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@ARTICLE{Snderby:155631,
author = {Sønderby, Ida E and Ching, Christopher R K and
Thomopoulos, Sophia I and van der Meer, Dennis and Sun,
Daqiang and Villalon-Reina, Julio E and Agartz, Ingrid and
Amunts, Katrin and Arango, Celso and Armstrong, Nicola J and
Ayesa-Arriola, Rosa and Bakker, Geor and Bassett, Anne S and
Boomsma, Dorret I and Bülow, Robin and Butcher, Nancy J and
Calhoun, Vince D and Caspers, Svenja and Chow, Eva W C and
Cichon, Sven and Ciufolini, Simone and Craig, Michael C and
Crespo-Facorro, Benedicto and Cunningham, Adam C and Dale,
Anders M and Dazzan, Paola and de Zubicaray, Greig I and
Djurovic, Srdjan and Doherty, Joanne L and Donohoe, Gary and
Draganski, Bogdan and Durdle, Courtney A and Ehrlich, Stefan
and Emanuel, Beverly S and Espeseth, Thomas and Fisher,
Simon E and Ge, Tian and Glahn, David C and Grabe, Hans J
and Gur, Raquel E and Gutman, Boris A and Haavik, Jan and
Håberg, Asta K and Hansen, Laura A and Hashimoto, Ryota and
Hibar, Derrek P and Holmes, Avram J and Hottenga, Jouke-Jan
and Hulshoff Pol, Hilleke E and Jalbrzikowski, Maria and
Knowles, Emma E M and Kushan, Leila and Linden, David E J
and Liu, Jingyu and Lundervold, Astri J and Martin-Brevet,
Sandra and Martínez, Kenia and Mather, Karen A and Mathias,
Samuel R and McDonald-McGinn, Donna M and McRae, Allan F and
Medland, Sarah E and Moberget, Torgeir and Modenato, Claudia
and Monereo Sánchez, Jennifer and Moreau, Clara A and
Mühleisen, Thomas W and Paus, Tomas and Pausova, Zdenka and
Prieto, Carlos and Ragothaman, Anjanibhargavi and Reinbold,
Céline S and Reis Marques, Tiago and Repetto, Gabriela M
and Reymond, Alexandre and Roalf, David R and
Rodriguez-Herreros, Borja and Rucker, James J and Sachdev,
Perminder S and Schmitt, James E and Schofield, Peter R and
Silva, Ana I and Stefansson, Hreinn and Stein, Dan J and
Tamnes, Christian K and Tordesillas-Gutiérrez, Diana and
Ulfarsson, Magnus O and Vajdi, Ariana and van 't Ent, Dennis
and van den Bree, Marianne B M and Vassos, Evangelos and
Vázquez-Bourgon, Javier and Vila-Rodriguez, Fidel and
Walters, G Bragi and Wen, Wei and Westlye, Lars T and
Wittfeld, Katharina and Zackai, Elaine H and Stefánsson,
Kári and Jacquemont, Sebastien and Thompson, Paul M and
Bearden, Carrie E and Andreassen, Ole A and Bernard, Manon
and Blackburn, Nicholas B and Bøen, Rune and de Geus, Eco
and de Zwarte, Sonja M C and Forti, Marta Di and Frei,
Oleksandr and Fukunaga, Masaki and Hehir-Kwa, Jayne Y and
Hillegers, Manon H J and Hoffmann, Per and Homuth, Georg and
Jahanshad, Neda and Koops, Sanne and Kumar, Kuldeep and
Kikuchi, Masataka and Le Hellard, Stephanie and Leu, Costin
and Murray, Robin M and Naerland, Terje and Nyberg, Lars and
Ophoff, Roel A and Pike, G Bruce and Sando, Sigrid B and
Shin, Jean and Shumskaya, Elena and Sisodiya, Sanjay M and
Steen, Vidar M and Teumer, Alexander and Uhlmann, Anne and
Wright, Margaret J and Antshel, Kevin M and Campbell, Linda
E and Crossley, Nicolas A and Crowley, T Blaine and Daly,
Eileen and Fiksinski, Ania M and Forsyth, Jennifer K and
Fremont, Wanda and Goodrich-Hunsaker, Naomi J and
Gudbrandsen, Maria and Jonas, Rachel K and Kates, Wendy R
and Lin, Amy and McCabe, Kathryn L and Moss, Hayley and
Murphy, Declan G and Murphy, Kieran C and Owen, Michael J
and Ruparel, Kosha and Simon, Tony J and van Amelsvoort,
Therese and Vorstman, Jacob A S},
collaboration = {Group, ENIGMA-CNV Working and 2 Deletion Syndrome Working
Group, ENIGMA 22q11.},
title = {{E}ffects of copy number variations on brain structure and
risk for psychiatric illness: {L}arge-scale studies from the
{ENIGMA} working groups on {CNV}s.},
journal = {Human brain mapping},
volume = {43},
number = {1},
issn = {1097-0193},
address = {New York, NY},
publisher = {Wiley-Liss},
reportid = {DZNE-2021-00799},
pages = {300-328},
year = {2022},
note = {(CC BY)},
abstract = {The 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.},
subtyp = {Review Article},
keywords = {Brain: diagnostic imaging / Brain: growth $\&$ development
/ Brain: pathology / DNA Copy Number Variations / Humans /
Magnetic Resonance Imaging / Mental Disorders: diagnostic
imaging / Mental Disorders: genetics / Mental Disorders:
pathology / Multicenter Studies as Topic /
Neurodevelopmental Disorders: diagnostic imaging /
Neurodevelopmental Disorders: genetics / Neurodevelopmental
Disorders: pathology / Neuroimaging / brain structural
imaging (Other) / copy number variant (Other) / diffusion
tensor imaging (Other) / evolution (Other) / genetics-first
approach (Other) / neurodevelopmental disorders (Other) /
psychiatric disorders (Other)},
cin = {AG Grabe},
ddc = {610},
cid = {I:(DE-2719)5000001},
pnm = {353 - Clinical and Health Care Research (POF4-353)},
pid = {G:(DE-HGF)POF4-353},
typ = {PUB:(DE-HGF)16},
pmc = {pmc:PMC8675420},
pubmed = {pmid:33615640},
doi = {10.1002/hbm.25354},
url = {https://pub.dzne.de/record/155631},
}