Result Number | Material Type | Add to My Shelf Action | Record Details and Options |
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1 |
Material Type: Artigo
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A Randomized, Controlled Trial of the Analytic and Diagnostic Performance of Singleton and Trio, Rapid Genome and Exome Sequencing in Ill InfantsKingsmore, Stephen F. ; Cakici, Julie A. ; Clark, Michelle M. ; Gaughran, Mary ; Feddock, Michele ; Batalov, Sergey ; Bainbridge, Matthew N. ; Carroll, Jeanne ; Caylor, Sara A. ; Clarke, Christina ; Ding, Yan ; Ellsworth, Katarzyna ; Farnaes, Lauge ; Hildreth, Amber ; Hobbs, Charlotte ; James, Kiely ; Kint, Cyrielle I. ; Lenberg, Jerica ; Nahas, Shareef ; Prince, Lance ; Reyes, Iris ; Salz, Lisa ; Sanford, Erica ; Schols, Peter ; Sweeney, Nathaly ; Tokita, Mari ; Veeraraghavan, Narayanan ; Watkins, Kelly ; Wigby, Kristen ; Wong, Terence ; Chowdhury, Shimul ; Wright, Meredith S. ; Dimmock, David ; Bezares, Zaira ; Bloss, Cinnamon ; Braun, Joshua J.A. ; Diaz, Carlos ; Mashburn, Dana ; Tamang, Dorjee ; Orendain, Daniken ; Friedman, Jenni ; Gleeson, Joe ; Barea, Jaime ; Chiang, George ; Cohenmeyer, Casey ; Coufal, Nicole G. ; Evans, Marva ; Honold, Jose ; Hovey, Raymond L. ; Kimball, Amy ; Lane, Brian ; Le, Crystal ; Le, Jennie ; Leibel, Sandra ; Moyer, Laurel ; Mulrooney, Patrick ; Oh, Daeheon ; Ordonez, Paulina ; Oriol, Albert ; Ortiz-Arechiga, Maria ; Puckett, Laura ; Speziale, Mark ; Suttner, Denise ; Van Der Kraan, Lucitia ; Knight, Gail ; Sauer, Charles ; Song, Richard ; White, Sarah ; Wise, Audra ; Yamada, CatherineAmerican journal of human genetics, 2019-10, Vol.105 (4), p.719-733 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |
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2 |
Material Type: Artigo
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An RCT of Rapid Genomic Sequencing among Seriously Ill Infants Results in High Clinical Utility, Changes in Management, and Low Perceived HarmDimmock, David P ; Clark, Michelle M ; Gaughran, Mary ; Cakici, Julie A ; Caylor, Sara A ; Clarke, Christina ; Feddock, Michele ; Chowdhury, Shimul ; Salz, Lisa ; Cheung, Cynthia ; Bird, Lynne M ; Hobbs, Charlotte ; Wigby, Kristen ; Farnaes, Lauge ; Bloss, Cinnamon S ; Kingsmore, Stephen FAmerican journal of human genetics, 2020-11, Vol.107 (5), p.942-952 [Periódico revisado por pares]United States: ElsevierTexto completo disponível |
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3 |
Material Type: Artigo
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Rapid whole-genome sequencing decreases infant morbidity and cost of hospitalizationFarnaes, Lauge ; Hildreth, Amber ; Sweeney, Nathaly M ; Clark, Michelle M ; Chowdhury, Shimul ; Nahas, Shareef ; Cakici, Julie A ; Benson, Wendy ; Kaplan, Robert H ; Kronick, Richard ; Bainbridge, Matthew N ; Friedman, Jennifer ; Gold, Jeffrey J ; Ding, Yan ; Veeraraghavan, Narayanan ; Dimmock, David ; Kingsmore, Stephen FNpj genomic medicine, 2018-04, Vol.3 (1), p.10-8, Article 10 [Periódico revisado por pares]England: Nature Publishing GroupTexto completo disponível |
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4 |
Material Type: Artigo
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Diagnosis of cytomegalovirus infection from clinical whole genome sequencingRamchandar, Nanda ; Ding, Yan ; Farnaes, Lauge ; Dimmock, David ; Hobbs, Charlotte ; Kingsmore, Stephen F ; Bainbridge, MatthewScientific reports, 2020-07, Vol.10 (1), p.11020-11020, Article 11020 [Periódico revisado por pares]England: Nature Publishing GroupTexto completo disponível |
