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  • Director of Center
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© Research
Publication : Current Opinion in Genetics and Development

Structural and functional brain alterations revealed by neuroimaging in CNV carriers

Scientific Fields
Diseases
Organisms
Applications
Technique

Published in Current Opinion in Genetics and Development - 01 Jun 2021

Clara Moreau, Christopher Rk Ching, Kuldeep Kumar, Sebastien Jacquemont, Carrie Bearden

Link to HAL – pasteur-03500714

Link to DOI – 10.1016/j.gde.2021.03.002

Current Opinion in Genetics and Development, 2021, 68, pp.88-98. ⟨10.1016/j.gde.2021.03.002⟩

Copy Number Variants (CNVs) are associated with elevated rates of neuropsychiatric disorders. A ‘genetics-first’ approach, involving the CNV effects on the brain, irrespective of clinical symptomatology, allows investigation of mechanisms underlying neuropsychiatric disorders in the general population. Recent years have seen an increasing number of larger multisite neuroimaging studies investigating the effect of CNVs on structural and functional brain endophenotypes. Alterations overlap with those found in idiopathic psychiatric conditions but effect sizes are twofold to fivefold larger. Here we review new CNV-associated structural and functional brain alterations and outline the future of neuroimaging genomics research, with particular emphasis on developing new resources for the study of high-risk CNVs and rare genomic variants.