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@ARTICLE{Forstner:874604,
      author       = {Forstner, Andreas J and Fischer, Sascha B and Schenk,
                      Lorena M and Strohmaier, Jana and Maaser-Hecker, Anna and
                      Reinbold, Céline S and Sivalingam, Sugirthan and Hecker,
                      Julian and Streit, Fabian and Degenhardt, Franziska and
                      Witt, Stephanie H and Schumacher, Johannes and Thiele,
                      Holger and Nürnberg, Peter and Guzman-Parra, José and
                      Orozco Diaz, Guillermo and Auburger, Georg and Albus, Margot
                      and Borrmann-Hassenbach, Margitta and González, Maria José
                      and Gil Flores, Susana and Cabaleiro Fabeiro, Francisco J
                      and Del Río Noriega, Francisco and Perez Perez, Fermin and
                      Haro González, Jesus and Rivas, Fabio and Mayoral, Fermin
                      and Bauer, Michael and Pfennig, Andrea and Reif, Andreas and
                      Herms, Stefan and Hoffmann, Per and Pirooznia, Mehdi and
                      Goes, Fernando S and Rietschel, Marcella and Nöthen, Markus
                      M and Cichon, Sven},
      title        = {{W}hole-exome sequencing of 81 individuals from 27 multiply
                      affected bipolar disorder families},
      journal      = {Translational Psychiatry},
      volume       = {10},
      number       = {1},
      issn         = {2158-3188},
      address      = {London},
      publisher    = {Nature Publishing Group},
      reportid     = {FZJ-2020-01532},
      pages        = {57},
      year         = {2020},
      abstract     = {Bipolar disorder (BD) is a highly heritable
                      neuropsychiatric disease characterized by recurrent episodes
                      of depression and mania. Research suggests that the
                      cumulative impact of common alleles explains $25-38\%$ of
                      phenotypic variance, and that rare variants may contribute
                      to BD susceptibility. To identify rare, high-penetrance
                      susceptibility variants for BD, whole-exome sequencing (WES)
                      was performed in three affected individuals from each of 27
                      multiply affected families from Spain and Germany. WES
                      identified 378 rare, non-synonymous, and potentially
                      functional variants. These spanned 368 genes, and were
                      carried by all three affected members in at least one
                      family. Eight of the 368 genes harbored rare variants that
                      were implicated in at least two independent families. In an
                      extended segregation analysis involving additional family
                      members, five of these eight genes harbored variants showing
                      full or nearly full cosegregation with BD. These included
                      the brain-expressed genes RGS12 and NCKAP5, which were
                      considered the most promising BD candidates on the basis of
                      independent evidence. Gene enrichment analysis for all 368
                      genes revealed significant enrichment for four pathways,
                      including genes reported in de novo studies of autism
                      (padj < 0.006) and schizophrenia (padj = 0.015).
                      These results suggest a possible genetic overlap with BD for
                      autism and schizophrenia at the rare-sequence-variant level.
                      The present study implicates novel candidate genes for BD
                      development, and may contribute to an improved understanding
                      of the biological basis of this common and often devastating
                      disease.},
      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:32066727},
      pmc          = {pmc:PMC7026119},
      UT           = {WOS:000515818400003},
      doi          = {10.1038/s41398-020-0732-y},
      url          = {https://juser.fz-juelich.de/record/874604},
}