Copy number variation meta-analysis reveals a novel duplication at 9p24 associated with multiple neurodevelopmental disorders

Abstract Background Neurodevelopmental and neuropsychiatric disorders represent a wide spectrum of heterogeneous yet inter-related disease conditions. The overlapping clinical presentations of these diseases suggest a shared genetic etiology. We aim to identify shared structural variants spanning th...

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Main Authors: Joseph T. Glessner, Jin Li, Dai Wang, Michael March, Leandro Lima, Akshatha Desai, Dexter Hadley, Charlly Kao, Raquel E. Gur, Nadine Cohen, Patrick M. A. Sleiman, Qingqin Li, Hakon Hakonarson, the Janssen-CHOP Neuropsychiatric Genomics Working Group
Formato: Artigo
Idioma:Inglês
Publicado em: BMC 2017-11-01
Colecção:Genome Medicine
Assuntos:
Copy number variation
DOCK8
Gene-based analysis
Meta-analysis
Neuropsychiatric disorders
Quantitative PCR
Acesso em linha:http://link.springer.com/article/10.1186/s13073-017-0494-1
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