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

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

Rapid Sequencing-Based Diagnosis of Thiamine Metabolism Dysfunction Syndrome

基于快速测序的硫胺素代谢功能障碍综合征诊断

Owen, Mallory J; Niemi, Anna-Kaisa; Dimmock, David P; Speziale, Mark; Nespeca, Mark; Chau, Kevin K; Van Der Kraan, Luca; Wright, Meredith S; Hansen, Christian; Veeraraghavan, Narayanan; Ding, Yan; Lenberg, Jerica; Chowdhury, Shimul; Hobbs, Charlotte A; Batalov, Sergey; Zhu, Zhanyang; Nahas, Shareef A; Gilmer, Sheldon; Knight, Gail; Lefebvre, Sebastien; Reynders, John; Defay, Thomas; Weir, Jacqueline; Thomson, Vicki S; Fraser, Louise; Lajoie, Bryan R; McPhail, Tim K; Mehtalia, Shyamal S; Kunard, Chris M; Hall, Kevin P; Kingsmore, Stephen F