The Penetrance of Copy Number Variations for Schizophrenia and Developmental Delay

2013385 citationsJournal Articlehybrid Open Access

Authors

George Kirov · Medical Research Council

Elliott Rees · Cardiff University

James Walters · Medical Research Council

Valentina Escott‐Price · Medical Research Council

Lyudmila Georgieva · Medical Research Council

Alexander Richards · Medical Research Council

Kimberly D. Chambert ·

Abstract

CNVs associated with SCZ have high pathogenicity. The majority of the increased risk conferred by CNVs is toward the development of an earlier-onset disorder, such as DD/ASD/CM, rather than SCZ. The penetrance of CNVs correlates strongly with their selection coefficients. The improved estimates of penetrance will provide crucial information for genetic counselling.

Topics & Keywords

Genomic variations and chromosomal abnormalities Congenital heart defects research Autism Spectrum Disorder Research

Publication Details

Published in: Biological Psychiatry

Volume 75, Issue 5, pp. 378-385

DOI: 10.1016/j.biopsych.2013.07.022

Field-Weighted Citation Impact: 22.03

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The Penetrance of Copy Number Variations for Schizophrenia and Developmental Delay

Authors

Abstract

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Publication Details