Browsing by Author "Duque, F"
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- Recurrent duplications of the annexin A1 gene (ANXA1) in autism spectrum disordersPublication . Correia, C.T.; Conceição, I.C.; Oliveira, B.; Coelho, J.; Sousa, I.; Sequeira, A.F.; Almeida, J.; Café, C.; Duque, F; Mouga, S.; Roberts, W.; Gao, K.; Lowe, J.K.; Thiruvahindrapuram, B.; Walker, S.; Marshall, C.R.; Pinto, D.; Nurnberger, J.I.; Scherer, S.W.; Geschwind, D.H.; Oliveira, G.; Vicente, A.M.Validating the potential pathogenicity of copy number variants (CNVs) identified in genome-wide studies of autism spectrum disorders (ASD) requires detailed assessment of case/control frequencies, inheritance patterns, clinical correlations, and functional impact. Here, we characterize a small recurrent duplication in the annexin A1 (ANXA1) gene, identified by the Autism Genome Project (AGP) study.