ArticleTranslational psychiatry2021
1q21.1 distal copy number variants are associated with cerebral and cognitive alterations in humans.
Open access · goldAbstract read
In one paragraph
Article in Translational psychiatry, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers, 1 of them a synthesis that pooled it.
0numbers the graph read from it
0cells of the map it votes in
25citing papers in PubMed, 1 pooled it
5.5field-weighted citation impact, top 4% of its field
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Who cites it
25 citing papers in PubMed, 1 synthesis or guideline pooled it, 40 citations in OpenAlex.
- Fully exploiting SNP arrays: a systematic review on the tools to extract underlying genomic structure.Briefings in bioinformatics · 2022Pooled it
- Article
- Penetrance of Neurodevelopmental Copy Number Variants Is Associated With Variations in Cortical Morphology.Biological psychiatry. Cognitive neuroscience and neuroimaging · 2025Article
- Disrupted transcriptional networks regulated by CHD1L during neurodevelopment underlie the mirrored neuroanatomical and growth phenotypes of the 1q21.1 copy number variant.Nucleic acids research · 2025Article
- Assessment of Brain Morphological Abnormalities and Neurodevelopmental Risk Copy Number Variants in Individuals from the UK Biobank.International journal of molecular sciences · 2025Article
- A review on the relationship between the distal 1q21.1 microdeletion and schizophrenia.Frontiers in genetics · 2025Review
- A genetic-epigenetic interplay at 1q21.1 locus underlies CHD1L-mediated vulnerability to primary progressive multiple sclerosis.Nature communications · 2024Article
- Beyond the Global Brain Differences: Intraindividual Variability Differences in 1q21.1 Distal and 15q11.2 BP1-BP2 Deletion Carriers.Biological psychiatry · 2024Article
- Large-Scale Neuroimaging of Mental Illness.Current topics in behavioral neurosciences · 2024Review
- Copy number variants and fetal structural abnormalities in stillborn fetuses: A secondary analysis of the Stillbirth Collaborative Research Network study.BJOG : an international journal of obstetrics and gynaecology · 2024Article
- Copy Number Variants Increasing Risk for Schizophrenia: Shared and Distinct Effects on Brain Morphometry and Cognitive Performance.Biological psychiatry global open science · 2023Article
- Subcortical Brain Alterations in Carriers of Genomic Copy Number Variants.The American journal of psychiatry · 2023Article
- A review of the cognitive impact of neurodevelopmental and neuropsychiatric associated copy number variants.Translational psychiatry · 2023Review
- Description of Copy Number Variations in a Series of Children and Adolescents with FASD in Reunion Island.Children (Basel, Switzerland) · 2023Article
- Developmental mechanisms underlying the evolution of human cortical circuits.Nature reviews. Neuroscience · 2023Review
- Subcortical brain alterations in carriers of genomic copy number variants.medRxiv : the preprint server for health sciences · 2023Article
- No signs of neurodegenerative effects in 15q11.2 BP1-BP2 copy number variant carriers in the UK Biobank.Translational psychiatry · 2023Article
- The impact of aging on morphometric changes in the cerebellum: A voxel-based morphometry study.Frontiers in aging neuroscience · 2023Article
- Analysis of 17 Prenatal Cases with the Chromosomal 1q21.1 Copy Number Variation.Disease markers · 2022Article
- Effects of copy number variations on brain structure and risk for psychiatric illness: Large-scale studies from the ENIGMA working groups on CNVs.Human brain mapping · 2022Review
Corrections and comments
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Authors and funding
145 authors at 20 institutions in 17 countries.
