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000155631 0247_ $$2doi$$a10.1002/hbm.25354
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000155631 0247_ $$2ISSN$$a1065-9471
000155631 0247_ $$2ISSN$$a1097-0193
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000155631 037__ $$aDZNE-2021-00799
000155631 041__ $$aEnglish
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000155631 1001_ $$00000-0001-7297-7855$$aSønderby, Ida E$$b0$$eCorresponding author
000155631 245__ $$aEffects of copy number variations on brain structure and risk for psychiatric illness: Large-scale studies from the ENIGMA working groups on CNVs.
000155631 260__ $$aNew York, NY$$bWiley-Liss$$c2022
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000155631 500__ $$a(CC BY)
000155631 520__ $$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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000155631 650_7 $$2Other$$abrain structural imaging
000155631 650_7 $$2Other$$acopy number variant
000155631 650_7 $$2Other$$adiffusion tensor imaging
000155631 650_7 $$2Other$$aevolution
000155631 650_7 $$2Other$$agenetics-first approach
000155631 650_7 $$2Other$$aneurodevelopmental disorders
000155631 650_7 $$2Other$$apsychiatric disorders
000155631 650_2 $$2MeSH$$aBrain: diagnostic imaging
000155631 650_2 $$2MeSH$$aBrain: growth & development
000155631 650_2 $$2MeSH$$aBrain: pathology
000155631 650_2 $$2MeSH$$aDNA Copy Number Variations
000155631 650_2 $$2MeSH$$aHumans
000155631 650_2 $$2MeSH$$aMagnetic Resonance Imaging
000155631 650_2 $$2MeSH$$aMental Disorders: diagnostic imaging
000155631 650_2 $$2MeSH$$aMental Disorders: genetics
000155631 650_2 $$2MeSH$$aMental Disorders: pathology
000155631 650_2 $$2MeSH$$aMulticenter Studies as Topic
000155631 650_2 $$2MeSH$$aNeurodevelopmental Disorders: diagnostic imaging
000155631 650_2 $$2MeSH$$aNeurodevelopmental Disorders: genetics
000155631 650_2 $$2MeSH$$aNeurodevelopmental Disorders: pathology
000155631 650_2 $$2MeSH$$aNeuroimaging
000155631 7001_ $$00000-0003-2921-3408$$aChing, Christopher R K$$b1
000155631 7001_ $$00000-0002-0046-4070$$aThomopoulos, Sophia I$$b2
000155631 7001_ $$avan der Meer, Dennis$$b3
000155631 7001_ $$aSun, Daqiang$$b4
000155631 7001_ $$aVillalon-Reina, Julio E$$b5
000155631 7001_ $$aAgartz, Ingrid$$b6
000155631 7001_ $$aAmunts, Katrin$$b7
000155631 7001_ $$aArango, Celso$$b8
000155631 7001_ $$aArmstrong, Nicola J$$b9
000155631 7001_ $$aAyesa-Arriola, Rosa$$b10
000155631 7001_ $$aBakker, Geor$$b11
000155631 7001_ $$aBassett, Anne S$$b12
000155631 7001_ $$aBoomsma, Dorret I$$b13
000155631 7001_ $$aBülow, Robin$$b14
000155631 7001_ $$aButcher, Nancy J$$b15
000155631 7001_ $$aCalhoun, Vince D$$b16
000155631 7001_ $$aCaspers, Svenja$$b17
000155631 7001_ $$aChow, Eva W C$$b18
000155631 7001_ $$aCichon, Sven$$b19
000155631 7001_ $$aCiufolini, Simone$$b20
000155631 7001_ $$aCraig, Michael C$$b21
000155631 7001_ $$aCrespo-Facorro, Benedicto$$b22
000155631 7001_ $$aCunningham, Adam C$$b23
000155631 7001_ $$aDale, Anders M$$b24
000155631 7001_ $$aDazzan, Paola$$b25
000155631 7001_ $$ade Zubicaray, Greig I$$b26
000155631 7001_ $$aDjurovic, Srdjan$$b27
000155631 7001_ $$aDoherty, Joanne L$$b28
000155631 7001_ $$aDonohoe, Gary$$b29
000155631 7001_ $$aDraganski, Bogdan$$b30
000155631 7001_ $$aDurdle, Courtney A$$b31
000155631 7001_ $$aEhrlich, Stefan$$b32
000155631 7001_ $$aEmanuel, Beverly S$$b33
000155631 7001_ $$aEspeseth, Thomas$$b34
000155631 7001_ $$aFisher, Simon E$$b35
000155631 7001_ $$aGe, Tian$$b36
000155631 7001_ $$aGlahn, David C$$b37
000155631 7001_ $$0P:(DE-2719)2811781$$aGrabe, Hans J$$b38$$udzne
000155631 7001_ $$aGur, Raquel E$$b39
000155631 7001_ $$aGutman, Boris A$$b40
000155631 7001_ $$aHaavik, Jan$$b41
000155631 7001_ $$aHåberg, Asta K$$b42
000155631 7001_ $$aHansen, Laura A$$b43
000155631 7001_ $$aHashimoto, Ryota$$b44
000155631 7001_ $$aHibar, Derrek P$$b45
000155631 7001_ $$aHolmes, Avram J$$b46
000155631 7001_ $$aHottenga, Jouke-Jan$$b47
