Copy Number Variations and Cognitive Phenotypes in Unselected Populations

Männik, Katrin; Mägi, Reedik; Macé, Aurélien; Cole, Ben; L. Guyatt, Anna; A. Shihab, Hashem; 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; Beckmann, J.; Jacquemont, Sébastien; Kutalik, Zoltán; Pankratz, Nathan; J. Timpson, Nicholas; Metspalu, Andres; Reymond, Alexandre

doi:10.1001/jama.2015.4845

Public

Copy Number Variations and Cognitive Phenotypes in Unselected Populations

Published in JAMA • May 26, 2015

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...

Subject

Intellectual disability

Copy-number variation

Medicine

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