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Prospective, phenotype-driven selection of critically ill neonates for rapid exome sequencing is associated with high diagnostic yield.
Gubbels, Cynthia S; VanNoy, Grace E; Madden, Jill A; Copenheaver, Deborah; Yang, Sandra; Wojcik, Monica H; Gold, Nina B; Genetti, Casie A; Stoler, Joan; Parad, Richard B; Roumiantsev, Sergei; Bodamer, Olaf; Beggs, Alan H; Juusola, Jane; Agrawal, Pankaj B; Yu, Timothy W.
Affiliation
  • Gubbels CS; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.
  • VanNoy GE; Harvard Medical School, Boston, MA, USA.
  • Madden JA; Broad Institute of MIT and Harvard, Cambridge, MA, USA.
  • Copenheaver D; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, USA.
  • Yang S; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.
  • Wojcik MH; Broad Institute of MIT and Harvard, Cambridge, MA, USA.
  • Gold NB; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, USA.
  • Genetti CA; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.
  • Stoler J; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, USA.
  • Parad RB; GeneDx, Inc, Gaithersburg, MD, USA.
  • Roumiantsev S; GeneDx, Inc, Gaithersburg, MD, USA.
  • Bodamer O; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.
  • Beggs AH; Harvard Medical School, Boston, MA, USA.
  • Juusola J; Broad Institute of MIT and Harvard, Cambridge, MA, USA.
  • Agrawal PB; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, USA.
  • Yu TW; Division of Newborn Medicine, Boston Children's Hospital, Boston, MA, USA.
Genet Med ; 22(4): 736-744, 2020 04.
Article in En | MEDLINE | ID: mdl-31780822
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Full text: 1 Database: MEDLINE Main subject: Critical Illness / Exome Type of study: Diagnostic_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limits: Aged / Humans / Infant / Newborn Language: En Year: 2020 Type: Article
Fulltext
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Full text: 1 Database: MEDLINE Main subject: Critical Illness / Exome Type of study: Diagnostic_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limits: Aged / Humans / Infant / Newborn Language: En Year: 2020 Type: Article