Authors
Andres Moreno-De-Luca, David W Evans, KB Boomer, Ellen Hanson, Raphael Bernier, Robin P Goin-Kochel, Scott M Myers, Thomas D Challman, Daniel Moreno-De-Luca, Mylissa M Slane, Abby E Hare, Wendy K Chung, John E Spiro, W Andrew Faucett, Christa L Martin, David H Ledbetter
Publication date
2015/2/1
Journal
JAMA psychiatry
Volume
72
Issue
2
Pages
119-126
Publisher
American Medical Association
Description
Importance
Most disorders caused by copy number variants (CNVs) display significant clinical variability, often referred to as incomplete penetrance and variable expressivity. Genetic and environmental sources of this variability are not well understood.
Objectives
To investigate the contributors to phenotypic variability in probands with CNVs involving the same genomic region; to measure the effect size for de novo mutation events; and to explore the contribution of familial background to resulting cognitive, behavioral, and motor performance outcomes in probands with de novo CNVs.
Design, Setting, and Participants
Family-based study design with a volunteer sample of 56 individuals with de novo 16p11.2 deletions and their noncarrier parents and siblings from the Simons Variation in Individuals Project.
Main Outcomes and Measures
We used linear mixed-model analysis to measure effect size and intraclass …
Scholar articles
A Moreno-De-Luca, DW Evans, KB Boomer, E Hanson… - JAMA psychiatry, 2015