Evidence map›Paper›PMID 30283035›Full record

ArticleMolecular psychiatry2020

Dose response of the 16p11.2 distal copy number variant on intracranial volume and basal ganglia.

Ida E Sønderby, Ómar Gústafsson, Nhat Trung Doan, Derrek P Hibar, Sandra Martin-Brevet, Abdel Abdellaoui, David Ames, Katrin Amunts, Michael Andersson, Nicola J Armstrong and 144 more

Erratum issuedAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Molecular psychiatry, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 41 papers, 3 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
41citing papers in PubMed, 3 pooled it
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

41 citing papers in PubMed, 3 syntheses or guidelines pooled it.

  1. Pooled it
  2. Pooled it
  3. Pooled it
  4. Article
  5. Article
  6. Article
  7. [Prenatal ultrasound and genetic characteristics of 60 fetuses with 16p11.2 microdeletion].Zhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciences · 2026
    Article
  8. Article
  9. Article
  10. Article
  11. Review
  12. Article
  13. Article
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  15. Article
  16. Motor difficulties in 16p11.2 copy number variation.Autism research : official journal of the International Society for Autism Research · 2024
    Article
  17. Article
  18. Copy Number Variations in Neuropsychiatric Disorders.International journal of molecular sciences · 2023
    Review
  19. Article
  20. Article
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

154 authors.

