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000897223 1001_ $$00000-0001-7297-7855$$aSønderby, Ida E.$$b0$$eCorresponding author
000897223 245__ $$aEffects of copy number variations on brain structure and risk for psychiatric illness: Large-scale studies from the ENIGMA Working Groups on CNVs
000897223 260__ $$aNew York, NY$$bWiley-Liss$$c2021
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000897223 520__ $$aThe Enhancing Neuroimaging Genetics through Meta-Analysis copy number variant (ENIGMA-CNV) and 22q11.2 Deletion Syndrome Working Groups (22q-ENIGMA WGs) were created to gain insight into the involvement of genetic factors in human brain development and related cognitive, psychiatric and behavioral manifestations. To that end, the ENIGMA-CNV WG has collated CNV and magnetic resonance imaging (MRI) data from ~49,000 individuals across 38 global research sites, yielding one of the largest studies to date on the effects of CNVs on brain structures in the general population. The 22q-ENIGMA WG includes 12 international research centers that assessed over 533 individuals with a confirmed 22q11.2 deletion syndrome, 40 with 22q11.2 duplications, and 333 typically developing controls, creating the largest-ever 22q11.2 CNV neuroimaging data set. In this review, we outline the ENIGMA infrastructure and procedures for multi-site analysis of CNVs and MRI data. So far, ENIGMA has identified effects of the 22q11.2, 16p11.2 distal, 15q11.2, and 1q21.1 distal CNVs on subcortical and cortical brain structures. Each CNV is associated with differences in cognitive, neurodevelopmental and neuropsychiatric traits, with characteristic patterns of brain structural abnormalities. Evidence of gene-dosage effects on distinct brain regions also emerged, providing further insight into genotype-phenotype relationships. Taken together, these results offer a more comprehensive picture of molecular mechanisms involved in typical and atypical brain development. This ‘genotype-first’ approach also contributes to our understanding of the etiopathogenesis of brain disorders. Finally, we outline future directions to better understand effects of CNVs on brain structure and behavior.
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000897223 7001_ $$0P:(DE-HGF)0$$aChing, Christopher RK$$b1
000897223 7001_ $$0P:(DE-HGF)0$$aThomopoulos, Sophia I$$b2
000897223 7001_ $$0P:(DE-HGF)0$$avan der Meer, Dennis$$b3
000897223 7001_ $$0P:(DE-HGF)0$$aVillalon-Reina, Julio E.$$b4
000897223 7001_ $$0P:(DE-HGF)0$$aAgartz, Ingrid$$b5
000897223 7001_ $$0P:(DE-Juel1)131631$$aAmunts, Katrin$$b6
000897223 7001_ $$0P:(DE-HGF)0$$aArango, Celso$$b7
000897223 7001_ $$0P:(DE-HGF)0$$aArmstrong, Nicola J$$b8
000897223 7001_ $$aAyesa-Arriola, Rosa$$b9
000897223 7001_ $$aBakker, Geor$$b10
000897223 7001_ $$aBassett, Anne S$$b11
000897223 7001_ $$aBoomsma, Dorret$$b12
000897223 7001_ $$aBülow, Robin$$b13
000897223 7001_ $$00000-0002-5152-0108$$aButcher, Nancy J.$$b14
000897223 7001_ $$aCalhoun, Vince D$$b15
000897223 7001_ $$aCaspers, Svenja$$b16
000897223 7001_ $$aChow, Eva WC$$b17
000897223 7001_ $$0P:(DE-Juel1)140234$$aCichon, Sven$$b18
000897223 7001_ $$aCiufolini, Simone$$b19
000897223 7001_ $$00000-0002-5018-5520$$aCraig, Michael$$b20
000897223 7001_ $$aCrespo-Facorro, Benedicto$$b21
000897223 7001_ $$00000-0002-9791-7813$$aCunningham, Adam$$b22