Ida E SønderbyNORMENT, Division of Mental Health and Addiction, Oslo University Hospital and Institute of Clinical Medicine, University of Oslo, Oslo, Norway. i.e.sonderby@medisin.uio.no.ORCID 0000-0001-7297-7855
Dennis van der MeerNORMENT, Division of Mental Health and Addiction, Oslo University Hospital and Institute of Clinical Medicine, University of Oslo, Oslo, Norway.ORCID 0000-0002-0466-386X
Clara MoreauSainte Justine Hospital Research Center, Montreal, Quebec, Canada.ORCID 0000-0001-6217-731X
Tobias KaufmannNORMENT, Division of Mental Health and Addiction, Oslo University Hospital and Institute of Clinical Medicine, University of Oslo, Oslo, Norway.ORCID 0000-0002-4003-1018
G Bragi WaltersdeCODE Genetics (Amgen), Reykjavík, Iceland.ORCID 0000-0002-5415-6487
Maria EllegaardDepartment of Clinical Biochemistry, Copenhagen University Hospital, Rigshospitalet, Glostrup, Denmark.
Abdel AbdellaouiDepartment of Psychiatry, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands.ORCID 0000-0003-1088-6784
David AmesUniversity of Melbourne Academic Unit for Psychiatry of Old Age, Kew, Australia.
Katrin AmuntsInstitute of Neuroscience and Medicine, INM-1, Research Centre Jülich, Jülich, Germany.ORCID 0000-0001-5828-0867
Micael AnderssonUmeå Centre for Functional Brain Imaging, Umeå University, Umeå, Sweden.
Nicola J ArmstrongMathematics and Statistics, Murdoch University, Perth, Australia.ORCID 0000-0002-4477-293X
Manon BernardResearch Institute, Hospital for Sick Children, Toronto, Ontario, Canada.
Nicholas B BlackburnSouth Texas Diabetes and Obesity Institute, Department of Human Genetics, School of Medicine, University of Texas Rio Grande Valley, Brownsville, USA.ORCID 0000-0002-9774-1539
John BlangeroSouth Texas Diabetes and Obesity Institute, Department of Human Genetics, School of Medicine, University of Texas Rio Grande Valley, Brownsville, USA.ORCID 0000-0001-6250-5723
Dorret I BoomsmaDepartment of Biological Psychology and Netherlands Twin Register, VU University Amsterdam, Amsterdam, the Netherlands.ORCID 0000-0002-7099-7972
Henry BrodatyCentre for Healthy Brain Ageing, School of Psychiatry, University of New South Wales, Sydney, Australia.ORCID 0000-0001-9487-6617
Rachel M BrouwerDepartment of Psychiatry, University Medical Center Brain Center, Utrecht University, Utrecht, the Netherlands.
Robin BülowInstitute of Diagnostic Radiology and Neuroradiology, University Medicine Greifswald, Greifswald, Germany.ORCID 0000-0003-1884-5784
Rune BøenNORMENT, Division of Mental Health and Addiction, Oslo University Hospital and Institute of Clinical Medicine, University of Oslo, Oslo, Norway.
Wiepke CahnDepartment of Psychiatry, University Medical Center Brain Center, Utrecht University, Utrecht, the Netherlands.ORCID 0000-0002-0482-8759
Vince D CalhounTri-institutional Center for Translational Research in Neuroimaging and Data Science (TReNDS), Georgia State University, Georgia Institute of Technology, Emory University, Atlanta, USA.
Svenja CaspersInstitute of Neuroscience and Medicine, INM-1, Research Centre Jülich, Jülich, Germany.
Christopher R K ChingImaging Genetics Center, Mark and Mary Stevens Institute for Neuroimaging and Informatics, University of Southern California, Los Angeles, USA.
Sven CichonInstitute of Neuroscience and Medicine, INM-1, Research Centre Jülich, Jülich, Germany.ORCID 0000-0002-9475-086X
Simone CiufoliniDepartment of Psychosis Studies, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, United Kingdom.
Benedicto Crespo-FacorroUniversity Hospital Marqués de Valdecilla, IDIVAL, Centro de Investigación Biomédica en Red Salud Mental (CIBERSAM), Santander, Spain.
Joanne E CurranSouth Texas Diabetes and Obesity Institute, Department of Human Genetics, School of Medicine, University of Texas Rio Grande Valley, Brownsville, USA.
Anders M DaleCenter for Multimodal Imaging and Genetics, University of California, San Diego, USA.