Ida E SønderbyNORMENT, K.G. Jebsen Centre for Psychosis Research, Institute of Clinical Medicine, University of Oslo and Division of Mental Health and Addiction, Oslo University Hospital, Oslo, Norway.
Ómar GústafssondeCODE Genetics/Amgen, Reykjavik, Iceland.
Nhat Trung DoanNORMENT, K.G. Jebsen Centre for Psychosis Research, Institute of Clinical Medicine, University of Oslo and Division of Mental Health and Addiction, Oslo University Hospital, Oslo, Norway.
Derrek P HibarImaging Genetics Center, Mark and Mary Stevens Neuroimaging and Informatics Institute, Keck School of Medicine of the University of Southern California, Marina del Rey, USA.
Sandra Martin-BrevetService of Medical Genetics, Centre Hospitalier Universitaire Vaudois and University of Lausanne, Rue du Bugnon 46, 1011, Lausanne, Switzerland.
Abdel AbdellaouiBiological Psychology, Vrije Universiteit Amsterdam, van Boechorststraat 1, 1081 BT, Amsterdam, The Netherlands.
David AmesNational Ageing Research Institute, Melbourne, Australia.
Katrin AmuntsInstitute of Neuroscience and Medicine (INM-1), Research Centre Juelich, Wilhelm-Johnen-Str., 52425, Juelich, Germany.
Michael AnderssonUmeå Center for Functional Brain Imaging (UFBI), Umeå University, 90187, Umeå, Sweden.
Nicola J ArmstrongMathematics and Statistics, Murdoch University, Perth, Australia.
Manon BernardThe Hospital for Sick Children, University of Toronto, Toronto, M5G 1X8, Canada.
Nicholas BlackburnSouth Texas Diabetes and Obesity Institute, Department of Human Genetics, School of Medicine, University of Texas Rio Grande Valley, One West University Blvd., 78520, Brownsville, TX, USA.
John BlangeroSouth Texas Diabetes and Obesity Institute, Department of Human Genetics, School of Medicine, University of Texas Rio Grande Valley, One West University Blvd., 78520, Brownsville, TX, USA.
Dorret I BoomsmaNetherlands Twin Register, Vrije Universiteit, van der Boechorststraat 1, 1081BT, Amsterdam, Netherlands.
Janita BraltenDepartment of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
Hans-Richard BrattbakDepartment of Clinical Science, University of Bergen, Bergen, Norway.
Henry BrodatyCentre for Healthy Brain Ageing and Dementia Collaborative Research Centre, UNSW, Sydney, Australia.
Rachel M BrouwerDepartment of Psychiatry, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, The Netherlands.
Robin BülowDepartment of Diagnostic Radiology and Neuroradiology, University Medicine Greifswald, Greifswald, Germany.
Vince CalhounThe Mind Research Network, The University of New Mexico, Albuquerque, NM, Mexico.
Svenja CaspersInstitute of Neuroscience and Medicine (INM-1), Research Centre Juelich, Wilhelm-Johnen-Str., 52425, Juelich, Germany.
Gianpiero CavalleriThe Royal College of Surgeons in Ireland, 123 St Stephen's Green, Dublin 2, Ireland.
Chi-Hua ChenDepartment of Radiology, University of California San Diego, La Jolla, USA.
Sven CichonInstitute of Neuroscience and Medicine (INM-1), Structural and Functional Organisation of the Brain, Genomic Imaging, Research Centre Juelich, Leo-Brandt-Strasse 5, 52425, Jülich, Germany.
Simone CiufoliniPsychosis Studies, Insitute of Psychiatry, Psychology and Neuroscience, King's College London, 16 De Crespingy Park, SE5 8AF, London, United Kingdom.
Aiden CorvinNeuropsychiatric Genetics Research Group, Discipline of Psychiatry, School of Medicine, Trinity College Dublin, Dublin 2, Ireland.
Benedicto Crespo-FacorroDepartment of Medicine and Psychiatry, University Hospital Marqués de Valdecilla, School of Medicine, University of Cantabria-IDIVAL, 39008, Santander, Spain.
Joanne E CurranSouth Texas Diabetes and Obesity Institute, Department of Human Genetics, School of Medicine, University of Texas Rio Grande Valley, One West University Blvd., 78520, Brownsville, TX, USA.
Anders M DaleCenter for Multimodal Imaging and Genetics, University of California San Diego, La Jolla, USA.
Shareefa DalvieDepartment of Psychiatry and Mental Health, Anzio Road, 7925, Cape Town, South Africa.
Paola DazzanDepartment of Psychosis Studies, Institute of Psychiatry, Psychology and Neuroscience, King's College London, De Crespigny Park, SE5 8AF, London, United Kingdom.
