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Estimates of penetrance for recurrent pathogenic copy-number variations

2012429 citationsJournal Articlebronze Open Access

Authors

Jill A. Rosenfeld · PerkinElmer (United States)

Bradley P. Coe · University of Washington

Evan E. Eichler · Howard Hughes Medical Institute

Howard Cuckle · Columbia University Irving Medical Center

Lisa G. Shaffer · PerkinElmer (United States)

Topics & Keywords

Genomic variations and chromosomal abnormalities Congenital heart defects research Prenatal Screening and Diagnostics

Publication Details

Published in: Genetics in Medicine

Volume 15, Issue 6, pp. 478-481

DOI: 10.1038/gim.2012.164

Field-Weighted Citation Impact: 13.03

Estimates of penetrance for recurrent pathogenic copy-number variations | Researchclopedia