Shareefa DalvieDepartment of Psychiatry and Neuroscience Institute, University of Cape Town, Cape Town, Western Cape, South Africa.ORCID 0000-0003-2333-4823
Paola DazzanDepartment of Psychological Medicine, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, United Kingdom.ORCID 0000-0002-8427-3617
Eco J C de GeusDepartment of Biological Psychology and Netherlands Twin Register, VU University Amsterdam, Amsterdam, the Netherlands.ORCID 0000-0001-6022-2666
Greig I de ZubicarayFaculty of Health, Queensland University of Technology, Brisbane, Australia.ORCID 0000-0003-4506-0579
Sonja M C de ZwarteDepartment of Psychiatry, University Medical Center Brain Center, Utrecht University, Utrecht, the Netherlands.
Sylvane DesrivieresSocial, Genetic & Developmental Psychiatry Centre, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, United Kingdom.ORCID 0000-0002-9120-7060
Joanne L DohertyMRC Centre for Neuropsychiatric Genetics and Genomics, Cardiff University, Cardiff, United Kingdom.
Gary DonohoeCentre for Neuroimaging and Cognitive Genomics, School of Psychology and Discipline of Biochemistry, National University of Ireland Galway, Galway, Ireland.
Bogdan DraganskiLaboratory for Research in Neuroimaging LREN, Centre for Research in Neurosciences, Department of Clinical Neurosciences, Lausanne University Hospital and University of Lausanne, Lausanne, Switzerland.ORCID 0000-0002-5159-5919
Stefan EhrlichDivision of Psychological and Social Medicine, Faculty of Medicine, TU Dresden, Dresden, Germany.
Else EisingLanguage and Genetics Department, Max Planck Institute for Psycholinguistics, Nijmegen, the Netherlands.ORCID 0000-0001-9819-1260
Thomas EspesethDepartment of Psychology, University of Oslo, Oslo, Norway.
Kim FejginSignal Transduction, H. Lundbeck A/S, Ottiliavej 9, DK-2500, Valby, Denmark.
Simon E FisherLanguage and Genetics Department, Max Planck Institute for Psycholinguistics, Nijmegen, the Netherlands.ORCID 0000-0002-3132-1996
Tormod FladbyDepartment of Neurology, Akershus University Hospital, 1474, Nordbyhagen, Norway.
Oleksandr FreiNORMENT, Division of Mental Health and Addiction, Oslo University Hospital and Institute of Clinical Medicine, University of Oslo, Oslo, Norway.
Vincent FrouinUniversité Paris-Saclay, CEA, Neurospin, 91191, Gif-sur-Yvette, France.ORCID 0000-0001-9360-6623
Masaki FukunagaDivision of Cerebral Integration, National Institute for Physiological Sciences, Okazaki, Japan.
Thomas GareauUniversité Paris-Saclay, CEA, Neurospin, 91191, Gif-sur-Yvette, France.
Tian GePsychiatric and Neurodevelopmental Genetics Unit, Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.
David C GlahnBoston Children's Hospital, Boston, Massachusetts, USA.
Hans J GrabeDepartment of Psychiatry and Psychotherapy, University Medicine Greifswald, Greifswald, Germany.ORCID 0000-0003-3684-4208
Nynke A GroenewoldDepartment of Psychiatry and Neuroscience Institute, University of Cape Town, Cape Town, Western Cape, South Africa.
Ómar GústafssondeCODE Genetics (Amgen), Reykjavík, Iceland.
Jan HaavikDepartment of Biomedicine, University of Bergen, Bergen, Norway.ORCID 0000-0001-7865-2808
Asta K HabergDepartment of Neuromedicine and Movement Science, Norwegian University of Science and Technology, Trondheim, Norway.
Jeremy HallMRC Centre for Neuropsychiatric Genetics and Genomics, Cardiff University, Cardiff, United Kingdom.ORCID 0000-0002-0403-3278
Ryota HashimotoDepartment of Pathology of Mental Diseases, National Institute of Mental Health, National Center of Neurology and Psychiatry, Kodaira, Japan.