Eco J C de GeusDepartment of Biological Psychology, Behavioral and Movement Sciences, Vrije Universiteit, van der Boechorststraat 1, 1081 BT, Amsterdam, Netherlands.
Greig I de ZubicarayFaculty of Health and Institute of Health and Biomedical Innovation, Queensland University of Technology, Brisbane, Queensland, Australia.
Sonja M C de ZwarteDepartment of Psychiatry, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, The Netherlands.
Norman DelantyThe Royal College of Surgeons in Ireland, 123 St Stephen's Green, Dublin 2, Ireland.
Anouk den BraberDepartment of Biological Psychology, Behavioral and Movement Sciences, Vrije Universiteit, van der Boechorststraat 1, 1081 BT, Amsterdam, Netherlands.
Sylvane DesrivièresMedical Research Council - Social, Genetic and Developmental Psychiatry Centre, Institute of Psychiatry, Psychology & Neuroscience, King's College London, London, United Kingdom.
Gary DonohoeCognitive Genetics and Cognitive Therapy Group, Neuroimaging, Cognition & Genomics Centre (NICOG) & NCBES Galway Neuroscience Centre, School of Psychology and Discipline of Biochemistry, National University of Ireland Galway, H91 TK33, Galway, Ireland.
Bogdan DraganskiLREN - Département des neurosciences cliniques, Centre Hospitalier Universitaire Vaudois and University of Lausanne, Lausanne, Switzerland.
Stefan EhrlichDivision of Psychological and Social Medicine and Developmental Neurosciences, Faculty of Medicine, TU Dresden, 01307, Dresden, Germany.
Thomas EspesethNORMENT, K.G. Jebsen Centre for Psychosis Research, Institute of Clinical Medicine, University of Oslo and Division of Mental Health and Addiction, Oslo University Hospital, Oslo, Norway.
Simon E FisherLanguage and Genetics Department, Max Planck Institute for Psycholinguistics, Wundtlaan 1, 6525 XD, Nijmegen, Netherlands.
Barbara FrankeDepartment of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
Vincent FrouinNeuroSpin, CEA, Université Paris-Saclay, F-91191, Gif-sur-Yvette, France.
Masaki FukunagaDivision of Cerebral Integration, National Institute for Physiological Sciences, Aichi, Japan.
Thomas GareauNeuroSpin, CEA, Université Paris-Saclay, F-91191, Gif-sur-Yvette, France.
David C GlahnYale University School of Medicine, 40 Temple Street, Suite 6E, 6511, New Haven, Vaud, USA.
Hans GrabeDepartment of Psychiatry und Psychotherapy, University Medicine Greifswald, Greifswald, Germany.
Nynke A GroenewoldDepartment of Psychiatry and Mental Health, Anzio Road, 7925, Cape Town, South Africa.
Jan HaavikK.G. Jebsen Centre for Neuropsychiatric Disorders, University of Bergen, Bergen, Norway.
Asta HåbergDepartment of Neuroscience, Faculty of Medicine, Norwegian University of Science and Technology, Trondheim, Norway.
Ryota HashimotoMolecular Research Center for Children's Mental Development, United Graduate School of Child Development, Osaka University, Suita, Osaka, Japan.
Jayne Y Hehir-KwaPrincess Máxima Center for Pediatric Oncology, Lundlaan 6, 3584 EA, Utrecht, The Netherlands.
Andreas HeinzDept. of Psychiatry and Psychotherapie, Charite, Humboldt University, Chariteplatz 1, 10017, Berlin, Germany.
Manon H J HillegersDepartment of Psychiatry, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, The Netherlands.
Per HoffmannHuman Genomics Research Group, Department of Biomedicine, University of Basel, Hebelstrasse 20, 4031, Basel, Switzerland.
Laurena HolleranThe Centre for Neuroimaging & Cognitive Genomics (NICOG) and NCBES Galway Neuroscience Centre, National University of Ireland Galway, Galway, Ireland.
Jouke-Jan HottengaBiological Psychology, Vrije Universiteit Amsterdam, van Boechorststraat 1, 1081 BT, Amsterdam, The Netherlands.
Hilleke E HulshoffDepartment of Psychiatry, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, The Netherlands.
Masashi IkedaDepartment of Psychiatry, Fujita Health University School of Medicine, Toyoake, Japan.
Neda JahanshadImaging Genetics Center, Mark and Mary Stevens Neuroimaging and Informatics Institute, Keck School of Medicine of the University of Southern California, Marina del Rey, USA.
Terry JerniganCenter for Human Development, University of California San Diego, San Diego, CA, USA.