000155631 7001_ $$aHulshoff Pol, Hilleke E$$b48
000155631 7001_ $$aJalbrzikowski, Maria$$b49
000155631 7001_ $$aKnowles, Emma E M$$b50
000155631 7001_ $$aKushan, Leila$$b51
000155631 7001_ $$aLinden, David E J$$b52
000155631 7001_ $$aLiu, Jingyu$$b53
000155631 7001_ $$aLundervold, Astri J$$b54
000155631 7001_ $$aMartin-Brevet, Sandra$$b55
000155631 7001_ $$aMartínez, Kenia$$b56
000155631 7001_ $$aMather, Karen A$$b57
000155631 7001_ $$aMathias, Samuel R$$b58
000155631 7001_ $$aMcDonald-McGinn, Donna M$$b59
000155631 7001_ $$aMcRae, Allan F$$b60
000155631 7001_ $$aMedland, Sarah E$$b61
000155631 7001_ $$aMoberget, Torgeir$$b62
000155631 7001_ $$aModenato, Claudia$$b63
000155631 7001_ $$aMonereo Sánchez, Jennifer$$b64
000155631 7001_ $$aMoreau, Clara A$$b65
000155631 7001_ $$aMühleisen, Thomas W$$b66
000155631 7001_ $$aPaus, Tomas$$b67
000155631 7001_ $$aPausova, Zdenka$$b68
000155631 7001_ $$aPrieto, Carlos$$b69
000155631 7001_ $$aRagothaman, Anjanibhargavi$$b70
000155631 7001_ $$aReinbold, Céline S$$b71
000155631 7001_ $$aReis Marques, Tiago$$b72
000155631 7001_ $$aRepetto, Gabriela M$$b73
000155631 7001_ $$aReymond, Alexandre$$b74
000155631 7001_ $$aRoalf, David R$$b75
000155631 7001_ $$aRodriguez-Herreros, Borja$$b76
000155631 7001_ $$aRucker, James J$$b77
000155631 7001_ $$aSachdev, Perminder S$$b78
000155631 7001_ $$aSchmitt, James E$$b79
000155631 7001_ $$aSchofield, Peter R$$b80
000155631 7001_ $$aSilva, Ana I$$b81
000155631 7001_ $$aStefansson, Hreinn$$b82
000155631 7001_ $$aStein, Dan J$$b83
000155631 7001_ $$aTamnes, Christian K$$b84
000155631 7001_ $$aTordesillas-Gutiérrez, Diana$$b85
000155631 7001_ $$aUlfarsson, Magnus O$$b86
000155631 7001_ $$aVajdi, Ariana$$b87
000155631 7001_ $$avan 't Ent, Dennis$$b88
000155631 7001_ $$avan den Bree, Marianne B M$$b89
000155631 7001_ $$aVassos, Evangelos$$b90
000155631 7001_ $$aVázquez-Bourgon, Javier$$b91
000155631 7001_ $$aVila-Rodriguez, Fidel$$b92
000155631 7001_ $$aWalters, G Bragi$$b93
000155631 7001_ $$aWen, Wei$$b94
000155631 7001_ $$aWestlye, Lars T$$b95
000155631 7001_ $$0P:(DE-2719)2810491$$aWittfeld, Katharina$$b96$$udzne
000155631 7001_ $$aZackai, Elaine H$$b97
000155631 7001_ $$aStefánsson, Kári$$b98
000155631 7001_ $$aJacquemont, Sebastien$$b99
000155631 7001_ $$aThompson, Paul M$$b100
000155631 7001_ $$aBearden, Carrie E$$b101
000155631 7001_ $$0P:(DE-2719)9001146$$aAndreassen, Ole A$$b102$$udzne
000155631 7001_ $$0P:(DE-HGF)0$$aGroup, ENIGMA-CNV Working$$b103$$eCollaboration Author
000155631 7001_ $$0P:(DE-HGF)0$$a2 Deletion Syndrome Working Group, ENIGMA 22q11.$$b104$$eCollaboration Author
000155631 7001_ $$aBernard, Manon$$b105
000155631 7001_ $$aBlackburn, Nicholas B$$b106
000155631 7001_ $$aBøen, Rune$$b107
000155631 7001_ $$ade Geus, Eco$$b108
000155631 7001_ $$ade Zwarte, Sonja M C$$b109
000155631 7001_ $$aForti, Marta Di$$b110
000155631 7001_ $$aFrei, Oleksandr$$b111
000155631 7001_ $$aFukunaga, Masaki$$b112
000155631 7001_ $$aHehir-Kwa, Jayne Y$$b113
000155631 7001_ $$aHillegers, Manon H J$$b114
000155631 7001_ $$aHoffmann, Per$$b115
000155631 7001_ $$aHomuth, Georg$$b116
000155631 7001_ $$aJahanshad, Neda$$b117
000155631 7001_ $$aKoops, Sanne$$b118
000155631 7001_ $$aKumar, Kuldeep$$b119
000155631 7001_ $$aKikuchi, Masataka$$b120
000155631 7001_ $$aLe Hellard, Stephanie$$b121
000155631 7001_ $$aLeu, Costin$$b122
000155631 7001_ $$aMurray, Robin M$$b123
000155631 7001_ $$aNaerland, Terje$$b124
000155631 7001_ $$aNyberg, Lars$$b125
000155631 7001_ $$aOphoff, Roel A$$b126
000155631 7001_ $$aPike, G Bruce$$b127
000155631 7001_ $$aSando, Sigrid B$$b128
000155631 7001_ $$aShin, Jean$$b129
000155631 7001_ $$aShumskaya, Elena$$b130
000155631 7001_ $$aSisodiya, Sanjay M$$b131
000155631 7001_ $$aSteen, Vidar M$$b132
000155631 7001_ $$aTeumer, Alexander$$b133
000155631 7001_ $$aUhlmann, Anne$$b134
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000155631 7001_ $$avan Amelsvoort, Therese$$b156
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