS R21 MH116473NIMH NIH HHS R37 MH085953NIMH NIH HHS RC1 MH089257NIMH NIH HHS RC2 MH089951NIMH NIH HHS RC2 MH089995NIMH NIH HHS U01 MH101724NIMH NIH HHS U01 MH119736NIMH NIH HHS U01 MH119738NIMH NIH HHS U24 MH068457Wellcome Trust
Abstract
backgroundCarriers of the 1q21.1 distal and 15q11.2 BP1-BP2 copy number variants exhibit regional and global brain differences compared with noncarriers. However, interpreting regional differences is challenging if a global difference drives the regional brain differences. Intraindividual variability measures can be used to test for regional differences beyond global differences in brain structure.
methodsMagnetic resonance imaging data were used to obtain regional brain values for 1q21.1 distal deletion (n = 30) and duplication (n = 27) and 15q11.2 BP1-BP2 deletion (n = 170) and duplication (n = 243) carriers and matched noncarriers (n = 2350). Regional intra-deviation scores, i.e., the standardized difference between an individual's regional difference and global difference, were used to test for regional differences that diverge from the global difference.
resultsFor the 1q21.1 distal deletion carriers, cortical surface area for regions in the medial visual cortex, posterior cingulate, and temporal pole differed less and regions in the prefrontal and superior temporal cortex differed more than the global difference in cortical surface area. For the 15q11.2 BP1-BP2 deletion carriers, cortical thickness in regions in the medial visual cortex, auditory cortex, and temporal pole differed less and the prefrontal and somatosensory cortex differed more than the global difference in cortical thickness.
conclusionsWe find evidence for regional effects beyond differences in global brain measures in 1q21.1 distal and 15q11.2 BP1-BP2 copy number variants. The results provide new insight into brain profiling of the 1q21.1 distal and 15q11.2 BP1-BP2 copy number variants, with the potential to increase understanding of the mechanisms involved in altered neurodevelopment.
Indexed as
Abnormalities, MultipleChromosome DeletionBrainChromosomes, Human, Pair 1Chromosomes, Human, Pair 15DNA Copy Number VariationsHumansMagnetic Resonance ImagingMegalencephaly15q11.2 BP1-BP21q21.1 distalBrain structureCopy number variantsIntraindividual variabilityMagnetic resonance imaging
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