Christiane JockwitzInstitute of Neuroscience and Medicine (INM-1), Research Centre Juelich, Wilhelm-Johnen-Str., 52425, Juelich, Germany.
Stefan JohanssonCenter for Medical Genetics and Molecular Medicine, Haukeland University Hospital, Bergen, Norway.
Gudrun A JonsdottirdeCODE Genetics/Amgen, Reykjavik, Iceland.
Erik G JönssonNORMENT, K.G. Jebsen Centre for Psychosis Research, Institute of Clinical Medicine, University of Oslo and Division of Mental Health and Addiction, Oslo University Hospital, Oslo, Norway.
Rene KahnDepartment of Psychiatry, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, The Netherlands.
Tobias KaufmannNORMENT, K.G. Jebsen Centre for Psychosis Research, Institute of Clinical Medicine, University of Oslo and Division of Mental Health and Addiction, Oslo University Hospital, Oslo, Norway.
Sinead KellyThe Centre for Neuroimaging & Cognitive Genomics (NICOG) and NCBES Galway Neuroscience Centre, National University of Ireland Galway, Galway, Ireland.
Masataka KikuchiDepartment of Genome Informatics, Graduate School of Medicine, Osaka University, 2-2, Yamadaoka, Suita, Osaka, 565-0871, Japan.
Emma E M KnowlesDepartment of Psychiatry, Yale University, 40 Temple Street, 6515, New Haven, CT, USA.
Knut K KolskårNORMENT, K.G. Jebsen Centre for Psychosis Research, Institute of Clinical Medicine, University of Oslo and Division of Mental Health and Addiction, Oslo University Hospital, Oslo, Norway.
John B KwokBrain and Mind Centre, University of Sydney, Sydney, Australia.
Stephanie Le HellardNORMENT - KG Jebsen Centre, Department of Clinical Science, University of Bergen, Jonas Lies veg 87, 5021, Bergen, Norway.
Costin LeuGenomic Medicine Institute, Lerner Research Institute, Cleveland Clinic, Cleveland, OH, USA.
Jingyu LiuThe Mind Research Network, 1101 Yale Blvd., 87106, Albuquerque, CT, USA.
Astri J LundervoldK.G. Jebsen Centre for Neuropsychiatric Disorders, University of Bergen, Bergen, Norway.
Arvid LundervoldDepartment of Biomedicine, University of Bergen, 5009, Bergen, Norway.
Nicholas G MartinQIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia.
Karen MatherCentre for Healthy Brain Ageing, School of Psychiatry, University of New South Wales, Sydney, New South Wales, 2052, Australia.
Samuel R MathiasDepartment of Psychiatry, Yale University, 40 Temple Street, 6515, New Haven, CT, USA.
Mark McCormackMolecular and Cellular Therapeutics, Royal College of Surgeons in Ireland, 123 St. Stephens Green, D02 YN77, Dublin, Ireland.
Katie L McMahonCentre for Advanced Imaging, University of Queensland, Brisbane, Queensland, Australia.
Allan McRaeProgram in Complex Trait Genomics, Institute for Molecular Bioscience, University of Queensland, St Lucia, Queensland, Australia.
Yuri MilaneschiDepartment of Psychiatry, Amsterdam Public Health and Amsterdam Neuroscience, VU University Medical Center/GGZ inGeest, Amsterdam, The Netherlands, Oldenaller 1, 1081 HJ, Amsterdam, The Netherlands.
Clara MoreauCHU Sainte-Justine Research Center, Université de Montréal, Montréal, QC, Canada.
Derek MorrisCognitive Genetics and Cognitive Therapy Group, Neuroimaging, Cognition & Genomics Centre (NICOG) & NCBES Galway Neuroscience Centre, School of Psychology and Discipline of Biochemistry, National University of Ireland Galway, H91 TK33, Galway, Ireland.
David MothersillThe Centre for Neuroimaging & Cognitive Genomics (NICOG) and NCBES Galway Neuroscience Centre, National University of Ireland Galway, Galway, Ireland.
Thomas W MühleisenInstitute of Neuroscience and Medicine (INM-1), Structural and Functional Organisation of the Brain, Genomic Imaging, Research Centre Juelich, Leo-Brandt-Strasse 5, 52425, Jülich, Germany.
Robin MurrayDepartments of Psychosis Studies, Institute of Psychiatry, Psychology & Neuroscience, King's College London, London, United Kingdom.
Jan E NordvikSunnaas Rehabilitation Hospital HT, Nesodden, Norway.
Lars NybergUmeå Center for Functional Brain Imaging (UFBI), Umeå University, 90187, Umeå, Sweden.
Loes M Olde LoohuisCenter for Neurobehavioral Genetics, University of California, Los Angeles, California, 90095, USA.