Jayne Y Hehir-KwaPrincess Màxima Center for Pediatric Oncology, Utrecht, the Netherlands.
Derrek P HibarGenentech, Inc., South San Francisco, 94080, CA, USA.
Manon H J HillegersDepartment of Child and Adolescent Psychiatry/Psychology, Erasmus MC-Sophia, Rotterdam, the Netherlands.ORCID 0000-0003-4877-282X
Per HoffmannInstitute of Medical Genetics and Pathology, University Hospital Basel, Basel, Switzerland.ORCID 0000-0002-6573-983X
Laurena HolleranCentre for Neuroimaging and Cognitive Genomics, School of Psychology and Discipline of Biochemistry, National University of Ireland Galway, Galway, Ireland.
Avram J HolmesPsychology Department, Yale University, New Haven, CT, USA.ORCID 0000-0001-6583-803X
Georg HomuthInterfaculty Institute for Genetics and Functional Genomics, University Medicine Greifswald, Greifswald, Germany.
Jouke-Jan HottengaDepartment of Biological Psychology and Netherlands Twin Register, VU University Amsterdam, Amsterdam, the Netherlands.ORCID 0000-0002-5668-2368
Hilleke E Hulshoff PolDepartment of Psychiatry, University Medical Center Brain Center, Utrecht University, Utrecht, the Netherlands.
Masashi IkedaDepartment of Psychiatry, Fujita Health University School of Medicine, Toyoake, Japan.ORCID 0000-0001-6237-2449
Neda JahanshadImaging Genetics Center, Mark and Mary Stevens Institute for Neuroimaging and Informatics, University of Southern California, Los Angeles, USA.ORCID 0000-0003-4401-8950
Christiane JockwitzInstitute of Neuroscience and Medicine, INM-1, Research Centre Jülich, Jülich, Germany.
Stefan JohanssonDepartment of Clinical Science, University of Bergen, Bergen, Norway.ORCID 0000-0002-2298-7008
Erik G JönssonCentre for Psychiatry Research, Department of Clinical Neuroscience, Karolinska Institutet, & Stockholm Health Care Services, Stockholm Region, Stockholm, Sweden.
Niklas R JørgensenDepartment of Clinical Biochemistry, Copenhagen University Hospital Rigshospitalet, Glostrup, Denmark.
Masataka KikuchiDepartment of Genome Informatics, Graduate School of Medicine, Osaka University, Osaka, Japan.ORCID 0000-0002-9562-841X
Emma E M KnowlesBoston Children's Hospital, Boston, Massachusetts, USA.
Kuldeep KumarSainte Justine Hospital Research Center, Montreal, Quebec, Canada.ORCID 0000-0003-3313-135X
Stephanie Le HellardNorwegian Centre for Mental Disorders Research, Department of Clinical Science, University of Bergen, Bergen, Norway.ORCID 0000-0002-8085-051X
Costin LeuStanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
David E J LindenSchool of Mental Health and Neuroscience, Faculty of Health, Medicine and Life Sciences, Maastricht University, Maastricht, the Netherlands.
Jingyu LiuTri-institutional Center for Translational Research in Neuroimaging and Data Science (TReNDS), Georgia State University, Georgia Institute of Technology, Emory University, Atlanta, USA.ORCID 0000-0002-1724-7523
Arvid LundervoldDepartment of Biomedicine, University of Bergen, Bergen, Norway.
Astri Johansen LundervoldDepartment of Biological and Medical Psychology, University of Bergen, Bergen, Norway.ORCID 0000-0002-6819-6164
Anne M MaillardService des Troubles du Spectre de l'Autisme et apparentés, Lausanne University Hospital, Lausanne, Switzerland.ORCID 0000-0002-4811-0693
Nicholas G MartinGenetic Epidemiology, QIMR Berghofer Medical Research Institute, Brisbane, Australia.
Sandra Martin-BrevetLaboratory for Research in Neuroimaging LREN, Centre for Research in Neurosciences, Department of Clinical Neurosciences, Lausanne University Hospital and University of Lausanne, Lausanne, Switzerland.
