Journal article
Subcortical Brain Alterations in Carriers of Genomic Copy Number Variants.
Kuldeep Kumar, Claudia Modenato, Clara Moreau, Christopher RK Ching, Annabelle Harvey, Sandra Martin-Brevet, Guillaume Huguet, Martineau Jean-Louis, Elise Douard, Charles-Olivier Martin, Nadine Younis, Petra Tamer, Anne M Maillard, Borja Rodriguez-Herreros, Aurélie Pain, undefined 16p11.2 European Consortium, Simons Searchlight Consortium, Leila Kushan, Dmitry Isaev, Kathryn Alpert, Anjani Ragothaman Show all
Am J Psychiatry | Published : 2023
Abstract
OBJECTIVE: Copy number variants (CNVs) are well-known genetic pleiotropic risk factors for multiple neurodevelopmental and psychiatric disorders (NPDs), including autism (ASD) and schizophrenia. Little is known about how different CNVs conferring risk for the same condition may affect subcortical brain structures and how these alterations relate to the level of disease risk conferred by CNVs. To fill this gap, the authors investigated gross volume, vertex-level thickness, and surface maps of subcortical structures in 11 CNVs and six NPDs. METHODS: Subcortical structures were characterized using harmonized ENIGMA protocols in 675 CNV carriers (CNVs at 1q21.1, TAR, 13q12.12, 15q11.2, 16p11.2, ..
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Awarded by NICHD NIH HHS
Awarded by NIMH NIH HHS
Awarded by Wellcome Trust
Awarded by NIBIB NIH HHS