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@ARTICLE{Sonderby:848364,
      author       = {Sonderby, I. E. and Gustafsson, O. and Doan, N. T. and
                      Hibar, D. P. and Martin-Brevet, S. and Westley, L. T. and
                      Jacquemont, S. and Djurovic, S. and Stefansson, H. and
                      Stefansson, K. and Thompson, P. M. and Andreassen, O. A. and
                      Cichon, Sven},
      title        = {{D}ose response of the 16p11.2 digital copy number on
                      intracranial volume and basal ganglia},
      journal      = {Molecular psychiatry},
      volume       = {25},
      issn         = {1359-4184},
      address      = {London},
      publisher    = {Macmillan},
      reportid     = {FZJ-2018-03605},
      pages        = {584–602},
      year         = {2020},
      abstract     = {Carriers of large recurrent copy number variants (CNVs)
                      have a higher risk of developing neurodevelopmental
                      disorders. The 16p11.2 distal CNV predisposes carriers to
                      e.g., autism spectrum disorder and schizophrenia. We
                      compared subcortical brain volumes of 12 16p11.2 distal
                      deletion and 12 duplication carriers to 6882 non-carriers
                      from the large-scale brain Magnetic Resonance Imaging
                      collaboration, ENIGMA-CNV. After stringent CNV calling
                      procedures, and standardized FreeSurfer image analysis, we
                      found negative dose-response associations with copy number
                      on intracranial volume and on regional caudate, pallidum and
                      putamen volumes (β = −0.71 to −1.37;
                      P < 0.0005). In an independent sample, consistent
                      results were obtained, with significant effects in the
                      pallidum (β = −0.95, P = 0.0042). The two data
                      sets combined showed significant negative dose-response for
                      the accumbens, caudate, pallidum, putamen and ICV
                      (P = 0.0032, 8.9 × 10−6, 1.7 × 10−9,
                      3.5 × 10−12 and 1.0 × 10−4, respectively).
                      Full scale IQ was lower in both deletion and duplication
                      carriers compared to non-carriers. This is the first brain
                      MRI study of the impact of the 16p11.2 distal CNV, and we
                      demonstrate a specific effect on subcortical brain
                      structures, suggesting a neuropathological pattern
                      underlying the neurodevelopmental syndromes.},
      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:30283035},
      UT           = {WOS:000516569700011},
      doi          = {10.1038/s41380-018-0118-1},
      url          = {https://juser.fz-juelich.de/record/848364},
}