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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 Infants
A Randomized, Controlled Trial of the Analytic and Diagnostic Performance of Singleton and Trio, Rapid Genome and Exome Sequencing in Ill Infants
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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 Infants

Kingsmore, 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, Catherine

American journal of human genetics, 2019-10, Vol.105 (4), p.719-733 [Periódico revisado por pares]

United States: Elsevier Inc

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2
An RCT of Rapid Genomic Sequencing among Seriously Ill Infants Results in High Clinical Utility, Changes in Management, and Low Perceived Harm
An RCT of Rapid Genomic Sequencing among Seriously Ill Infants Results in High Clinical Utility, Changes in Management, and Low Perceived Harm
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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 Harm

Dimmock, 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 F

American journal of human genetics, 2020-11, Vol.107 (5), p.942-952 [Periódico revisado por pares]

United States: Elsevier

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3
Rapid whole-genome sequencing decreases infant morbidity and cost of hospitalization
Rapid whole-genome sequencing decreases infant morbidity and cost of hospitalization
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Rapid whole-genome sequencing decreases infant morbidity and cost of hospitalization

Farnaes, 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 F

Npj genomic medicine, 2018-04, Vol.3 (1), p.10-8, Article 10 [Periódico revisado por pares]

England: Nature Publishing Group

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4
Diagnosis of cytomegalovirus infection from clinical whole genome sequencing
Diagnosis of cytomegalovirus infection from clinical whole genome sequencing
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Diagnosis of cytomegalovirus infection from clinical whole genome sequencing

Ramchandar, Nanda ; Ding, Yan ; Farnaes, Lauge ; Dimmock, David ; Hobbs, Charlotte ; Kingsmore, Stephen F ; Bainbridge, Matthew

Scientific reports, 2020-07, Vol.10 (1), p.11020-11020, Article 11020 [Periódico revisado por pares]

England: Nature Publishing Group

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5
Clinical application of cell-free next-generation sequencing for infectious diseases at a tertiary children’s hospital
Clinical application of cell-free next-generation sequencing for infectious diseases at a tertiary children’s hospital
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Clinical application of cell-free next-generation sequencing for infectious diseases at a tertiary children’s hospital

Wilke, Julianne ; Ramchandar, Nanda ; Cannavino, Christopher ; Pong, Alice ; Tremoulet, Adriana ; Padua, Leidy Tovar ; Harvey, Helen ; Foley, Jennifer ; Farnaes, Lauge ; Coufal, Nicole G

BMC infectious diseases, 2021-06, Vol.21 (1), p.1-552, Article 552 [Periódico revisado por pares]

London: BioMed Central Ltd

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6
Recognizing that the microbiome is part of the human immune system will advance treatment of both cancer and infections
Recognizing that the microbiome is part of the human immune system will advance treatment of both cancer and infections
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Recognizing that the microbiome is part of the human immune system will advance treatment of both cancer and infections

Gallo, Richard L., MD, PhD ; Hultsch, Thomas, MD ; Farnaes, Lauge, MD, PhD

Journal of the American Academy of Dermatology, 2016-04, Vol.74 (4), p.772-774 [Periódico revisado por pares]

United States: Elsevier Inc

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7
Napyradiomycin Derivatives, Produced by a Marine-Derived Actinomycete, Illustrate Cytotoxicity by Induction of Apoptosis
Napyradiomycin Derivatives, Produced by a Marine-Derived Actinomycete, Illustrate Cytotoxicity by Induction of Apoptosis
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Napyradiomycin Derivatives, Produced by a Marine-Derived Actinomycete, Illustrate Cytotoxicity by Induction of Apoptosis

Farnaes, Lauge ; Coufal, Nicole G ; Kauffman, Christopher A ; Rheingold, Arnold L ; DiPasquale, Antonio G ; Jensen, Paul R ; Fenical, William

Journal 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 Pharmacognosy

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8
Rapid Diagnosis of KCNQ2-Associated Early Infantile Epileptic Encephalopathy Improved Outcome
Rapid Diagnosis of KCNQ2-Associated Early Infantile Epileptic Encephalopathy Improved Outcome
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Rapid Diagnosis of KCNQ2-Associated Early Infantile Epileptic Encephalopathy Improved Outcome

Chen, 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 Inc

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9
Cost Efficacy of Rapid Whole Genome Sequencing in the Pediatric Intensive Care Unit
Cost Efficacy of Rapid Whole Genome Sequencing in the Pediatric Intensive Care Unit
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Cost Efficacy of Rapid Whole Genome Sequencing in the Pediatric Intensive Care Unit

Sanford 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 G

Frontiers in pediatrics, 2022-01, Vol.9, p.809536-809536 [Periódico revisado por pares]

Switzerland: Frontiers Media S.A

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10
Diagnosis and treatment of a boy with IPEX syndrome presenting with diabetes in early infancy
Diagnosis and treatment of a boy with IPEX syndrome presenting with diabetes in early infancy
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Diagnosis and treatment of a boy with IPEX syndrome presenting with diabetes in early infancy

Kadakia, 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, Inc

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