日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Effect of Whole-Genome Sequencing on the Clinical Management of Acutely Ill Infants With Suspected Genetic Disease: A Randomized Clinical Trial

全基因组测序对疑似遗传病急性病婴临床管理的影响:一项随机临床试验

Krantz, Ian D; Medne, Livija; Weatherly, Jamila M; Wild, K Taylor; Biswas, Sawona; Devkota, Batsal; Hartman, Tiffiney; Brunelli, Luca; Fishler, Kristen P; Abdul-Rahman, Omar; Euteneuer, Joshua C; Hoover, Denise; Dimmock, David; Cleary, John; Farnaes, Lauge; Knight, Jason; Schwarz, Adam J; Vargas-Shiraishi, Ofelia M; Wigby, Kristin; Zadeh, Neda; Shinawi, Marwan; Wambach, Jennifer A; Baldridge, Dustin; Cole, F Sessions; Wegner, Daniel J; Urraca, Nora; Holtrop, Shannon; Mostafavi, Roya; Mroczkowski, Henry J; Pivnick, Eniko K; Ward, Jewell C; Talati, Ajay; Brown, Chester W; Belmont, John W; Ortega, Julia L; Robinson, Keisha D; Brocklehurst, W Tyler; Perry, Denise L; Ajay, Subramanian S; Hagelstrom, R Tanner; Bennett, Maren; Rajan, Vani; Taft, Ryan J

Project Baby Bear: Rapid precision care incorporating rWGS in 5 California children's hospitals demonstrates improved clinical outcomes and reduced costs of care

“小熊计划”:在加州五家儿童医院开展的快速精准护理,结合快速全基因组测序(rWGS),证实可改善临床疗效并降低医疗成本。

Dimmock, David; Caylor, Sara; Waldman, Bryce; Benson, Wendy; Ashburner, Christina; Carmichael, Jason L; Carroll, Jeanne; Cham, Elaine; Chowdhury, Shimul; Cleary, John; D'Harlingue, Arthur; Doshi, A; Ellsworth, Katarzyna; Galarreta, Carolina I; Hobbs, Charlotte; Houtchens, Kathleen; Hunt, Juliette; Joe, Priscilla; Joseph, Maries; Kaplan, Robert H; Kingsmore, Stephen F; Knight, Jason; Kochhar, Aaina; Kronick, Richard G; Limon, Jolie; Martin, Madelena; Rauen, Katherine A; Schwarz, Adam; Shankar, Suma P; Spicer, Rosanna; Rojas, Mario Augusto; Vargas-Shiraishi, Ofelia; Wigby, Kristen; Zadeh, Neda; Farnaes, Lauge

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

在一家三级儿童医院,无细胞二代测序技术在传染病临床应用中的研究

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

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

快速全基因组测序在儿科重症监护病房的成本效益

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

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

一项针对重症婴儿的快速基因组测序随机对照试验表明,该技术具有很高的临床实用性,能够改变治疗方案,且患者感知到的危害较低。

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

Two cases of type-a Haemophilus influenzae meningitis within the same week in the same hospital are phylogenetically unrelated but recently exchanged capsule genes

同一家医院一周内发生的两例甲型流感嗜血杆菌脑膜炎病例,在系统发育上无关,但近期发生了荚膜基因交换。

Terrat, Yves; Farnaes, Lauge; Bradley, John; Tromas, Nicolas; Shapiro, B Jesse

Diagnosis of genetic diseases in seriously ill children by rapid whole-genome sequencing and automated phenotyping and interpretation

利用快速全基因组测序和自动化表型分析与解读技术诊断重症儿童的遗传疾病

Clark, Michelle M; Hildreth, Amber; Batalov, Sergey; Ding, Yan; Chowdhury, Shimul; Watkins, Kelly; Ellsworth, Katarzyna; Camp, Brandon; Kint, Cyrielle I; Yacoubian, Calum; Farnaes, Lauge; Bainbridge, Matthew N; Beebe, Curtis; Braun, Joshua J A; Bray, Margaret; Carroll, Jeanne; Cakici, Julie A; Caylor, Sara A; Clarke, Christina; Creed, Mitchell P; Friedman, Jennifer; Frith, Alison; Gain, Richard; Gaughran, Mary; George, Shauna; Gilmer, Sheldon; Gleeson, Joseph; Gore, Jeremy; Grunenwald, Haiying; Hovey, Raymond L; Janes, Marie L; Lin, Kejia; McDonagh, Paul D; McBride, Kyle; Mulrooney, Patrick; Nahas, Shareef; Oh, Daeheon; Oriol, Albert; Puckett, Laura; Rady, Zia; Reese, Martin G; Ryu, Julie; Salz, Lisa; Sanford, Erica; Stewart, Lawrence; Sweeney, Nathaly; Tokita, Mari; Van Der Kraan, Luca; White, Sarah; Wigby, Kristen; Williams, Brett; Wong, Terence; Wright, Meredith S; Yamada, Catherine; Schols, Peter; Reynders, John; Hall, Kevin; Dimmock, David; Veeraraghavan, Narayanan; Defay, Thomas; Kingsmore, Stephen F

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

一项关于单例和三例快速基因组和外显子组测序在患病婴儿中分析和诊断性能的随机对照试验

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

Genomic sequencing in acutely ill infants: what will it take to demonstrate clinical value?

对急性病患儿进行基因组测序:如何才能证明其临床价值?

Grosse, Scott D; Farnaes, Lauge

Rapid Whole Genome Sequencing Has Clinical Utility in Children in the PICU

快速全基因组测序在儿科重症监护室患儿中具有临床应用价值。

Sanford, Erica F; Clark, Michelle M; Farnaes, Lauge; Williams, Matthew R; Perry, James C; Ingulli, Elizabeth G; Sweeney, Nathaly M; Doshi, Ami; Gold, Jeffrey J; Briggs, Benjamin; Bainbridge, Matthew N; Feddock, Michele; Watkins, Kelly; Chowdhury, Shimul; Nahas, Shareef A; Dimmock, David P; Kingsmore, Stephen F; Coufal, Nicole G