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Actionability of unanticipated monogenic disease risks in newborn genomic screening: Findings from the BabySeq Project.
Green, Robert C; Shah, Nidhi; Genetti, Casie A; Yu, Timothy; Zettler, Bethany; Uveges, Melissa K; Ceyhan-Birsoy, Ozge; Lebo, Matthew S; Pereira, Stacey; Agrawal, Pankaj B; Parad, Richard B; McGuire, Amy L; Christensen, Kurt D; Schwartz, Talia S; Rehm, Heidi L; Holm, Ingrid A; Beggs, Alan H.
Afiliação
  • Green RC; Department of Medicine, Mass General Brigham, Boston, MA 02115, USA; Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA; Ariadne Labs, Boston, MA 02215, USA; Harvard Medical School, Boston, MA 02215, USA. Electronic address: rcgreen@bwh.harvard.edu.
  • Shah N; Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA; Division of Genetics and Genomics, Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA 02115, USA; Dartmouth Health Children's, Lebanon, NH 03756, USA.
  • Genetti CA; Division of Genetics and Genomics, Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA 02115, USA.
  • Yu T; Harvard Medical School, Boston, MA 02215, USA; Division of Genetics and Genomics, Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA 02115, USA.
  • Zettler B; Department of Medicine, Mass General Brigham, Boston, MA 02115, USA; Ariadne Labs, Boston, MA 02215, USA.
  • Uveges MK; William F. Connell School of Nursing, Boston College, Chestnut Hill, MA 02467, USA.
  • Ceyhan-Birsoy O; Department of Pathology, Memorial Sloan Kettering Cancer Center, New York, NY 10065, USA.
  • Lebo MS; Department of Medicine, Mass General Brigham, Boston, MA 02115, USA; Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA; Harvard Medical School, Boston, MA 02215, USA; Department of Pathology, Brigham and Women's Hospital, Boston, MA 02115, USA.
  • Pereira S; Center for Medical Ethics and Health Policy, Baylor College of Medicine; Houston, TX, USA.
  • Agrawal PB; Harvard Medical School, Boston, MA 02215, USA; Division of Genetics and Genomics, Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA 02115, USA; Division of Neonatology, Department of Pediatrics, University of Miami Miller School of Medicine and Holtz Children's Hospit
  • Parad RB; Harvard Medical School, Boston, MA 02215, USA; Department of Pediatric Newborn Medicine, Brigham and Women's Hospital, Boston, MA 02115, USA.
  • McGuire AL; Center for Medical Ethics and Health Policy, Baylor College of Medicine; Houston, TX, USA.
  • Christensen KD; Harvard Medical School, Boston, MA 02215, USA; Department of Population Medicine, Harvard Pilgrim Health Care Institute, Boston, MA 02215, USA.
  • Schwartz TS; Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA.
  • Rehm HL; Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA; Harvard Medical School, Boston, MA 02215, USA; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114, USA.
  • Holm IA; Harvard Medical School, Boston, MA 02215, USA; Division of Genetics and Genomics, Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA 02115, USA.
  • Beggs AH; Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA; Harvard Medical School, Boston, MA 02215, USA; Division of Genetics and Genomics, Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA 02115, USA.
Am J Hum Genet ; 110(7): 1034-1045, 2023 07 06.
Article em En | MEDLINE | ID: mdl-37279760
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Genoma Humano / Testes Genéticos Idioma: En Ano de publicação: 2023 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Genoma Humano / Testes Genéticos Idioma: En Ano de publicação: 2023 Tipo de documento: Article