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5 |
Material Type: Artigo
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Clinical application of cell-free next-generation sequencing for infectious diseases at a tertiary children’s hospitalWilke, Julianne ; Ramchandar, Nanda ; Cannavino, Christopher ; Pong, Alice ; Tremoulet, Adriana ; Padua, Leidy Tovar ; Harvey, Helen ; Foley, Jennifer ; Farnaes, Lauge ; Coufal, Nicole GBMC infectious diseases, 2021-06, Vol.21 (1), p.1-552, Article 552 [Periódico revisado por pares]London: BioMed Central LtdTexto completo disponível |
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6 |
Material Type: Artigo
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Recognizing that the microbiome is part of the human immune system will advance treatment of both cancer and infectionsGallo, Richard L., MD, PhD ; Hultsch, Thomas, MD ; Farnaes, Lauge, MD, PhDJournal of the American Academy of Dermatology, 2016-04, Vol.74 (4), p.772-774 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |
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7 |
Material Type: Artigo
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Napyradiomycin Derivatives, Produced by a Marine-Derived Actinomycete, Illustrate Cytotoxicity by Induction of ApoptosisFarnaes, Lauge ; Coufal, Nicole G ; Kauffman, Christopher A ; Rheingold, Arnold L ; DiPasquale, Antonio G ; Jensen, Paul R ; Fenical, WilliamJournal of natural products (Washington, D.C.), 2014-01, Vol.77 (1), p.15-21 [Periódico revisado por pares]United States: American Chemical Society and American Society of PharmacognosyTexto completo disponível |
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8 |
Material Type: Artigo
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Rapid Diagnosis of KCNQ2-Associated Early Infantile Epileptic Encephalopathy Improved OutcomeChen, Dillon Y. ; Chowdhury, Shimul ; Farnaes, Lauge ; Friedman, Jennifer R. ; Honold, Jose ; Dimmock, David P. ; Gold, on behalf of the RCIGM investigators, Jeffrey J.Pediatric neurology, 2018-09, Vol.86, p.69-70 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |
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9 |
Material Type: Artigo
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Cost Efficacy of Rapid Whole Genome Sequencing in the Pediatric Intensive Care UnitSanford Kobayashi, Erica ; Waldman, Bryce ; Engorn, Branden M ; Perofsky, Katherine ; Allred, Erika ; Briggs, Benjamin ; Gatcliffe, Chelsea ; Ramchandar, Nanda ; Gold, Jeffrey J ; Doshi, Ami ; Ingulli, Elizabeth G ; Thornburg, Courtney D ; Benson, Wendy ; Farnaes, Lauge ; Chowdhury, Shimul ; Rego, Seema ; Hobbs, Charlotte ; Kingsmore, Stephen F ; Dimmock, David P ; Coufal, Nicole GFrontiers in pediatrics, 2022-01, Vol.9, p.809536-809536 [Periódico revisado por pares]Switzerland: Frontiers Media S.ATexto completo disponível |
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10 |
Material Type: Artigo
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Diagnosis and treatment of a boy with IPEX syndrome presenting with diabetes in early infancyKadakia, Sejal ; Farnaes, Lauge ; Dimmock, David ; Chowdhury, Shimul ; Ding, Yan ; Anderson, Eric J. ; Kingsmore, Stephen ; Newfield, Ron S.Clinical case reports, 2019-11, Vol.7 (11), p.2123-2127 [Periódico revisado por pares]England: John Wiley & Sons, IncTexto completo disponível |