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pro vyhledávání: '"Andujar JD"'
Autor:
Ali G. Gharavi, Josh F. Peterson, Yuan Luo, Joshua C. Denny, Scott J. Hebbring, Blout Zawatsky Cl, Patrick M. A. Sleiman, David R. Crosslin, Dan M. Roden, Hakon Hakonarson, Sarah Bland, Eric Venner, Andujar Jd, Hana Zouk, Leora Witkowski, Ayorinde Cooley, Marc S. Williams, Jennifer A. Pacheco, Emma Perez, Kurt D. Christensen, Zeng C, Kathleen A. Leppig, Gail P. Jarvik, Ran Tao, Chunhua Weng, Georgia L. Wiesner, Robert C. Green, Richard A. Gibbs, Niall J. Lennon, Wendy K. Chung, Heidi L. Rehm, Lisa Bastarache, Siddharth Pratap
Knowledge of the clinical spectrum of rare genetic disorders helps in disease management and variant pathogenicity interpretation. Leveraging electronic health record (EHR)-linked genetic testing data from the eMERGE network, we determined the associ
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::43343f13ac7835fc69b68118d25267b5
https://doi.org/10.1101/2021.03.18.21253763
https://doi.org/10.1101/2021.03.18.21253763
Autor:
Zeng C; National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland., Bastarache LA; Center for Precision Medicine, Department of Biomedical Informatics, Vanderbilt University Medical Center, Nashville, Tennessee., Tao R; Department of Biostatistics, Vanderbilt Genetics Institute, Vanderbilt University Medical Center, Nashville, Tennessee., Venner E; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas., Hebbring S; Center for Human Genetics, Marshfield Clinic Research Institute, Marshfield, Wisconsin., Andujar JD; Department of Medicine, Vanderbilt University Medical Center, Nashville, Tennessee.; Clinical and Translational Hereditary Cancer Program, Division of Genetic Medicine, Vanderbilt-Ingram Cancer Center, Vanderbilt University, Nashville, Tennessee., Bland ST; Center for Precision Medicine, Department of Biomedical Informatics, Vanderbilt University Medical Center, Nashville, Tennessee., Crosslin DR; Department of Biomedical Informatics and Medical Education, University of Washington School of Medicine, Seattle., Pratap S; School of Graduate Studies and Research, Meharry Medical College, Nashville, Tennessee., Cooley A; Department of Microbiology, Immunology and Physiology, Meharry Medical College, Nashville, Tennessee., Pacheco JA; Center for Genetic Medicine, Feinberg School of Medicine, Northwestern University, Chicago, Illinois., Christensen KD; PRecisiOn Medicine Translational Research (PROMoTeR) Center, Department of Population Medicine, Harvard Pilgrim Health Care Institute, Boston, Massachusetts.; Department of Population Medicine, Harvard Medical School, Boston, Massachusetts., Perez E; Division of Genetics, Department of Medicine, Brigham and Women's Hospital, Boston, Massachusetts., Zawatsky CLB; Division of Genetics, Department of Medicine, Brigham and Women's Hospital, Boston, Massachusetts., Witkowski L; Centre Universitaire de Santé McGill, McGill University Health Centre, Montreal, Quebec, Canada., Zouk H; Laboratory for Molecular Medicine, Partners Healthcare Personalized Medicine, Cambridge, Massachusetts.; Department of Pathology, Massachusetts General Hospital, Harvard Medical School, Boston., Weng C; Department of Biomedical Informatics, Columbia University Irving Medical Center, New York, New York., Leppig KA; Genetic Services and Kaiser Permanente Washington Health Research Institute, Kaiser Permanente of Washington, Seattle., Sleiman PMA; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.; Division of Human Genetics, Department of Pediatrics, The University of Pennsylvania Perelman School of Medicine, Philadelphia., Hakonarson H; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.; Division of Human Genetics, Department of Pediatrics, The University of Pennsylvania Perelman School of Medicine, Philadelphia., Williams MS; Genomic Medicine Institute, Geisinger, Danville, Pennsylvania., Luo Y; Department of Preventive Medicine, Feinberg School of Medicine, Northwestern University, Chicago, Illinois., Jarvik GP; Department of Medicine (Medical Genetics), University of Washington, Seattle.; Department of Genome Sciences, University of Washington, Seattle., Green RC; Brigham and Women's Hospital, Broad Institute, Ariadne Labs and Harvard Medical School, Boston, Massachusetts., Chung WK; Department of Pediatrics, Columbia University, New York, New York.; Department of Medicine, Columbia University, New York, New York., Gharavi AG; Division of Nephrology, Department of Medicine, Columbia University Irving Medical Center, New York, New York.; Center for Precision Medicine and Genomics, Department of Medicine, Columbia University Irving Medical Center, New York, New York., Lennon NJ; Broad Institute of MIT and Harvard, Cambridge, Massachusetts., Rehm HL; Medical & Population Genetics Program and Genomics Platform, Broad Institute of MIT and Harvard Cambridge, Cambridge, Massachusetts.; Center for Genomic Medicine, Massachusetts General Hospital, Boston.; Department of Pathology, Harvard Medical School, Boston, Massachusetts., Gibbs RA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas., Peterson JF; Center for Precision Medicine, Department of Biomedical Informatics, Vanderbilt University Medical Center, Nashville, Tennessee., Roden DM; Center for Precision Medicine, Department of Biomedical Informatics, Vanderbilt University Medical Center, Nashville, Tennessee.; Divisions of Cardiovascular Medicine and Clinical Pharmacology, Department of Medicine, Vanderbilt University Medical Center, Nashville, Tennessee.; Department of Pharmacology, Vanderbilt University, Nashville, Tennessee., Wiesner GL; Department of Medicine, Vanderbilt University Medical Center, Nashville, Tennessee.; Clinical and Translational Hereditary Cancer Program, Division of Genetic Medicine, Vanderbilt-Ingram Cancer Center, Vanderbilt University, Nashville, Tennessee., Denny JC; National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.
Publikováno v:
JAMA oncology [JAMA Oncol] 2022 Jun 01; Vol. 8 (6), pp. 835-844.