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@ARTICLE{Snderby:897223,
author = {Sønderby, Ida E. and Ching, Christopher RK and
Thomopoulos, Sophia I and van der Meer, Dennis 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 and Bülow, Robin and Butcher, Nancy J. and
Calhoun, Vince D and Caspers, Svenja and Chow, Eva WC and
Cichon, Sven and Ciufolini, Simone and Craig, Michael and
Crespo-Facorro, Benedicto and Cunningham, Adam and Dale,
Anders M and Dazzan, Paola and de Zubicaray, Greig Ian and
Djurovic, Srdjan and Doherty, Joanne L and Donohoe, Gary and
Draganski, Bogdan and Durdle, Courtney and Ehrlich, Stefan
and Emanuel, Beverly S and Espeseth, Thomas and Fisher,
Simon and Gan, Tian and Glahn, David C. and Grabe, Hans J.
and Gur, Raquel E. and Gutman, Boris A and Haakvik, Jan and
Håberg, Asta and Hansen, Laura A and Hashimoto, Ryota and
Hibar, Derrek P. and Holmes, Avram J and Hottenga, Jouke-Jan
and Pol, Hilleke E. Hulshoff and Jalbrzikowski, Maria and
Knowles, Emma EM and Kushan, Leila and Linden, David 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 and Moberget, Torgeir and Modenato, Claudia and
Sánchez, Jennifer Monereo and Moreau, Clara and Mühleisen,
Thomas W and Paus, Tomáš and Pausova, Zdenka and Prieto,
Carlos and Ragothaman, Anjanibhargavi and Reinbold, Céline
S and Marques, Tiago Reis 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
Sun, Daqiang 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 BM 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 and Bearden, Carrie E. and Andreassen, Ole A.},
title = {{E}ffects of copy number variations on brain structure and
risk for psychiatric illness: {L}arge-scale studies from the
{ENIGMA} {W}orking {G}roups on {CNV}s},
journal = {Human brain mapping},
volume = {43},
number = {1},
issn = {1065-9471},
address = {New York, NY},
publisher = {Wiley-Liss},
reportid = {FZJ-2021-03685},
pages = {300-328},
year = {2021},
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.},
cin = {INM-1},
ddc = {610},
cid = {I:(DE-Juel1)INM-1-20090406},
pnm = {5251 - Multilevel Brain Organization and Variability
(POF4-525)},
pid = {G:(DE-HGF)POF4-5251},
typ = {PUB:(DE-HGF)16},
pubmed = {pmid:33615640},
UT = {WOS:000620229500001},
doi = {10.1002/hbm.25354},
url = {https://juser.fz-juelich.de/record/897223},
}