Martineau Jean-Louis

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Rare CNVs and phenome-wide profiling highlight brain structural divergence and phenotypical convergence - Nature Human Behaviour

Mar 2, 2023 | nature.com | Jakub Kopal |Karin Saltoun |Guillaume Huguet |Martineau Jean-Louis |Zohra Saci |Elise Douard | +7 more

AbstractCopy number variations (CNVs) are rare genomic deletions and duplications that can affect brain and behaviour. Previous reports of CNV pleiotropy imply that they converge on shared mechanisms at some level of pathway cascades, from genes to large-scale neural circuits to the phenome. However, existing studies have primarily examined single CNV loci in small clinical cohorts.

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