Roel OphoffDepartment of Psychiatry, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, The Netherlands.
Tomas PausRotman Research Institute, University of Toronto, Toronto, M6A 2E1, Canada.
Zdenka PausovaThe Hospital for Sick Children, University of Toronto, Toronto, M5G 1X8, Canada.
Brenda PenninxDepartment of Psychiatry, Amsterdam Public Health and Amsterdam Neuroscience, VU University Medical, Amsterdam, Netherlands.
Juan M PeraltaSouth Texas Diabetes and Obesity Institute, Department of Human Genetics, School of Medicine, University of Texas Rio Grande Valley, One West University Blvd., 78520, Brownsville, TX, USA.
Bruce PikeDepartments of Radiology & Clinical Neuroscience, University of Calgary, Calgary, T2N 1N4, Canada.
Carlos PrietoBioinformatics Service, Nucleus, University of Salamanca (USAL), 37007, Salamanca, Spain.
Sara PudasUmeå Center for Functional Brain Imaging (UFBI), Umeå University, 90187, Umeå, Sweden.
Erin QuinlanCentre for Population Neuroscience and Stratified Medicine, Social, Genetic and Development Psychiatry Centre, Institute of Psychiatry, Psychology and Neuroscience, King's College London, 16 De Crespigny Park, SE5 8AF, London, UK.
Daniel S QuintanaNORMENT, K.G. Jebsen Centre for Psychosis Research, Institute of Clinical Medicine, University of Oslo and Division of Mental Health and Addiction, Oslo University Hospital, Oslo, Norway.
Céline S ReinboldHuman Genomics Research Group, Department of Biomedicine, University of Basel, Hebelstrasse 20, 4031, Basel, Switzerland.
Tiago Reis MarquesDepartment of Psychosis Studies, Institute of Psychiatry, Psychology and Neuroscience, King's College London, De Crespigny Park, SE5 8AF, London, United Kingdom.
Alexandre ReymondCenter for Integrative Genomics, University of Lausanne, Genopode building, CH-1015, Lausanne, Switzerland.
Genevieve RichardNORMENT, K.G. Jebsen Centre for Psychosis Research, Institute of Clinical Medicine, University of Oslo and Division of Mental Health and Addiction, Oslo University Hospital, Oslo, Norway.
Borja Rodriguez-HerrerosService of Medical Genetics, Centre Hospitalier Universitaire Vaudois and University of Lausanne, Rue du Bugnon 46, 1011, Lausanne, Switzerland.
Roberto Roiz-SantiañezDepartment of Medicine and Psychiatry, University Hospital Marqués de Valdecilla, School of Medicine, University of Cantabria-IDIVAL, 39008, Santander, Spain.
Jarek RokickiNORMENT, K.G. Jebsen Centre for Psychosis Research, Institute of Clinical Medicine, University of Oslo and Division of Mental Health and Addiction, Oslo University Hospital, Oslo, Norway.
James RuckerNational Institute for Health Research (NIHR) Mental Health Biomedical Research Centre at South London and Maudsley NHS Foundation Trust and King's College London, London, United Kingdom.
Perminder SachdevCentre for Healthy Brain Ageing, School of Psychiatry, University of New South Wales, Sydney, New South Wales, 2052, Australia.
Anne-Marthe SandersNORMENT, K.G. Jebsen Centre for Psychosis Research, Institute of Clinical Medicine, University of Oslo and Division of Mental Health and Addiction, Oslo University Hospital, Oslo, Norway.
Sigrid B SandoDepartment of Neuroscience, Faculty of Medicine, Norwegian University of Science and Technology, Trondheim, Norway.
Lianne SchmaalOrygen, The National Centre of Excellence in Youth Mental Health, 35 Poplar Road, 3502, Parkville, New Mexico, Australia.
Peter R SchofieldNeuroscience Research Australia, Randwick, Australia.
Andrew J SchorkCenter for Multimodal Imaging and Genetics, University of California San Diego, La Jolla, USA.
Gunter SchumannMedical Research Council - Social, Genetic and Developmental Psychiatry Centre, Institute of Psychiatry, Psychology & Neuroscience, King's College London, London, United Kingdom.
Jean ShinThe Hospital for Sick Children, University of Toronto, Toronto, M5G 1X8, Canada.
Elena ShumskayaDepartment of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
Sanjay SisodiyaDepartment of Clinical and Experimental Epilepsy, UCL Institute of Neurology, London, UK.
Vidar M SteenNORMENT - KG Jebsen Centre, Department of Clinical Science, University of Bergen, Jonas Lies veg 87, 5021, Bergen, Norway.
