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The Role of Parental Cognitive, Behavioral, and Motor Profiles in Clinical Variability in Individuals With Chromosome 16p11.2 Deletions
Author(s) -
Andrés Moreno-De-Luca,
David W. Evans,
K. B. Boomer,
Ellen Hanson,
Raphael Bernier,
Robin P. GoinKochel,
Scott M. Myers,
Thomas D. Challman,
Daniel MorenoDeLuca,
Mylissa M. Slane,
Abby Hare,
Wendy K. Chung,
John E. Spiro,
W. Andrew Faucett,
Alastair J. Martin,
David H. Ledbetter
Publication year - 2014
Publication title -
jama psychiatry
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 7.531
H-Index - 365
eISSN - 2168-6238
pISSN - 2168-622X
DOI - 10.1001/jamapsychiatry.2014.2147
Subject(s) - proband , penetrance , psychology , intraclass correlation , copy number variation , intelligence quotient , cognition , genetics , developmental psychology , biology , psychometrics , phenotype , psychiatry , mutation , genome , gene
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.

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