Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHE

Autism is a neurodevelopmental disorder with increasing evidence of heterogeneous genetic etiology including de novo and inherited copy number variants (CNVs). We performed array comparative genomic hybridization using a custom Agilent 1 M oligonucleotide array intended to cover 197 332 unique exons...

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Autori principali: Celestino-Soper, Patricia B.S., Shaw, Chad A., Sanders, Stephan J., Li, Jian, Murtha, Michael T., Ercan-Sencicek, A. Gulhan, Davis, Lea, Thomson, Susanne, Gambin, Tomasz, Chinault, A. Craig, Ou, Zhishuo, German, Jennifer R., Milosavljevic, Aleksandar, Sutcliffe, James S., Cook, Edwin H., Stankiewicz, Pawel, State, Matthew W., Beaudet, Arthur L.
Natura: Artigo
Lingua:Inglês
Pubblicazione: Oxford University Press 2011
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC3196886/
https://ncbi.nlm.nih.gov/pubmed/21865298
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddr363
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