Karen A MatherCentre for Healthy Brain Ageing, School of Psychiatry, University of New South Wales, Sydney, Australia.ORCID 0000-0003-4143-8941
Samuel R MathiasBoston Children's Hospital, Boston, Massachusetts, USA.
Katie L McMahonHerston Imaging Research Facility and School of Clinical Sciences, Queensland University of Technology, Brisbane, Australia.ORCID 0000-0002-6357-615X
Allan F McRaeInstitute for Molecular Bioscience, University of Queensland, Brisbane, Australia.ORCID 0000-0001-5286-5485
Sarah E MedlandPsychiatric Genetics, QIMR Berghofer Medical Research Institute, Brisbane, Australia.ORCID 0000-0003-1382-380X
Andreas Meyer-LindenbergDepartment of Psychiatry and Psychotherapy, Central Institute of Mental Health, Medical Faculty Mannheim, University of Heidelberg, Mannheim, Germany.
Torgeir MobergetNORMENT, Division of Mental Health and Addiction, Oslo University Hospital and Institute of Clinical Medicine, University of Oslo, Oslo, Norway.
Claudia ModenatoLaboratory for Research in Neuroimaging LREN, Centre for Research in Neurosciences, Department of Clinical Neurosciences, Lausanne University Hospital and University of Lausanne, Lausanne, Switzerland.ORCID 0000-0002-3051-5705
Jennifer Monereo SánchezDepartment of Radiology and Nuclear Medicine, Maastricht University Medical Center, Maastricht, the Netherlands.ORCID 0000-0001-7587-7737
Derek W MorrisCentre for Neuroimaging and Cognitive Genomics, School of Psychology and Discipline of Biochemistry, National University of Ireland Galway, Galway, Ireland.ORCID 0000-0002-3413-570X
Thomas W MühleisenInstitute of Neuroscience and Medicine, INM-1, Research Centre Jülich, Jülich, Germany.ORCID 0000-0002-6057-5952
Robin M MurrayInstitute of Psychiatry, Psychology and Neuroscience, King's College London, London, United Kingdom.ORCID 0000-0003-0829-0519
Jacob NielsenSignal Transduction, H. Lundbeck A/S, Ottiliavej 9, DK-2500, Valby, Denmark.
Jan E NordvikThe CatoSenteret Rehabilitation Center, Son, Norway.
Lars NybergUmeå Centre for Functional Brain Imaging, Umeå University, Umeå, Sweden.
Loes M Olde LoohuisCenter for Neurobehavioral Genetics, University of California, Los Angeles, USA.ORCID 0000-0002-3327-7837
Roel A OphoffCenter for Neurobehavioral Genetics, University of California, Los Angeles, USA.ORCID 0000-0002-8287-6457
Michael J OwenMRC Centre for Neuropsychiatric Genetics and Genomics, Cardiff University, Cardiff, United Kingdom.ORCID 0000-0003-4798-0862
Tomas PausBloorview Research Institute, Holland Bloorview Kids Rehabilitation Hospital, Toronto, Ontario, Canada.ORCID 0000-0003-1495-9338
Zdenka PausovaResearch Institute, Hospital for Sick Children, Toronto, Ontario, Canada.ORCID 0000-0002-7784-1380
Juan M PeraltaSouth Texas Diabetes and Obesity Institute, Department of Human Genetics, School of Medicine, University of Texas Rio Grande Valley, Brownsville, USA.ORCID 0000-0002-8811-5579
G Bruce PikeDepartments of Radiology and Clinical Neurosciences, University of Calgary, Calgary, Alberta, Canada.ORCID 0000-0001-8924-683X
Carlos PrietoBioinformatics Service, Nucleus, University of Salamanca, Salamanca, Spain.ORCID 0000-0001-8178-9768
Erin B QuinlanCentre for Population Neuroscience and Precision Medicine, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, United Kingdom.ORCID 0000-0003-2927-1632
Céline S ReinboldDepartment of Biomedicine, University of Basel, Basel, Switzerland.
