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@ARTICLE{Committee:867608,
      author       = {Committee, Writing and van der Meer, Dennis and Sønderby,
                      Ida E and Kaufmann, Tobias and Walters, G Bragi and
                      Abdellaoui, Abdel and Ames, David and Amunts, Katrin and
                      Andersson, Micael and Armstrong, Nicola J and Bernard, Manon
                      and Blackburn, Nicholas B and Blangero, John and Boomsma,
                      Dorret I and Brodaty, Henry and Brouwer, Rachel M and
                      Bülow, Robin and Cahn, Wiepke and Calhoun, Vince D and
                      Caspers, Svenja and Cavalleri, Gianpiero L and Ching,
                      Christopher R K and Cichon, Sven and Ciufolini, Simone and
                      Corvin, Aiden and Crespo-Facorro, Benedicto and Curran,
                      Joanne E and Dalvie, Shareefa and Dazzan, Paola and de Geus,
                      Eco J C and de Zubicaray, Greig I and de Zwarte, Sonja M C
                      and Delanty, Norman and den Braber, Anouk and Desrivieres,
                      Sylvane and Di Forti, Marta and Doherty, Joanne L and
                      Donohoe, Gary and Ehrlich, Stefan and Eising, Else and
                      Espeseth, Thomas and Fisher, Simon E and Fladby, Tormod and
                      Frei, Oleksandr and Frouin, Vincent and Fukunaga, Masaki and
                      Gareau, Thomas and Glahn, David C and Grabe, Hans J and
                      Groenewold, Nynke A and Gústafsson, Ómar and Haavik, Jan
                      and Haberg, Asta K and Hashimoto, Ryota and Hehir-Kwa, Jayne
                      Y and Hibar, Derrek P and Hillegers, Manon H J and Hoffmann,
                      Per and Holleran, Laurena and Hottenga, Jouke-Jan and
                      Hulshoff Pol, Hilleke E and Ikeda, Masashi and Jacquemont,
                      Sébastien and Jahanshad, Neda and Jockwitz, Christiane and
                      Johansson, Stefan and Jönsson, Erik G and Kikuchi, Masataka
                      and Knowles, Emma E M and Kwok, John B and Le Hellard,
                      Stephanie and Linden, David E J and Liu, Jingyu and
                      Lundervold, Arvid and Lundervold, Astri J and Martin,
                      Nicholas G and Mather, Karen A and Mathias, Samuel R and
                      McMahon, Katie L and McRae, Allan F and Medland, Sarah E and
                      Moberget, Torgeir and Moreau, Clara and Morris, Derek W and
                      Mühleisen, Thomas W and Murray, Robin M and Nordvik, Jan E
                      and Nyberg, Lars and Olde Loohuis, Loes M and Ophoff, Roel A
                      and Owen, Michael J and Paus, Tomas and Pausova, Zdenka and
                      Peralta, Juan M and Pike, Bruce and Prieto, Carlos and
                      Quinlan, Erin Burke and Reinbold, Céline S and Reis
                      Marques, Tiago and Rucker, James J H and Sachdev, Perminder
                      S and Sando, Sigrid B and Schofield, Peter R and Schork,
                      Andrew J and Schumann, Gunter and Shin, Jean and Shumskaya,
                      Elena and Silva, Ana I and Sisodiya, Sanjay M and Steen,
                      Vidar M and Stein, Dan J and Strike, Lachlan T and Tamnes,
                      Christian K and Teumer, Alexander and Thalamuthu, Anbupalam
                      and Tordesillas-Gutiérrez, Diana and Uhlmann, Anne and
                      Úlfarsson, Magnús Ö and van 't Ent, Dennis and van den
                      Bree, Marianne B M and Vassos, Evangelos and Wen, Wei and
                      Wittfeld, Katharina and Wright, Margaret J and Zayats,
                      Tetyana and Dale, Anders M and Djurovic, Srdjan and Agartz,
                      Ingrid and Westlye, Lars T and Stefánsson, Hreinn and
                      Stefánsson, Kári and Thompson, Paul M and Andreassen, Ole
                      A},
      collaboration = {Group, ENIGMA-CNV Working},
      title        = {{A}ssociation of {C}opy {N}umber {V}ariation of the 15q11.2
                      {BP}1-{BP}2 {R}egion {W}ith {C}ortical and {S}ubcortical
                      {M}orphology and {C}ognition.},
