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Hospital-wide access to genomic data advanced pediatric rare disease research and clinical outcomes.

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Title: Hospital-wide access to genomic data advanced pediatric rare disease research and clinical outcomes.
Authors: French CE; Children's Rare Disease Collaborative, Boston Children's Hospital, Boston, MA, USA., Andrews NC; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.; Department of Pediatrics, Harvard Medical School, Boston, MA, USA., Beggs AH; Children's Rare Disease Collaborative, Boston Children's Hospital, Boston, MA, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.; Department of Pediatrics, Harvard Medical School, Boston, MA, USA.; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, USA.; Broad Institute of MIT and Harvard, Cambridge, MA, USA., Boone PM; Children's Rare Disease Collaborative, Boston Children's Hospital, Boston, MA, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.; Department of Pediatrics, Harvard Medical School, Boston, MA, USA., Brownstein CA; Children's Rare Disease Collaborative, Boston Children's Hospital, Boston, MA, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.; Department of Pediatrics, Harvard Medical School, Boston, MA, USA.; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, USA., Chopra M; Children's Rare Disease Collaborative, Boston Children's Hospital, Boston, MA, USA.; Rosamund Stone Zander Translational Neuroscience Center, Boston Children's Hospital, Boston, MA, USA., Chou J; Children's Rare Disease Collaborative, Boston Children's Hospital, Boston, MA, USA.; Department of Pediatrics, Harvard Medical School, Boston, MA, USA.; Division of Immunology, Boston Children's Hospital, Boston, MA, USA., Chung WK; Children's Rare Disease Collaborative, Boston Children's Hospital, Boston, MA, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.; Department of Pediatrics, Harvard Medical School, Boston, MA, USA.; Broad Institute of MIT and Harvard, Cambridge, MA, USA., D'Gama AM; Children's Rare Disease Collaborative, Boston Children's Hospital, Boston, MA, USA.; Department of Pediatrics, Harvard Medical School, Boston, MA, USA.; Division of Newborn Medicine, Boston Children's Hospital, Boston, MA, USA.; Department of Neurology, Boston Children's Hospital, Boston, MA, USA., Doan RN; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.; Department of Pediatrics, Harvard Medical School, Boston, MA, USA., Ebrahimi-Fakhari D; Children's Rare Disease Collaborative, Boston Children's Hospital, Boston, MA, USA.; Department of Neurology, Boston Children's Hospital, Boston, MA, USA.; F.M. Kirby Neurobiology Center, Boston Children's Hospital, Boston, MA, USA., Goldstein RD; Children's Rare Disease Collaborative, Boston Children's Hospital, Boston, MA, USA.; Department of Pediatrics, Harvard Medical School, Boston, MA, USA.; Division of General Pediatrics, Boston Children's Hospital, Boston, MA, USA., Irons M; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.; Department of Pediatrics, Harvard Medical School, Boston, MA, USA., Jacobsen C; Children's Rare Disease Collaborative, Boston Children's Hospital, Boston, MA, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.; Department of Pediatrics, Harvard Medical School, Boston, MA, USA.; Division of Endocrinology, Boston Children's Hospital, Boston, MA, USA., Kenna M; Children's Rare Disease Collaborative, Boston Children's Hospital, Boston, MA, USA.; Department of Otolaryngology and Communication Enhancement, Boston Children's Hospital, Boston, MA, USA.; Department of Otolaryngology Head and Neck Surgery, Harvard Medical School, Boston, MA, USA., Lee T; Children's Rare Disease Collaborative, Boston Children's Hospital, Boston, MA, USA.; Department of Urology, Boston Children's Hospital, Boston, MA, USA.; Department of Surgery, Harvard Medical School, Boston, MA, USA., Madden JA; Children's Rare Disease Collaborative, Boston Children's Hospital, Boston, MA, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.; Department of Pediatrics, Harvard Medical School, Boston, MA, USA.; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, USA., Majmundar AJ; Children's Rare Disease Collaborative, Boston Children's Hospital, Boston, MA, USA.; Department of Pediatrics, Harvard Medical School, Boston, MA, USA.; Division of Nephrology, Boston Children's Hospital, Boston, MA, USA., Mann N; Children's Rare Disease Collaborative, Boston Children's Hospital, Boston, MA, USA.; Department of Pediatrics, Harvard Medical School, Boston, MA, USA.; Division of Nephrology, Boston Children's Hospital, Boston, MA, USA., Morton SU; Department of Pediatrics, Harvard Medical School, Boston, MA, USA.; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, USA.; Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Division of Newborn Medicine, Boston Children's Hospital, Boston, MA, USA., Poduri A; Children's Rare Disease Collaborative, Boston Children's Hospital, Boston, MA, USA.; Department of Neurology, Boston Children's Hospital, Boston, MA, USA.; Department of Neurology, Harvard Medical School, Boston, MA, USA., Randolph