Tiago Reis MarquesDepartment of Psychosis, Institute of Psychiatry, Psychology & Neuroscience, Kings College, London, United Kingdom.ORCID 0000-0003-0602-7661
James J H RuckerInstitute of Psychiatry, Psychology and Neuroscience, London, London, United Kingdom.ORCID 0000-0003-4647-8088
Perminder S SachdevCentre for Healthy Brain Ageing, School of Psychiatry, University of New South Wales, Sydney, Australia.ORCID 0000-0002-9595-3220
Sigrid B SandoDepartment of Neuromedicine and Movement Science, Norwegian University of Science and Technology, Trondheim, Norway.
Peter R SchofieldNeuroscience Research Australia, Sydney, Australia.ORCID 0000-0003-2967-9662
Andrew J SchorkInstitute of Biological Psychiatry, Roskilde, Denmark.ORCID 0000-0003-4164-9335
Gunter SchumannCentre for Population Neuroscience and Precision Medicine, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, United Kingdom.ORCID 0000-0002-7740-6469
Jean ShinResearch Institute, Hospital for Sick Children, Toronto, Ontario, Canada.ORCID 0000-0001-7353-5178
Elena ShumskayaDonders Institute for Brain, Cognition and Behaviour, Radboud University, Nijmegen, the Netherlands.
Ana I SilvaSchool of Mental Health and Neuroscience, Faculty of Health, Medicine and Life Sciences, Maastricht University, Maastricht, the Netherlands.ORCID 0000-0002-1184-4909
Sanjay M SisodiyaDepartment of Clinical and Experimental Epilepsy, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.
Vidar M SteenNorwegian Centre for Mental Disorders Research, Department of Clinical Science, University of Bergen, Bergen, Norway.
Dan J SteinSouth African Medical Research Council Unit on Risk and Resilience in Mental Disorders, Department of Psychiatry and Neuroscience Institute, University of Cape Town, Cape Town, South Africa.ORCID 0000-0001-7218-7810
Lachlan T StrikeQueensland Brain Institute, University of Queensland, Brisbane, Australia.ORCID 0000-0003-2885-5898
Ikuo K SuzukiVIB Center for Brain & Disease Research, Stem Cell and Developmental Neurobiology Lab, Leuven, Belgium.
Christian K TamnesNORMENT, Division of Mental Health and Addiction, Oslo University Hospital and Institute of Clinical Medicine, University of Oslo, Oslo, Norway.ORCID 0000-0002-9191-6764
Alexander TeumerInstitute for Community Medicine, University Medicine Greifswald, Greifswald, Germany.ORCID 0000-0002-8309-094X
Anbupalam ThalamuthuCentre for Healthy Brain Ageing, School of Psychiatry, University of New South Wales, Sydney, Australia.
Diana Tordesillas-GutiérrezUniversity Hospital Marqués de Valdecilla, IDIVAL, Centro de Investigación Biomédica en Red Salud Mental (CIBERSAM), Santander, Spain.ORCID 0000-0003-1458-3932
Anne UhlmannDepartment of Psychiatry and Neuroscience Institute, University of Cape Town, Cape Town, Western Cape, South Africa.
Magnus O UlfarssondeCODE Genetics (Amgen), Reykjavík, Iceland.ORCID 0000-0002-0461-040X
Dennis van 't EntDepartment of Biological Psychology and Netherlands Twin Register, VU University Amsterdam, Amsterdam, the Netherlands.