      journal      = {JAMA psychiatry},
      volume       = {77},
      number       = {4},
      issn         = {2168-622X},
      address      = {Chicago, Ill.},
      publisher    = {AMA},
      reportid     = {FZJ-2019-06229},
      pages        = {420-430},
      year         = {2020},
      abstract     = {Recurrent microdeletions and duplications in the genomic
                      region 15q11.2 between breakpoints 1 (BP1) and 2 (BP2) are
                      associated with neurodevelopmental disorders. These
                      structural variants are present in $0.5\%$ to $1.0\%$ of the
                      population, making 15q11.2 BP1-BP2 the site of the most
                      prevalent known pathogenic copy number variation (CNV). It
                      is unknown to what extent this CNV influences brain
                      structure and affects cognitive abilities.To determine the
                      association of the 15q11.2 BP1-BP2 deletion and duplication
                      CNVs with cortical and subcortical brain morphology and
                      cognitive task performance.In this genetic association
                      study, T1-weighted brain magnetic resonance imaging were
                      combined with genetic data from the ENIGMA-CNV consortium
                      and the UK Biobank, with a replication cohort from Iceland.
                      In total, 203 deletion carriers, 45 247 noncarriers, and 306
                      duplication carriers were included. Data were collected from
                      August 2015 to April 2019, and data were analyzed from
                      September 2018 to September 2019.The associations of the CNV
                      with global and regional measures of surface area and
                      cortical thickness as well as subcortical volumes were
                      investigated, correcting for age, age2, sex, scanner, and
                      intracranial volume. Additionally, measures of cognitive
                      ability were analyzed in the full UK Biobank cohort.Of
                      45 756 included individuals, the mean (SD) age was 55.8
                      (18.3) years, and 23 754 $(51.9\%)$ were female. Compared
                      with noncarriers, deletion carriers had a lower surface area
                      (Cohen d = -0.41; SE, 0.08; P = 4.9 × 10-8),
                      thicker cortex (Cohen d = 0.36; SE, 0.07;
                      P = 1.3 × 10-7), and a smaller nucleus accumbens
                      (Cohen d = -0.27; SE, 0.07; P = 7.3 × 10-5).
                      There was also a significant negative dose response on
                      cortical thickness (β = -0.24; SE, 0.05;
                      P = 6.8 × 10-7). Regional cortical analyses showed
                      a localization of the effects to the frontal, cingulate, and
                      parietal lobes. Further, cognitive ability was lower for
                      deletion carriers compared with noncarriers on 5 of 7
                      tasks.These findings, from the largest CNV neuroimaging
                      study to date, provide evidence that 15q11.2 BP1-BP2
                      structural variation is associated with brain morphology and
                      cognition, with deletion carriers being particularly
                      affected. The pattern of results fits with known molecular
                      functions of genes in the 15q11.2 BP1-BP2 region and
                      suggests involvement of these genes in neuronal plasticity.
                      These neurobiological effects likely contribute to the
                      association of this CNV with neurodevelopmental disorders.},
      cin          = {INM-1},
      ddc          = {610},
      cid          = {I:(DE-Juel1)INM-1-20090406},
      pnm          = {571 - Connectivity and Activity (POF3-571)},
      pid          = {G:(DE-HGF)POF3-571},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:31665216},
      pmc          = {pmc:PMC6822096},
      UT           = {WOS:000525168200014},
      doi          = {10.1001/jamapsychiatry.2019.3779},
      url          = {https://juser.fz-juelich.de/record/867608},
}