作者
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
发表日期
2015/2/1
期刊
JAMA psychiatry
卷号
72
期号
2
页码范围
119-126
出版商
American Medical Association
简介
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 …
学术搜索中的文章
A Moreno-De-Luca, DW Evans, KB Boomer, E Hanson… - JAMA psychiatry, 2015