The relevance of deep genomic analyses in families with variably expressive CNVs in the era of personalized medicine
Lucilla Pizzo,Matthew Jensen,Anastasia Tyryshkina,Corrine Smolen,Cora Taylor,Laura Rohan,Emily Huber,Penny Snell,Kate Pope,Vijay Kumar Pounraja,Jill Rosenfeld,Elizabeth McCready,Susan Zeesman,Małgorzata Nowaczyk,Charles Schwartz, Boris Keren,Charles Perrine,Paolo Prontera,Anke Van Dijck,Frank Kooy,Jean-Hubert Caberg,Els Voorhoeve,Siddharth Banka,Erik Sistermans,Nathalie Marle,Alessandra Renieri,Dominique Martin-Coignard,Bertrand Isidor,Alexandre Reymond,Katrin Mannik,Joris Andrieux, David Amor, Corrado Romano,Santhosh Girirajan Molecular Genetics and Metabolism（2021）
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deep genomic analyses,expressive cnvs,families
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