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Expanded Newborn Screening Using Genome Sequencing for Early Actionable Conditions.

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Title: Expanded Newborn Screening Using Genome Sequencing for Early Actionable Conditions.
Authors: Ziegler A; Department of Pediatrics, Columbia University Irving Medical Center, New York, New York., Koval-Burt C; Department of Pediatrics, Columbia University Irving Medical Center, New York, New York., Kay DM; Newborn Screening Program, Wadsworth Center, New York State Department of Health, Albany., Suchy SF; GeneDx, LLC, Gaithersburg, Maryland., Begtrup A; GeneDx, LLC, Gaithersburg, Maryland., Langley KG; GeneDx, LLC, Gaithersburg, Maryland., Hernan R; Department of Pediatrics, Columbia University Irving Medical Center, New York, New York., Amendola LM; Illumina, San Diego, California., Boyd BM; Department of Pediatrics, Columbia University Irving Medical Center, New York, New York., Bradley J; Newborn Screening Program, Wadsworth Center, New York State Department of Health, Albany., Brandt T; GeneDx, LLC, Gaithersburg, Maryland., Cohen LL; NewYork-Presbyterian Weill Cornell Medical Center, New York., Coffey AJ; Illumina, San Diego, California., Devaney JM; GeneDx, LLC, Gaithersburg, Maryland., Dygulska B; NewYork-Presbyterian Brooklyn Methodist Hospital, New York., Friedman B; GeneDx, LLC, Gaithersburg, Maryland., Fuleihan RL; Division of Allergy, Immunology & Rheumatology, Columbia University Irving Medical Center, New York, New York., Gyimah A; Department of Pediatrics, Columbia University Irving Medical Center, New York, New York., Hahn S; Department of Pediatrics, Biochemical Genetics, University of Washington, Seattle Children's Hospital, Seattle., Hofherr S; GeneDx, LLC, Gaithersburg, Maryland., Hruska KS; GeneDx, LLC, Gaithersburg, Maryland., Hu Z; Department of Systems Biology, Columbia University Irving Medical Center, New York, New York., Jeanne M; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, Boston, Massachusetts., Jin G; Department of Pediatrics, Columbia University Irving Medical Center, New York, New York., Johnson DA; GeneDx, LLC, Gaithersburg, Maryland., Kavus H; Department of Pediatrics, Columbia University Irving Medical Center, New York, New York., Leibel RL; Department of Pediatrics, Columbia University Irving Medical Center, New York, New York., Lobritto SJ; Department of Pediatrics, Columbia University Irving Medical Center, New York, New York., McGee S; GeneDx, LLC, Gaithersburg, Maryland., Milner JD; Division of Allergy, Immunology & Rheumatology, Columbia University Irving Medical Center, New York, New York., McWalter K; GeneDx, LLC, Gaithersburg, Maryland., Monaghan KG; GeneDx, LLC, Gaithersburg, Maryland., Orange JS; Department of Pediatrics, Columbia University Irving Medical Center, New York, New York., Pimentel Soler N; Department of Pediatrics, Columbia University Irving Medical Center, New York, New York., Quevedo Y; Department of Pediatrics, Columbia University Irving Medical Center, New York, New York., Ratner S; Department of Pediatrics, Columbia University Irving Medical Center, New York, New York., Retterer K; GeneDx, LLC, Gaithersburg, Maryland., Shah A; Division of Pediatric Cardiology, Department of Pediatrics, Weill Cornell Medical College, New York, New York., Shapiro N; NewYork-Presbyterian Queens, Flushing., Sicko RJ; Newborn Screening Program, Wadsworth Center, New York State Department of Health, Albany., Silver ES; Division of Pediatric Cardiology, Department of Pediatrics, Columbia University Irving Medical Center, New York, New York., Strom S; Illumina, San Diego, California., Torene RI; GeneDx, LLC, Gaithersburg, Maryland., Williams O; Division of Pediatric Hematology, Oncology, and Stem Cell Transplantation, Department of Pediatrics, Columbia University Irving Medical Center, New York, New York., Ustach VD; GeneDx, LLC, Gaithersburg, Maryland., Wynn J; Department of Pediatrics, Columbia University Irving Medical Center, New York, New York., Taft RJ; Illumina, San Diego, California., Kruszka P; GeneDx, LLC, Gaithersburg, Maryland., Caggana M; Newborn Screening Program, Wadsworth Center, New York State Department of Health, Albany., Chung WK; Department of Pediatrics, Columbia University Irving Medical Center, New York, New York.; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, Boston, Massachusetts.; Harvard Medical School, Boston, Massachusetts.
Source: JAMA [JAMA] 2025 Jan 21; Vol. 333 (3), pp. 232-240.
Publication Type: Journal Article; Multicenter Study; Observational Study; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
Journal Info: Publisher: American Medical Association Country of Publication: United States NLM ID: 7501160 Publication Model: Print Cited Medium: Internet ISSN: 1538-3598 (Electronic) Linking ISSN: 00987484 NLM ISO Abbreviation: JAMA Subsets: MEDLINE
Database: MEDLINE Ultimate
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