Prospective, phenotype-driven selection of critically ill neonates for rapid exome sequencing is associated with high diagnostic yield
Cynthia S. Gubbels(Boston Children's Hospital), Timothy W. Yu(Boston Children's Hospital), Deborah Copenheaver, Jill A. Madden(Boston Children's Hospital), Sandra Yang, Nina B. Gold(Harvard University), Richard B. Parad(Brigham and Women's Hospital), Alan H. Beggs(Boston Children's Hospital), Monica H. Wojcik(Broad Institute), Joan M. Stoler(Harvard University Press), Jane Juusola, Olaf A. Bodamer(Universitätsklinik für Kinder und Jugendpsychiatrie), Pankaj B. Agrawal(Post Graduate Institute of Medical Education and Research), Grace E. VanNoy(MACOM (United States)), Casie A. Genetti(Boston Children's Hospital), S. A. Roumiantsev(Pirogov Russian National Research Medical University)
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