relative burden of large cnvs on a range of neurodevelopmental phenotypes相对大的负担基因拷贝数异变在一系列神经发育表型.pdfVIP
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relative burden of large cnvs on a range of neurodevelopmental phenotypes相对大的负担基因拷贝数异变在一系列神经发育表型
Relative Burden of Large CNVs on a Range of
Neurodevelopmental Phenotypes
1 2 1 1 1 1
Santhosh Girirajan , Zoran Brkanac , Bradley P. Coe , Carl Baker , Laura Vives , Tiffany H. Vu , Neil
1 2 3 3 4
Shafer , Raphael Bernier , Giovanni B. Ferrero , Margherita Silengo , Stephen T. Warren , Carlos S.
5 6 6 2,7 1,8
Moreno , Marco Fichera , Corrado Romano , Wendy H. Raskind , Evan E. Eichler *
1 Department of Genome Sciences, University of Washington School of Medicine, Seattle, Washington, United States of America, 2 Department of Psychiatry and
Behavioral Sciences, University of Washington School of Medicine, Seattle, Washington, United States of America, 3 Department of Pediatrics, University of Torino, Turin,
Italy, 4 Departments of Human Genetics, Biochemistry, and Pediatrics, Emory University School of Medicine, Atlanta, Georgia, United States of America, 5 Department of
Pathology and Laboratory Medicine, Emory University School of Medicine, Atlanta, Georgia, United States of America, 6 IRCCS Associazione Oasi Maria Santissima, Troina,
Italy, 7 Department of Medicine, Division of Medical Genetics, University of Washington School of Medicine, Seattle, Washington, United States of America, 8 Howard
Hughes Medical Institute, University of Washington School of Medicine, Seattle, Washington, United States of America
Abstract
While numerous studies have implicated copy number variants (CNVs) in a range of neurological phenotypes, the impact
relative to disease severit
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