Dan J SteinDept of Psychiatry, University of Cape Town, Groote Schuur Hospital, Anzio Rd, 7925, Cape Town, South Africa.
Stacy SteinbergdeCODE Genetics/Amgen, Reykjavik, Iceland.
Lachlan StrikeQueensland Brain Institute, University of Queensland, St Lucia, Queensland, Australia.
Alexander TeumerInstitute for Community Medicine, University Medicine Greifswald, Greifswald, Germany.
Anbu ThalamuthuCentre for Healthy Brain Ageing, School of Psychiatry, University of New South Wales, Sydney, New South Wales, 2052, Australia.
Diana Tordesillas-GutierrezCIBERSAM (Centro Investigación Biomédica en Red Salud Mental), Santander, 39011, Spain.
Jessica TurnerDepartment of Psychology, Georgia State University, Atlanta, GA, USA.
Torill UelandNORMENT, K.G. Jebsen Centre for Psychosis Research, Institute of Clinical Medicine, University of Oslo and Division of Mental Health and Addiction, Oslo University Hospital, Oslo, Norway.
Anne UhlmannDepartment of Psychiatry and Mental Health, Anzio Road, 7925, Cape Town, South Africa.
Magnus O UlfarssondeCODE Genetics/Amgen, Reykjavik, Iceland.
Dennis van 't EntBiological Psychology, Vrije Universiteit Amsterdam, van Boechorststraat 1, 1081 BT, Amsterdam, The Netherlands.
Dennis van der MeerNORMENT, K.G. Jebsen Centre for Psychosis Research, Institute of Clinical Medicine, University of Oslo and Division of Mental Health and Addiction, Oslo University Hospital, Oslo, Norway.
Neeltje E M van HarenDepartment of Psychiatry, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, The Netherlands.
Anja VaskinnNORMENT, K.G. Jebsen Centre for Psychosis Research, Institute of Clinical Medicine, University of Oslo and Division of Mental Health and Addiction, Oslo University Hospital, Oslo, Norway.
Evangelos VassosMRC Social, Genetic and Developmental Psychiatry Centre, Institute of Psychiatry, Psychology and Neuroscience, King's College London, 16 De Crespigny Park, SE5 8AF, London, UK.
G Bragi WaltersdeCODE Genetics/Amgen, Reykjavik, Iceland.
Yunpeng WangNORMENT, K.G. Jebsen Centre for Psychosis Research, Institute of Clinical Medicine, University of Oslo and Division of Mental Health and Addiction, Oslo University Hospital, Oslo, Norway.
Wei WenCentre for Healthy Brain Ageing, School of Psychiatry, University of New South Wales, Sydney, New South Wales, 2052, Australia.
Christopher D WhelanMolecular and Cellular Therapeutics, Royal College of Surgeons in Ireland, 123 St. Stephens Green, D02 YN77, Dublin, Ireland.
Katharina WittfeldGerman Center for Neurodegenerative Diseases (DZNE), Rostock, Greifswald, Greifswald, Germany.
Margie WrightQIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia.
Hidenaga YamamoriDepartment of Psychiatry, Osaka University Graduate School of Medicine, Suita, Osaka, Japan.
Tetyana ZayatsK.G. Jebsen Centre for Neuropsychiatric Disorders, University of Bergen, Bergen, Norway.
Ingrid AgartzNORMENT, K.G. Jebsen Centre for Psychosis Research, Institute of Clinical Medicine, University of Oslo and Division of Mental Health and Addiction, Oslo University Hospital, Oslo, Norway.
Lars T WestlyeNORMENT, K.G. Jebsen Centre for Psychosis Research, Institute of Clinical Medicine, University of Oslo and Division of Mental Health and Addiction, Oslo University Hospital, Oslo, Norway.ORCID http://orcid.org/0000-0001-8644-956X
Sébastien JacquemontCHU Sainte-Justine Research Center, Université de Montréal, Montréal, QC, Canada.
Srdjan DjurovicNORMENT - KG Jebsen Centre, Department of Clinical Science, University of Bergen, Jonas Lies veg 87, 5021, Bergen, Norway.
Hreinn StefánssondeCODE Genetics/Amgen, Reykjavik, Iceland.
Kári StefánssondeCODE Genetics/Amgen, Reykjavik, Iceland.
Paul ThompsonImaging Genetics Center, Mark and Mary Stevens Neuroimaging and Informatics Institute, Keck School of Medicine of the University of Southern California, Marina del Rey, USA.
Ole A AndreassenNORMENT, K.G. Jebsen Centre for Psychosis Research, Institute of Clinical Medicine, University of Oslo and Division of Mental Health and Addiction, Oslo University Hospital, Oslo, Norway. andreassen@medisin.uio.no.ORCID http://orcid.org/0000-0002-4461-3568
16p11.2 European Consortium, for the ENIGMA-CNV working group