000897223 7001_ $$aDale, Anders M$$b23
000897223 7001_ $$aDazzan, Paola$$b24
000897223 7001_ $$ade Zubicaray, Greig Ian$$b25
000897223 7001_ $$aDjurovic, Srdjan$$b26
000897223 7001_ $$aDoherty, Joanne L$$b27
000897223 7001_ $$aDonohoe, Gary$$b28
000897223 7001_ $$aDraganski, Bogdan$$b29
000897223 7001_ $$00000-0002-8582-0977$$aDurdle, Courtney$$b30
000897223 7001_ $$aEhrlich, Stefan$$b31
000897223 7001_ $$aEmanuel, Beverly S$$b32
000897223 7001_ $$aEspeseth, Thomas$$b33
000897223 7001_ $$aFisher, Simon$$b34
000897223 7001_ $$aGan, Tian$$b35
000897223 7001_ $$aGlahn, David C.$$b36
000897223 7001_ $$aGrabe, Hans J.$$b37
000897223 7001_ $$aGur, Raquel E.$$b38
000897223 7001_ $$aGutman, Boris A$$b39
000897223 7001_ $$aHaakvik, Jan$$b40
000897223 7001_ $$aHåberg, Asta$$b41
000897223 7001_ $$aHansen, Laura A$$b42
000897223 7001_ $$aHashimoto, Ryota$$b43
000897223 7001_ $$aHibar, Derrek P.$$b44
000897223 7001_ $$aHolmes, Avram J$$b45
000897223 7001_ $$aHottenga, Jouke-Jan$$b46
000897223 7001_ $$aPol, Hilleke E. Hulshoff$$b47
000897223 7001_ $$00000-0001-6574-9432$$aJalbrzikowski, Maria$$b48
000897223 7001_ $$aKnowles, Emma EM$$b49
000897223 7001_ $$aKushan, Leila$$b50
000897223 7001_ $$aLinden, David$$b51
000897223 7001_ $$aLundervold, Astri J.$$b52
000897223 7001_ $$aMartin-Brevet, Sandra$$b53
000897223 7001_ $$aMartínez, Kenia$$b54
000897223 7001_ $$aMather, Karen A$$b55
000897223 7001_ $$aMathias, Samuel R.$$b56
000897223 7001_ $$aMcDonald-McGinn, Donna M$$b57
000897223 7001_ $$aMcRae, Allan F$$b58
000897223 7001_ $$00000-0003-1382-380X$$aMedland, Sarah$$b59
000897223 7001_ $$aMoberget, Torgeir$$b60
000897223 7001_ $$aModenato, Claudia$$b61
000897223 7001_ $$aSánchez, Jennifer Monereo$$b62
000897223 7001_ $$aMoreau, Clara$$b63
000897223 7001_ $$0P:(DE-Juel1)156419$$aMühleisen, Thomas W$$b64
000897223 7001_ $$aPaus, Tomáš$$b65
000897223 7001_ $$0P:(DE-HGF)0$$aPausova, Zdenka$$b66
000897223 7001_ $$0P:(DE-HGF)0$$aPrieto, Carlos$$b67
000897223 7001_ $$0P:(DE-HGF)0$$aRagothaman, Anjanibhargavi$$b68
000897223 7001_ $$aReinbold, Céline S$$b69
000897223 7001_ $$aMarques, Tiago Reis$$b70
000897223 7001_ $$aRepetto, Gabriela M$$b71
000897223 7001_ $$aReymond, Alexandre$$b72
000897223 7001_ $$aRoalf, David R$$b73
000897223 7001_ $$aRodriguez-Herreros, Borja$$b74
000897223 7001_ $$aRucker, James J$$b75
000897223 7001_ $$aSachdev, Perminder S$$b76
000897223 7001_ $$aSchmitt, James E$$b77
000897223 7001_ $$aSchofield, Peter R$$b78
000897223 7001_ $$aSilva, Ana I$$b79
000897223 7001_ $$aStefansson, Hreinn$$b80
000897223 7001_ $$00000-0001-7218-7810$$aStein, Dan J.$$b81
000897223 7001_ $$aSun, Daqiang$$b82
000897223 7001_ $$00000-0002-9191-6764$$aTamnes, Christian K.$$b83
000897223 7001_ $$aTordesillas-Gutiérrez, Diana$$b84
000897223 7001_ $$aUlfarsson, Magnus O$$b85
000897223 7001_ $$aVajdi, Ariana$$b86
000897223 7001_ $$avan 't Ent, Dennis$$b87
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000897223 7001_ $$aVázquez-Bourgon, Javier$$b89
000897223 7001_ $$aVila-Rodriguez, fidel$$b90
000897223 7001_ $$00000-0002-5415-6487$$aWalters, G. Bragi$$b91
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000897223 7001_ $$aThompson, Paul$$b98
000897223 7001_ $$aBearden, Carrie E.$$b99
000897223 7001_ $$aAndreassen, Ole A.$$b100
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