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Discordant results between conventional newborn screening and genomic sequencing in the BabySeq Project.
Wojcik, Monica H; Zhang, Tian; Ceyhan-Birsoy, Ozge; Genetti, Casie A; Lebo, Matthew S; Yu, Timothy W; Parad, Richard B; Holm, Ingrid A; Rehm, Heidi L; Beggs, Alan H; Green, Robert C; Agrawal, Pankaj B.
Affiliation
  • Wojcik MH; Division of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital, and Department of Pediatrics, Harvard Medical School, Boston, MA, USA. monica.wojcik@childrens.harvard.edu.
  • Zhang T; Division of Newborn Medicine, Department of Pediatrics, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA. monica.wojcik@childrens.harvard.edu.
  • Ceyhan-Birsoy O; Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA. monica.wojcik@childrens.harvard.edu.
  • Genetti CA; Division of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital, and Department of Pediatrics, Harvard Medical School, Boston, MA, USA.
  • Lebo MS; Department of Pathology, Memorial Sloan Kettering Cancer Center, New York, NY, USA.
  • Yu TW; Division of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital, and Department of Pediatrics, Harvard Medical School, Boston, MA, USA.
  • Parad RB; Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine, Cambridge, MA, USA.
  • Holm IA; Department of Pathology, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, USA.
  • Rehm HL; Division of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital, and Department of Pediatrics, Harvard Medical School, Boston, MA, USA.
  • Beggs AH; Department of Pediatric Newborn Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, USA.
  • Green RC; Division of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital, and Department of Pediatrics, Harvard Medical School, Boston, MA, USA.
  • Agrawal PB; Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Genet Med ; 23(7): 1372-1375, 2021 07.
Article in En | MEDLINE | ID: mdl-33772220

Full text: 1 Database: MEDLINE Main subject: Neonatal Screening / Genomics Type of study: Clinical_trials / Diagnostic_studies / Etiology_studies / Prognostic_studies / Risk_factors_studies / Screening_studies Limits: Humans / Infant / Newborn Language: En Journal: Genet Med Journal subject: GENETICA MEDICA Year: 2021 Type: Article Affiliation country: United States

Full text: 1 Database: MEDLINE Main subject: Neonatal Screening / Genomics Type of study: Clinical_trials / Diagnostic_studies / Etiology_studies / Prognostic_studies / Risk_factors_studies / Screening_studies Limits: Humans / Infant / Newborn Language: En Journal: Genet Med Journal subject: GENETICA MEDICA Year: 2021 Type: Article Affiliation country: United States