Funding

ZD6416 Analgesic--Painful Distal Symmetrical PolyneuropaM01RR001066 · NCRR · MASSACHUSETTS GENERAL HOSPITAL · PI BROWN, EMERY N · 1985 to 2008
$37.4M
FUNCTION BIRNU24RR021992 · NCRR · UNIVERSITY OF CALIFORNIA-IRVINE · PI POTKIN, STEVEN G · 2006 to 2010
$25.0M
ULTRAHIGH FIELD TECHNOLOGY FOR FUNCTIONAL IMAGINGP41RR014075 · NCRR · MASSACHUSETTS GENERAL HOSPITAL · PI HAMALAINEN, MATTI · 1999 to 2011
$16.4M
Transcranial Direct Current Stimulation for Treatment of Auditory Verbal HalluciP20GM103472 · NIGMS · THE MIND RESEARCH NETWORK · PI ABBOTT, CHRISTOPHER C · 2012 to 2017
$14.3M
Training U54EB020403 · NIBIB · UNIVERSITY OF SOUTHERN CALIFORNIA · PI THOMPSON, PAUL M · 2014 to 2018
$10.1M
Multivariate methods for identifying multitask/multimodal brain imaging biomarkersR01EB006841 · NIBIB · THE MIND RESEARCH NETWORK · PI VINCE D CALHOUN, Sergey Plis · 2007 to 2026
$9.8M
NEURAL MECHANISMS OF SCHIZOPHRENIAP20RR021938 · NCRR · THE MIND RESEARCH NETWORK · PI HANLON, FAITH MARIE · 2008 to 2011
$9.4M
Integration of Genomics & Transcriptomics in Normal Twins & Major DepressionRC2MH089951 · NIMH · UNIV OF NORTH CAROLINA CHAPEL HILL · PI SULLIVAN, PATRICK F · 2009 to 2010
$6.5M
Informed Data-Driven Fusion of Behavior, Brain Function, and GenesR01EB005846 · NIBIB · THE MIND RESEARCH NETWORK · PI CALHOUN, VINCE D · 2005 to 2016
$5.5M
Genetics of Brain Structure and FunctionR01MH078111 · NIMH · TEXAS BIOMEDICAL RESEARCH INSTITUTE · PI BLANGERO, JOHN · 2006 to 2014
$4.5M
Genomics of Developmental Trajectories in TwinsRC2MH089995 · NIMH · UNIVERSITY OF VERMONT & ST AGRIC COLLEGE · PI HUDZIAK, JAMES J. · 2009 to 2010
$3.8M
Genetics of Brain Structure and Function: Genome-Wide AssociationR01MH083824 · NIMH · YALE UNIVERSITY · PI GLAHN, DAVID C · 2008 to 2013
$3.3M
Medical Research Council MR/N000390/1Medical Research Council MR/N027558/1NCRR NIH HHS M01 RR001066NCRR NIH HHS P20 RR021938NCRR NIH HHS P41 RR014075NCRR NIH HHS U24 RR021992NIBIB NIH HHS R01 EB000840NIBIB NIH HHS R01 EB005846NIBIB NIH HHS R01 EB006841NIBIB NIH HHS U54 EB020403NICHD NIH HHS R01 HD050735NIGMS NIH HHS P20 GM103472NIMH NIH HHS K08 MH068540NIMH NIH HHS R01 MH078111NIMH NIH HHS R01 MH081802NIMH NIH HHS R01 MH083824NIMH NIH HHS R01 MH085772NIMH NIH HHS RC1 MH089257NIMH NIH HHS RC2 MH089951NIMH NIH HHS RC2 MH089995
6 · The paper itself

Abstract

Carriers of large recurrent copy number variants (CNVs) have a higher risk of developing neurodevelopmental disorders. The 16p11.2 distal CNV predisposes carriers to e.g., autism spectrum disorder and schizophrenia. We compared subcortical brain volumes of 12 16p11.2 distal deletion and 12 duplication carriers to 6882 non-carriers from the large-scale brain Magnetic Resonance Imaging collaboration, ENIGMA-CNV. After stringent CNV calling procedures, and standardized FreeSurfer image analysis, we found negative dose-response associations with copy number on intracranial volume and on regional caudate, pallidum and putamen volumes (β = -0.71 to -1.37; P < 0.0005). In an independent sample, consistent results were obtained, with significant effects in the pallidum (β = -0.95, P = 0.0042). The two data sets combined showed significant negative dose-response for the accumbens, caudate, pallidum, putamen and ICV (P = 0.0032, 8.9 × 10

Indexed as

AdultAutism Spectrum DisorderAutistic DisorderBasal GangliaBrainChromosome DeletionChromosome DisordersChromosome DuplicationChromosomes, Human, Pair 16Databases, FactualDNA Copy Number VariationsFemaleGlobus PallidusHumansImage Processing, Computer-AssistedIntellectual Disability

Identifiers

PMID30283035
PMCPMC7042770

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