Marianne B M van den BreeMRC Centre for Neuropsychiatric Genetics and Genomics, Cardiff University, Cardiff, United Kingdom.ORCID 0000-0002-4426-3254
Pierre VanderhaeghenVIB-KU Leuven Center for Brain & Disease Research, 3000, Leuven, Belgium.ORCID 0000-0001-7899-5720
Evangelos VassosInstitute of Psychiatry, Psychology and Neuroscience, King's College London, London, United Kingdom.ORCID 0000-0001-6363-0438
Wei WenCentre for Healthy Brain Ageing, School of Psychiatry, University of New South Wales, Sydney, Australia.ORCID 0000-0003-2753-3870
Katharina WittfeldDepartment of Psychiatry and Psychotherapy, University Medicine Greifswald, Greifswald, Germany.ORCID 0000-0003-4383-5043
Margaret J WrightQueensland Brain Institute, University of Queensland, Brisbane, Australia.ORCID 0000-0001-7133-4970
Ingrid AgartzCentre for Psychiatry Research, Department of Clinical Neuroscience, Karolinska Institutet, & Stockholm Health Care Services, Stockholm Region, Stockholm, Sweden.
Srdjan DjurovicDepartment of Medical Genetics, Oslo University Hospital, Oslo, Norway.ORCID 0000-0002-8140-8061
Lars T WestlyeNORMENT, Division of Mental Health and Addiction, Oslo University Hospital and Institute of Clinical Medicine, University of Oslo, Oslo, Norway.ORCID 0000-0001-8644-956X
Hreinn StefanssondeCODE Genetics (Amgen), Reykjavík, Iceland.ORCID 0000-0002-9331-6666
Kari StefanssondeCODE Genetics (Amgen), Reykjavík, Iceland.ORCID 0000-0003-1676-864X
Sébastien JacquemontSainte Justine Hospital Research Center, Montreal, Quebec, Canada.ORCID 0000-0001-6838-8767
Paul M ThompsonImaging Genetics Center, Mark and Mary Stevens Institute for Neuroimaging and Informatics, University of Southern California, Los Angeles, USA.
Ole A AndreassenNORMENT, Division of Mental Health and Addiction, Oslo University Hospital and Institute of Clinical Medicine, University of Oslo, Oslo, Norway.ORCID 0000-0002-4461-3568
ENIGMA-CNV working group
Oslo University Hospital · NOHaukeland University Hospital · NOKing's College London · GBUNSW Sydney · AUCardiff University · GBdeCODE Genetics (Iceland) · ISUniversitätsmedizin Greifswald · DEUniversity of Oslo · NOUtrecht University · NLAmsterdam Neuroscience · NLMaastricht University · NLQueensland University of Technology · AUThe University of Texas Rio Grande Valley · USBoston Children's Hospital · USCentre Hospitalier Universitaire Sainte-Justine · CAOllscoil na Gaillimhe – University of Galway · IEThe University of Queensland · AUUniversity of Cape Town · ZAUniversity of Lausanne · CHUniversity of Southern California · US
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
$213.8MSouth Texas Alzheimer's Disease Research CenterP30AG066546 · NIA · UNIVERSITY OF TEXAS HLTH SCIENCE CENTER · PI Mohamad Habes · 2021 to 2026
$24.0MTranscranial Direct Current Stimulation for Treatment of Auditory Verbal HalluciP20GM103472 · NIGMS · THE MIND RESEARCH NETWORK · PI BEDRICK, EDWARD J · 2012 to 2017
$14.3MTraining U54EB020403 · NIBIB · UNIVERSITY OF SOUTHERN CALIFORNIA · PI THOMPSON, PAUL M · 2014 to 2018
$10.1MMultivariate methods for identifying multitask/multimodal brain imaging biomarkersR01EB006841 · NIBIB · THE MIND RESEARCH NETWORK · PI VINCE D CALHOUN, Sergey Plis · 2007 to 2026
$9.8MCreating a Pediatric Imaging-Genomics Data ResourceRC2DA029475 · NIDA · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI CHANG, LINDA, DALE, ANDERS M · 2009 to 2011
$9.1MPilot Project Program (PPP)P30GM122734 · NIGMS · THE MIND RESEARCH NETWORK · PI MAYER, ANDREW ROBERT · 2018 to 2022