AG; Children's Rare Disease Collaborative, Boston Children's Hospital, Boston, MA, USA.; Department of Pediatrics, Harvard Medical School, Boston, MA, USA.; Department of Anesthesiology, Critical Care and Pain Medicine, Boston Children's Hospital, Boston, MA, USA.; Department of Anaesthesia, Harvard Medical School, Boston, MA, USA., Roberts AE; Children's Rare Disease Collaborative, Boston Children's Hospital, Boston, MA, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.; Department of Pediatrics, Harvard Medical School, Boston, MA, USA.; Department of Cardiology, Boston Children's Hospital, Boston, MA, USA., Roberts S; Children's Rare Disease Collaborative, Boston Children's Hospital, Boston, MA, USA.; Department of Pediatrics, Harvard Medical School, Boston, MA, USA.; Division of Endocrinology, Boston Children's Hospital, Boston, MA, USA., Sampson MG; Children's Rare Disease Collaborative, Boston Children's Hospital, Boston, MA, USA.; Department of Pediatrics, Harvard Medical School, Boston, MA, USA.; Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Division of Nephrology, Boston Children's Hospital, Boston, MA, USA.; Division of Nephrology, Brigham and Women's Hospital, Boston, MA, USA., Shao DD; Children's Rare Disease Collaborative, Boston Children's Hospital, Boston, MA, USA.; Department of Neurology, Boston Children's Hospital, Boston, MA, USA., Shao W; Children's Rare Disease Collaborative, Boston Children's Hospital, Boston, MA, USA., Sharma A; Children's Rare Disease Collaborative, Boston Children's Hospital, Boston, MA, USA., Shearer E; Children's Rare Disease Collaborative, Boston Children's Hospital, Boston, MA, USA.; Department of Otolaryngology and Communication Enhancement, Boston Children's Hospital, Boston, MA, USA.; Department of Otolaryngology Head and Neck Surgery, Harvard Medical School, Boston, MA, USA., Shimamura A; Children's Rare Disease Collaborative, Boston Children's Hospital, Boston, MA, USA.; Department of Pediatrics, Harvard Medical School, Boston, MA, USA.; Department of Hematology and Oncology, Boston Children's Hospital, Boston, MA, USA.; Dana Farber Cancer Institute, Boston, MA, USA., Snapper SB; Children's Rare Disease Collaborative, Boston Children's Hospital, Boston, MA, USA.; Department of Pediatrics, Harvard Medical School, Boston, MA, USA.; Division of Gastroenterology, Hepatology and Nutrition, Boston Children's Hospital, Boston, MA, USA., Srivastava S; Children's Rare Disease Collaborative, Boston Children's Hospital, Boston, MA, USA.; Rosamund Stone Zander Translational Neuroscience Center, Boston Children's Hospital, Boston, MA, USA.; Department of Neurology, Boston Children's Hospital, Boston, MA, USA., Thiagarajah JR; Children's Rare Disease Collaborative, Boston Children's Hospital, Boston, MA, USA.; Department of Pediatrics, Harvard Medical School, Boston, MA, USA.; Division of Gastroenterology, Hepatology and Nutrition, Boston Children's Hospital, Boston, MA, USA., Whitman MC; Children's Rare Disease Collaborative, Boston Children's Hospital, Boston, MA, USA.; F.M. Kirby Neurobiology Center, Boston Children's Hospital, Boston, MA, USA.; Department of Ophthalmology, Boston Children's Hospital, Boston, MA, USA.; Department of Ophthalmology, Harvard Medical School, Boston, MA, USA., Wojcik MH; Children's Rare Disease Collaborative, Boston Children's Hospital, Boston, MA, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.; Department of Pediatrics, Harvard Medical School, Boston, MA, USA.; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, USA.; Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Division of Newborn Medicine, Boston Children's Hospital, Boston, MA, USA., Rockowitz S; Children's Rare Disease Collaborative, Boston Children's Hospital, Boston, MA, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.; Department of Pediatrics, Harvard Medical School, Boston, MA, USA.; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, USA., Sliz P; Children's Rare Disease Collaborative, Boston Children's Hospital, Boston, MA, USA. Piotr.Sliz@childrens.harvard.edu.; Department of Pediatrics, Harvard Medical School, Boston, MA, USA. Piotr.Sliz@childrens.harvard.edu.; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, USA. Piotr.Sliz@childrens.harvard.edu.; Division of Molecular Medicine, Boston Children's Hospital, Boston, MA, USA. Piotr.Sliz@childrens.harvard.edu.; Department of Biological Chemistry and Molecular Pharmacology, Harvard Medical School, Boston, MA, USA. Piotr.Sliz@childrens.harvard.edu.
Source: NPJ genomic medicine [NPJ Genom Med] 2024 Dec 02; Vol. 9 (1), pp. 60. Date of Electronic Publication: 2024 Dec 02.
Publication Type: Journal Article
Journal Info: Publisher: Springer Nature in partnership with the Center of Excellence in Genomic Medicine Research at King Abdulaziz University Country of Publication: England NLM ID: 101685193 Publication Model: Electronic Cited Medium: Internet ISSN: 2056-7944 (Electronic) Linking ISSN: 20567944 NLM ISO Abbreviation: NPJ Genom Med Subsets: PubMed not MEDLINE
Database: MEDLINE Ultimate
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ISSN:2056-7944
DOI:10.1038/s41525-024-00441-9