Prospective, phenotype-driven selection of critically ill neonates for rapid exome sequencing is associated with high diagnostic yield

Cynthia S. Gubbels(Broad Institute), Grace E. VanNoy(Broad Institute), Jill A. Madden(Boston Children's Hospital), Deborah Copenheaver, Sandra Yang, Monica H. Wojcik(Broad Institute), Nina B. Gold(Boston Children's Hospital), Casie A. Genetti(Boston Children's Hospital), Joan M. Stoler(Boston Children's Hospital), Richard B. Parad(Brigham and Women's Hospital), S. A. Roumiantsev(Harvard University), Olaf A. Bodamer(Broad Institute), Alan H. Beggs(Boston Children's Hospital), Jane Juusola, Pankaj B. Agrawal(Boston Children's Hospital), Timothy W. Yu(Broad Institute)
Genetics in Medicine
November 28, 2019
Cited by 121Open Access
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