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

Genome-based newborn screening for severe childhood genetic diseases has high positive predictive value and sensitivity in a NICU pilot trial

在新生儿重症监护室(NICU)的试点试验中,基于基因组的新生儿筛查对严重儿童遗传疾病具有较高的阳性预测值和敏感性。

Kingsmore, Stephen F; Wright, Meredith; Olsen, Lauren; Schultz, Brandan; Protopsaltis, Liana; Averbuj, Dan; Blincow, Eric; Carroll, Jeanne; Caylor, Sara; Defay, Thomas; Ellsworth, Katarzyna; Feigenbaum, Annette; Gover, Mia; Guidugli, Lucia; Hansen, Christian; Van Der Kraan, Lucita; Kunard, Chris M; Kwon, Hugh; Madhavrao, Lakshminarasimha; Leipzig, Jeremy; Liang, Yupu; Mardach, Rebecca; Mowrey, William R; Nguyen, Hung; Niemi, Anna-Kaisa; Oh, Danny; Saad, Muhammed; Scharer, Gunter; Schleit, Jennifer; Mehtalia, Shyamal S; Sanford, Erica; Smith, Laurie D; Willis, Mary J; Wigby, Kristen; Reimers, Rebecca

Prequalification of genome-based newborn screening for severe childhood genetic diseases through federated training based on purifying hyperselection.

通过基于纯化超选择的联邦训练,对基于基因组的新生儿筛查进行严重儿童遗传疾病的预认证

Kingsmore Stephen F, Wright Meredith, Smith Laurie D, Liang Yupu, Mowrey William R, Protopsaltis Liana, Bainbridge Matthew, Baker Mei, Batalov Sergey, Blincow Eric, Cao Bryant, Caylor Sara, Chambers Christina, Ellsworth Katarzyna, Feigenbaum Annette, Frise Erwin, Guidugli Lucia, Hall Kevin P, Hansen Christian, Kiel Mark, Van Der Kraan Lucita, Krilow Chad, Kwon Hugh, Madhavrao Lakshminarasimha, Lefebvre Sebastien, Leipzig Jeremy, Mardach Rebecca, Moore Barry, Oh Danny, Olsen Lauren, Ontiveros Eric, Owen Mallory J, Reimers Rebecca, Scharer Gunter, Schleit Jennifer, Shelnutt Seth, Mehtalia Shyamal S, Oriol Albert, Sanford Erica, Schwartz Steve, Wigby Kristen, Willis Mary J, Yandell Mark, Kunard Chris M, Defay Thomas

Response to Grosse et al

对 Grosse 等人的回应

Kingsmore, Stephen F; Smith, Laurie D; Kunard, Chris M; Bainbridge, Matthew; Batalov, Sergey; Benson, Wendy; Blincow, Eric; Caylor, Sara; Chambers, Christina; Del Angel, Guillermo; Dimmock, David P; Ding, Yan; Ellsworth, Katarzyna; Feigenbaum, Annette; Frise, Erwin; Green, Robert C; Guidugli, Lucia; Hall, Kevin P; Hansen, Christian; Hobbs, Charlotte A; Kahn, Scott D; Kiel, Mark; Van Der Kraan, Lucita; Krilow, Chad; Kwon, Yong H; Madhavrao, Lakshminarasimha; Le, Jennie; Lefebvre, Sebastien; Mardach, Rebecca; Mowrey, William R; Oh, Danny; Owen, Mallory J; Powley, George; Scharer, Gunter; Shelnutt, Seth; Tokita, Mari; Mehtalia, Shyamal S; Oriol, Albert; Papadopoulos, Stavros; Perry, James; Rosales, Edwin; Sanford, Erica; Schwartz, Steve; Tran, Duke; Reese, Martin G; Wright, Meredith; Veeraraghavan, Narayanan; Wigby, Kristen; Willis, Mary J; Wolen, Aaron R; Defay, Thomas

Breaking Barriers to Rapid Whole Genome Sequencing in Pediatrics: Michigan's Project Baby Deer

突破儿科快速全基因组测序的障碍:密歇根州的“小鹿计划”

Bupp, Caleb P; Ames, Elizabeth G; Arenchild, Madison K; Caylor, Sara; Dimmock, David P; Fakhoury, Joseph D; Karna, Padmani; Lehman, April; Meghea, Cristian I; Misra, Vinod; Nolan, Danielle A; O'Shea, Jessica; Sharangpani, Aditi; Franck, Linda S; Scheurer-Monaghan, Andrea

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

Rapid whole genome sequencing impacts care and resource utilization in infants with congenital heart disease

快速全基因组测序影响先天性心脏病患儿的护理和资源利用

Sweeney, Nathaly M; Nahas, Shareef A; Chowdhury, Shimul; Batalov, Sergey; Clark, Michelle; Caylor, Sara; Cakici, Julie; Nigro, John J; Ding, Yan; Veeraraghavan, Narayanan; Hobbs, Charlotte; Dimmock, David; Kingsmore, Stephen F

Publisher Correction: Rapid whole genome sequencing impacts care and resource utilization in infants with congenital heart disease

出版商更正:快速全基因组测序影响先天性心脏病患儿的护理和资源利用

Sweeney, Nathaly M; Nahas, Shareef A; Chowdhury, Shimul; Batalov, Sergey; Clark, Michelle; Caylor, Sara; Cakici, Julie; Nigro, John J; Ding, Yan; Veeraraghavan, Narayanan; Hobbs, Charlotte; Dimmock, David; Kingsmore, Stephen F

Author Correction: Rapid whole genome sequencing impacts care and resource utilization in infants with congenital heart disease

作者更正:快速全基因组测序影响先天性心脏病患儿的护理和资源利用

Sweeney, Nathaly M; Nahas, Shareef A; Chowdhury, Shimul; Batalov, Sergey; Clark, Michelle; Caylor, Sara; Cakici, Julie; Nigro, John J; Ding, Yan; Veeraraghavan, Narayanan; Hobbs, Charlotte; Dimmock, David; Kingsmore, Stephen F

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

A Prospective Study of Parental Perceptions of Rapid Whole-Genome and -Exome Sequencing among Seriously Ill Infants

一项关于父母对重症婴儿快速全基因组和全外显子组测序看法的前瞻性研究

Cakici, Julie A; Dimmock, David P; Caylor, Sara A; Gaughran, Mary; Clarke, Christina; Triplett, Cynthia; Clark, Michelle M; Kingsmore, Stephen F; Bloss, Cinnamon S