Subcortical brain alterations in carriers of genomic copy number variants.
Kuldeep KumarClaudia ModenatoClara MoreauChristopher R K ChingAnnabelle HarveySandra Martin-BrevetGuillaume HuguetMartineau Jean-LouisElise DouardCharles-Olivier MartinNadine YounisPetra TamerAnne M MaillardBorja Rodriguez-HerrerosAurélie PainSonia Richetinnull nullnull nullLeila KushanDmitry IsaevKathryn AlpertAnjani RagothamanJessica A TurnerLei WangTiffany C HoLianne SchmaalAna I SilvaMarianne B M van den BreeDavid E J LindenMichael J OwenJeremy HallSarah LippéGuillaume DumasBogdan DraganskiBoris A GutmanIda E SønderbyOle A AndreassenLaura SchultzLaura AlmasyDavid C GlahnCarrie E BeardenPaul M ThompsonSébastien JacquemontPublished in: medRxiv : the preprint server for health sciences (2023)
Our findings demonstrate that subcortical alterations associated with CNVs show varying levels of similarities with those associated with neuropsychiatric conditions. We also observed distinct effects with some CNVs clustering with adult conditions while others clustered with ASD. This large cross-CNV and NPDs analysis provide insight into the long-standing questions of why CNVs at different genomic loci increase the risk for the same NPD, as well as why a single CNV increases the risk for a diverse set of NPDs.