A Copy Number Variation Morbidity Map of Developmental Delay

To understand the genetic heterogeneity underlying developmental delay, we compare copy-number variants (CNVs) in 15,767 children with intellectual disability and various congenital defects to 8,329 adult controls. We estimate that ~14.2% of disease in these individuals is due to large CNVs > 400...

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Hauptverfasser: Cooper, Gregory M., Coe, Bradley P., Girirajan, Santhosh, Rosenfeld, Jill A., Vu, Tiffany, Baker, Carl, Williams, Charles, Stalker, Heather, Hamid, Rizwan, Hannig, Vickie, Abdel-Hamid, Hoda, Bader, Patricia, McCracken, Elizabeth, Niyazov, Dmitriy, Leppig, Kathleen, Thiese, Heidi, Hummel, Marybeth, Alexander, Nora, Gorski, Jerome, Kussmann, Jennifer, Shashi, Vandana, Johnson, Krys, Rehder, Catherine, Ballif, Blake C., Shaffer, Lisa G., Eichler, Evan E.
Format: Artigo
Sprache:Inglês
Veröffentlicht: 2011
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Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3171215/
https://ncbi.nlm.nih.gov/pubmed/21841781
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ng.909
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