$7.0MIntegration of Genomics & Transcriptomics in Normal Twins & Major DepressionRC2MH089951 · NIMH · UNIV OF NORTH CAROLINA CHAPEL HILL · PI SULLIVAN, PATRICK F · 2009 to 2010
$6.5MRio Grande Valley Alzheimer's Resource Center for Minority Aging Research: Partnerships for ProgressP30AG059305 · NIA · UNIVERSITY OF TEXAS RIO GRANDE VALLEY · PI Gladys E. Maestre · 2018 to 2026
$5.8MGenetics of Brain Structure and FunctionR01MH078111 · NIMH · TEXAS BIOMEDICAL RESEARCH INSTITUTE · PI BLANGERO, JOHN · 2006 to 2014
$4.5MGenetics of Brain Structure and FunctionR01MH078143 · NIMH · YALE UNIVERSITY · PI GLAHN, DAVID C · 2006 to 2014
$4.3MConstruction of a Biomedical Research Facility at the U*C06RR020547 · NCRR · UNIV/TEXAS BROWNSVILLE & SOUTHMOST COLL · PI KROUSE, JOHN H · 2010 to 2010
$4.0MEPA EP-C-15-001Medical Research Council G0801418Medical Research Council MC_PC_17228Medical Research Council MC_QA137853Medical Research Council MR/L010305/1Medical Research Council MR/N000390/1Medical Research Council MR/N022572/1Medical Research Council MR/R00465X/1Medical Research Council MR/S003444/1Medical Research Council MR/S020306/1Medical Research Council MR/T033045/1MRF_ MRF-058-0004-RG-DESRIMRF_ MRF-058-0009-RG-DESR-C0759NCRR NIH HHS C06 RR020547NIA NIH HHS P30 AG059305NIA NIH HHS P30 AG066546NIA NIH HHS R01 AG058464NIA NIH HHS R56 AG058854NIA NIH HHS T32 AG058507NIBIB NIH HHS R01 EB006841NIBIB NIH HHS U54 EB020403NICHD NIH HHS R01 HD050735NIDA NIH HHS R01 DA018673NIDA NIH HHS R37 DA018673NIDA NIH HHS RC2 DA029475NIDDK NIH HHS R01 DK092127NIGMS NIH HHS P20 GM103472NIGMS NIH HHS P30 GM122734NIMH NIH HHS R01 MH058799NIMH NIH HHS R01 MH078111NIMH NIH HHS R01 MH078143NIMH NIH HHS R01 MH081802NIMH NIH HHS R01 MH083824NIMH NIH HHS R01 MH085772NIMH NIH HHS R01 MH116147NIMH NIH HHS RC2 MH089951NIMH NIH HHS RC2 MH089995NIMH NIH HHS T32 MH073526NIMH NIH HHS U01 MH101724NIMH NIH HHS U24 MH068457Wellcome Trust
Abstract
Low-frequency 1q21.1 distal deletion and duplication copy number variant (CNV) carriers are predisposed to multiple neurodevelopmental disorders, including schizophrenia, autism and intellectual disability. Human carriers display a high prevalence of micro- and macrocephaly in deletion and duplication carriers, respectively. The underlying brain structural diversity remains largely unknown. We systematically called CNVs in 38 cohorts from the large-scale ENIGMA-CNV collaboration and the UK Biobank and identified 28 1q21.1 distal deletion and 22 duplication carriers and 37,088 non-carriers (48% male) derived from 15 distinct magnetic resonance imaging scanner sites. With standardized methods, we compared subcortical and cortical brain measures (all) and cognitive performance (UK Biobank only) between carrier groups also testing for mediation of brain structure on cognition. We identified positive dosage effects of copy number on intracranial volume (ICV) and total cortical surface area, with the largest effects in frontal and cingulate cortices, and negative dosage effects on caudate and hippocampal volumes. The carriers displayed distinct cognitive deficit profiles in cognitive tasks from the UK Biobank with intermediate decreases in duplication carriers and somewhat larger in deletion carriers-the latter potentially mediated by ICV or cortical surface area. These results shed light on pathobiological mechanisms of neurodevelopmental disorders, by demonstrating gene dose effect on specific brain structures and effect on cognitive function.
Indexed as
DNA Copy Number VariationsSchizophreniaBrainChromosome DeletionCognitionFemaleHumansMale
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