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dc.contributor.authorSønderby, Ida Elken
dc.contributor.authorChing, Christopher R. K.
dc.contributor.authorThomopoulos, Sophia I.
dc.contributor.authorvan der Meer, Dennis
dc.contributor.authorSun, Daqiang
dc.contributor.authorVillalon-Reina, Julio E.
dc.contributor.authorAgartz, Ingrid
dc.contributor.authorAmunts, Katrin
dc.contributor.authorArango, Celso
dc.contributor.authorArmstrong, Nicola J.
dc.contributor.authorAyesa-Arriola, Rosa
dc.contributor.authorBakker, Geor
dc.contributor.authorBassett, Anne S.
dc.contributor.authorBoomsma, Dorret I.
dc.contributor.authorBulow, Robin
dc.contributor.authorButcher, Nancy J.
dc.contributor.authorCalhoun, Vince D.
dc.contributor.authorCaspers, Svenja
dc.contributor.authorChow, Eva W. C.
dc.contributor.authorCichon, Sven
dc.contributor.authorCiufolini, Simone
dc.contributor.authorCraig, Michael C.
dc.contributor.authorCrespo-Facorro, Benedicto
dc.contributor.authorCunningham, Adam C.
dc.contributor.authorDale, Anders M.
dc.contributor.authorDazzan, Paola
dc.contributor.authorde Zubicaray, Greig I.
dc.contributor.authorDjurovic, Srdjan
dc.contributor.authorDoherty, Joanne L.
dc.contributor.authorDonohoe, Gary
dc.contributor.authorDraganski, Bogdan
dc.contributor.authorDurdle, Courtney A.
dc.contributor.authorEhrlich, Stefan
dc.contributor.authorEmanuel, Beverly S.
dc.contributor.authorEspeseth, Thomas
dc.contributor.authorFisher, Simon E.
dc.contributor.authorGe, Tian
dc.contributor.authorGlahn, David C.
dc.contributor.authorGrabe, Hans J.
dc.contributor.authorGur, Raquel E.
dc.contributor.authorGutman, Boris A.
dc.contributor.authorLundervold, Astri J.
dc.contributor.authorHaavik, Jan
dc.contributor.authorHåberg, Asta
dc.contributor.authorHansen, Laura A.
dc.contributor.authorMoberget, Torgeir
dc.contributor.authorSánchez, Jennifer Monereo
dc.contributor.authorReinbold, Céline Sonja
dc.contributor.authorTamnes, Christian Krog
dc.contributor.authorWestlye, Lars Tjelta
dc.contributor.authorAndreassen, Ole
dc.contributor.authoret al., ,
dc.description.abstractThe Enhancing NeuroImaging Genetics through Meta-Analysis copy number variant (ENIGMA-CNV) and 22q11.2 Deletion Syndrome Working Groups (22q-ENIGMA WGs) were created to gain insight into the involvement of genetic factors in human brain development and related cognitive, psychiatric and behavioral manifestations. To that end, the ENIGMA-CNV WG has collated CNV and magnetic resonance imaging (MRI) data from ~49,000 individuals across 38 global research sites, yielding one of the largest studies to date on the effects of CNVs on brain structures in the general population. The 22q-ENIGMA WG includes 12 international research centers that assessed over 533 individuals with a confirmed 22q11.2 deletion syndrome, 40 with 22q11.2 duplications, and 333 typically developing controls, creating the largest-ever 22q11.2 CNV neuroimaging data set. In this review, we outline the ENIGMA infrastructure and procedures for multi-site analysis of CNVs and MRI data. So far, ENIGMA has identified effects of the 22q11.2, 16p11.2 distal, 15q11.2, and 1q21.1 distal CNVs on subcortical and cortical brain structures. Each CNV is associated with differences in cognitive, neurodevelopmental and neuropsychiatric traits, with characteristic patterns of brain structural abnormalities. Evidence of gene-dosage effects on distinct brain regions also emerged, providing further insight into genotype–phenotype relationships. Taken together, these results offer a more comprehensive picture of molecular mechanisms involved in typical and atypical brain development. This “genotype-first” approach also contributes to our understanding of the etiopathogenesis of brain disorders. Finally, we outline future directions to better understand effects of CNVs on brain structure and behavior.en_US
dc.rightsNavngivelse 4.0 Internasjonal*
dc.titleEffects of copy number variations on brain structure and risk for psychiatric illness: Large-scale studies from the ENIGMA working groups on CNVsen_US
dc.typeJournal articleen_US
dc.typePeer revieweden_US
dc.rights.holderCopyright 2021 The Author(s)en_US
dc.source.journalHuman Brain Mappingen_US
dc.relation.projectStiftelsen Kristian Gerhard Jebsen: SKGJ-MED-021en_US
dc.relation.projectHelse Sør-Øst RHF: 2020060en_US
dc.relation.projectNorges forskningsråd: 223273en_US
dc.relation.projectNorges forskningsråd: 288083en_US
dc.identifier.citationHuman Brain Mapping. 2022, 43 (1), 300-328en_US

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