Genotype–phenotype associations in children with copy number variants associated with high neuropsychiatric risk in the UK (IMAGINE-ID): a case-control cohort study

The Lancet Psychiatry

Fecha de publicación: 2 May 2019


Autores: Samuel J R A Chawner, PhD., Prof Michael J Owen, FRCPsych., Prof Peter Holmans, PhD., Prof F Lucy Raymond, FRCP
David Skuse, FRCPsych., Prof Jeremy Hall, MRCPsych †
et al.

Background: Several copy number variants (CNVs) are associated with a high risk of neurodevelopmental and psychiatric disorders (referred to as ND-CNVs). We aimed to characterise the effect of ND-CNVs on childhood development and investigate whether different ND-CNVs lead to distinct and specific patterns of cognitive and behavioural outcomes.

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