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

Novel bi-allelic variants expand the SPTBN4-related genetic and phenotypic spectrum

新的双等位基因变异扩展了SPTBN4相关的遗传和表型谱。

Buelow, Markus; Süßmuth, David; Smith, Laurie D; Aryani, Omid; Castiglioni, Claudia; Stenzel, Werner; Bertini, Enrico; Schuelke, Markus; Knierim, Ellen

The NSIGHT1-randomized controlled trial: rapid whole-genome sequencing for accelerated etiologic diagnosis in critically ill infants

NSIGHT1随机对照试验:快速全基因组测序加速危重婴儿病因诊断

Petrikin, Josh E; Cakici, Julie A; Clark, Michelle M; Willig, Laurel K; Sweeney, Nathaly M; Farrow, Emily G; Saunders, Carol J; Thiffault, Isabelle; Miller, Neil A; Zellmer, Lee; Herd, Suzanne M; Holmes, Anne M; Batalov, Serge; Veeraraghavan, Narayanan; Smith, Laurie D; Dimmock, David P; Leeder, J Steven; Kingsmore, Stephen F

Whole-genome sequencing for identification of Mendelian disorders in critically ill infants: a retrospective analysis of diagnostic and clinical findings

利用全基因组测序鉴定危重婴儿孟德尔遗传病:诊断和临床结果的回顾性分析

Willig, Laurel K; Petrikin, Josh E; Smith, Laurie D; Saunders, Carol J; Thiffault, Isabelle; Miller, Neil A; Soden, Sarah E; Cakici, Julie A; Herd, Suzanne M; Twist, Greyson; Noll, Aaron; Creed, Mitchell; Alba, Patria M; Carpenter, Shannon L; Clements, Mark A; Fischer, Ryan T; Hays, J Allyson; Kilbride, Howard; McDonough, Ryan J; Rosterman, Jamie L; Tsai, Sarah L; Zellmer, Lee; Farrow, Emily G; Kingsmore, Stephen F

MMP21 is mutated in human heterotaxy and is required for normal left-right asymmetry in vertebrates

MMP21基因突变与人类异位症有关,并且是脊椎动物正常左右不对称所必需的。

Guimier, Anne; Gabriel, George C; Bajolle, Fanny; Tsang, Michael; Liu, Hui; Noll, Aaron; Schwartz, Molly; El Malti, Rajae; Smith, Laurie D; Klena, Nikolai T; Jimenez, Gina; Miller, Neil A; Oufadem, Myriam; Moreau de Bellaing, Anne; Yagi, Hisato; Saunders, Carol J; Baker, Candice N; Di Filippo, Sylvie; Peterson, Kevin A; Thiffault, Isabelle; Bole-Feysot, Christine; Cooley, Linda D; Farrow, Emily G; Masson, Cécile; Schoen, Patric; Deleuze, Jean-François; Nitschké, Patrick; Lyonnet, Stanislas; de Pontual, Loic; Murray, Stephen A; Bonnet, Damien; Kingsmore, Stephen F; Amiel, Jeanne; Bouvagnet, Patrice; Lo, Cecilia W; Gordon, Christopher T

A 26-hour system of highly sensitive whole genome sequencing for emergency management of genetic diseases

用于遗传疾病应急管理的26小时高灵敏度全基因组测序系统

Miller, Neil A; Farrow, Emily G; Gibson, Margaret; Willig, Laurel K; Twist, Greyson; Yoo, Byunggil; Marrs, Tyler; Corder, Shane; Krivohlavek, Lisa; Walter, Adam; Petrikin, Josh E; Saunders, Carol J; Thiffault, Isabelle; Soden, Sarah E; Smith, Laurie D; Dinwiddie, Darrell L; Herd, Suzanne; Cakici, Julie A; Catreux, Severine; Ruehle, Mike; Kingsmore, Stephen F

Whole-Exome Sequencing and Whole-Genome Sequencing in Critically Ill Neonates Suspected to Have Single-Gene Disorders

对疑似患有单基因疾病的危重新生儿进行全外显子组测序和全基因组测序

Smith, Laurie D; Willig, Laurel K; Kingsmore, Stephen F

Loss of function variants in human PNPLA8 encoding calcium-independent phospholipase A2 γ recapitulate the mitochondriopathy of the homologous null mouse

人类PNPLA8基因中编码钙非依赖性磷脂酶A2γ的功能缺失变异体,能够重现同源基因敲除小鼠的线粒体病变。

Saunders, Carol J; Moon, Sung Ho; Liu, Xinping; Thiffault, Isabelle; Coffman, Keith; LePichon, Jean-Baptiste; Taboada, Eugenio; Smith, Laurie D; Farrow, Emily G; Miller, Neil; Gibson, Margaret; Patterson, Melanie; Kingsmore, Stephen F; Gross, Richard W