Copy number variations and cognitive phenotypes in unselected populations.

Männik, Katrin; Mägi, Reedik; Macé, Aurélien; Cole, Ben; L Guyatt, Anna; A Shihab, Hashem; M Maillard, Anne; Alavere, Helene; Kolk, Anneli; Reigo, Anu; Mihailov, Evelin; Leitsalu, Liis; Ferreira, Anne-Maud; Nõukas, Margit; Teumer, Alexander; Salvi, Erika; Cusi, Daniele; McGue, Matt; G Iacono, William; R Gaunt, Tom; S Beckmann, Jacques; Jacquemont, Sébastien; Kutalik, Zoltán; Pankratz, Nathan; Timpson, Nicholas; Metspalu, Andres; Reymond, Alexandre

doi:10.1001/jama.2015.4845

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Copy number variations and cognitive phenotypes in unselected populations.

Published in JAMA • May 26, 2015

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Authors:

Katrin Männik

,

Reedik Mägi

,

Aurélien Macé

Abstract

IMPORTANCE: The association of copy number variations (CNVs), differing numbers of copies of genetic sequence at locations in the genome, with phenotypes such as intellectual disability has been almost exclusively evaluated using clinically ascertained cohorts. The contribution of these genetic vari...

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