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@ARTICLE{Sonderby:894519,
      author       = {Sonderby, IE and Van der Meer, D. and Moreau, C. and
                      Kaufmann, T. and Bragi Walters, G. and Ellegaard, M. and
                      Abdellaoui, A. and Ames, D. and Amunts, K. and Andersson, M.
                      and Armstrong, NJ and Bernard, M. and Blackburn, NB and
                      Blangero, J. and Boomsma, DI and Brodaty, H. and Brouwer, RM
                      and Bülow, R. and Boen, R. and Cahn, W. and Calhoun, VD and
                      Caspers, S. and Ching, CRK and Cichon, S. and Cuifolini, S.
                      and Crespo-Facorro, B. and Curran, JE and Dale, AM and
                      Dalvie, S. and Dazzan, P. and De Geus, EJC and De Zubicaray,
                      GI and De Zwarte, SMC and Desrivieres, S. and Doherty, JL
                      and Donohoe, G. and Draganski, B. and Ehrlich, S. and
                      Eising, E. and Espeseth, T. and Fejgin, K. and Fisher, SE
                      and Fladby, T. and Frei, O. and Frouin, V. and Fukunaga, M.
                      and Gareau, T. and Ge, T. and Glahn, DC and Grabe, HJ and
                      Groenewold, NA and Gustafsson, O. and Haavik, J. and Haberg,
                      AK and Hall, J. and Hashimoto, R. and Hehir-Kwa, JY and
                      Hibar, DP and Hillegers, MHJ and Hoffmann, P. and Holleran,
                      L. and Holmes, AJ and Homuth, G. and Hottenga, JJ and
                      Hulshoff, Pol, HE and Ikeda, M. and Jahanshad, N. and
                      Jockwitz, C. and Johansson, S. and Jönsson, EG and
                      Jorgensen, NR and Kikuchi, M. and Knowles, EEM and Kumar, K.
                      and Le Hellard, S. and Leu, C. and Linden, DE and Liu, J.
                      and Lundervold, A. and Lundervold, AJ and Maillard, AM and
                      Martin, NG and Martin-Brevet, S. and Mather, KA and Mathias,
                      SR and McMahon, KL and McRae, AF and Medland, SE and
                      Meyer-Lindenberg, A. and Moberget, T. and Modenato, C. and
                      Monereo, Sánchez, J and Morris, DW and Mühleisen, TW and
                      Murray, RM and Nielsen, J. and Nordvik, JE and Nyberg, L.
                      and Olde Loohuis, LM and Ophoff, RA and Owen, MJ and Paus,
                      T. and Pausova, Z. and Peralta, JM and Pike, B. and Prieto,
                      C. and Quinlan, EB and Reinbold, CS and Reis, Marques, T and
                      Rucker, JJH and Sachdev, PS and Sando, SB and Schofield, PR
                      and Schork, AJ and Schumann, G. and Shin, J. and Shumskaya,
                      E. and Silva, AI and Sisodiya, SM and Steen, VM and Stein,
                      DJ and Strike, LT and Suzuki, IK and Tamnes, CK and Teumer,
                      A. and Thalamuthu, A. and Tordesillas-Gutiérrez, D. and
                      Uhlmann, A. and Úlfarsson, MÖ and van´t Ent, D. and von
                      den Bree, MBM and Vanderhaeghen, P. and Vassos, E. and Wen,
                      W. and Wittfeld, K. and Wright, MJ and Agartz, I. and
                      Djurovic, S. and Westlye, LT and Stefánsson, H. and
                      Stefánsson, K. and Jacquemont, S. and Thompson, PM and
                      Andreassen, OA},
      title        = {1q21.1 distal copy number variants are associated with
                      cerebral and cognitive alterations in humans},
      journal      = {Translational Psychiatry},
      volume       = {11},
      number       = {1},
      issn         = {2158-3188},
      address      = {London},
      publisher    = {Nature Publishing Group},
      reportid     = {FZJ-2021-03255},
      pages        = {182},
      year         = {2021},
      abstract     = {Low-frequency 1q21.1 distal deletion and duplication copy
                      number variant (CNV) carriers are predisposed to multiple
                      neurodevelopmental disorders, including schizophrenia,
                      autism and intellectual disability. Human carriers display a
                      high prevalence of micro- and macrocephaly in deletion and
                      duplication carriers, respectively. The underlying brain
                      structural diversity remains largely unknown. We
                      systematically called CNVs in 38 cohorts from the
                      large-scale ENIGMA-CNV collaboration and the UK Biobank and
                      identified 28 1q21.1 distal deletion and 22 duplication
                      carriers and 37,088 non-carriers $(48\%$ male) derived from
                      15 distinct magnetic resonance imaging scanner sites. With
                      standardized methods, we compared subcortical and cortical
                      brain measures (all) and cognitive performance (UK Biobank
                      only) between carrier groups also testing for mediation of
                      brain structure on cognition. We identified positive dosage
                      effects of copy number on intracranial volume (ICV) and
                      total cortical surface area, with the largest effects in
                      frontal and cingulate cortices, and negative dosage effects
                      on caudate and hippocampal volumes. The carriers displayed
                      distinct cognitive deficit profiles in cognitive tasks from
                      the UK Biobank with intermediate decreases in duplication
                      carriers and somewhat larger in deletion carriers—the
                      latter potentially mediated by ICV or cortical surface area.
                      These results shed light on pathobiological mechanisms of
                      neurodevelopmental disorders, by demonstrating gene dose
                      effect on specific brain structures and effect on cognitive
                      function.},
      cin          = {INM-1},
      ddc          = {610},
      cid          = {I:(DE-Juel1)INM-1-20090406},
      pnm          = {5251 - Multilevel Brain Organization and Variability
                      (POF4-525) / 571 - Connectivity and Activity (POF3-571) /
                      HBP SGA3 - Human Brain Project Specific Grant Agreement 3
                      (945539)},
      pid          = {G:(DE-HGF)POF4-5251 / G:(DE-HGF)POF3-571 /
                      G:(EU-Grant)945539},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:33753722},
      UT           = {WOS:000632961500003},
      doi          = {10.1038/s41398-021-01213-0},
      url          = {https://juser.fz-juelich.de/record/894519},
}