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

Joint, multifaceted genomic analysis enables diagnosis of diverse, ultra-rare monogenic presentations

联合、多方面的基因组分析能够诊断各种极其罕见的单基因疾病。

Kobren, Shilpa Nadimpalli; Moldovan, Mikhail A; Reimers, Rebecca; Traviglia, Daniel; Li, Xinyun; Barnum, Danielle; Veit, Alexander; Corona, Rosario I; Carvalho Neto, George de V; Willett, Julian; Berselli, Michele; Ronchetti, William; Nelson, Stanley F; Martinez-Agosto, Julian A; Sherwood, Richard; Krier, Joel; Kohane, Isaac S; Sunyaev, Shamil R

A machine learning decision support tool optimizes WGS utilization in a neonatal intensive care unit

机器学习决策支持工具优化新生儿重症监护病房中全基因组测序(WGS)的使用

Juarez, Edwin F; Peterson, Bennet; Sanford Kobayashi, Erica; Gilmer, Sheldon; Tobin, Laura E; Schultz, Brandan; Lenberg, Jerica; Carroll, Jeanne; Bai-Tong, Shiyu; Sweeney, Nathaly M; Beebe, Curtis; Stewart, Lawrence; Olsen, Lauren; Reinke, Julie; Kiernan, Elizabeth A; Reimers, Rebecca; Wigby, Kristen; Tackaberry, Chris; Yandell, Mark; Hobbs, Charlotte; Bainbridge, Matthew N

Advancing precision care in pregnancy through a treatable fetal findings list

通过可治疗的胎儿异常清单推进孕期精准医疗

Cohen, Jennifer L; Duyzend, Michael; Adelson, Sophia M; Yeo, Julie; Fleming, Mark; Ganetzky, Rebecca; Hale, Rebecca; Mitchell, Deborah M; Morton, Sarah U; Reimers, Rebecca; Roberts, Amy; Strong, Alanna; Tan, Weizhen; Thiagarajah, Jay R; Walker, Melissa A; Green, Robert C; Gold, Nina B

Clinical utility and cost-effectiveness of BeginNGS newborn screening by genome sequencing and standard newborn screening for severe childhood genetic diseases: an adaptive, international and comparative clinical trial

BeginNGS新生儿基因组测序筛查与标准新生儿筛查在严重儿童遗传疾病筛查中的临床实用性和成本效益:一项适应性、国际性和比较性临床试验

Reimers, Rebecca; Bailey, Miranda; Brown, Chester; Chan, Kee; Defay, Tom; Finkel, Terri; Kahn, Scott; Protopsaltis, Liana; Stoddard, Lauren; Talati, Ajay J; Wigby, Kristen; Akil, Ammira Sarah Al-Shabeeb; Wright, Meredith; Kingsmore, Stephen F

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

Prenatal diagnosis of sex chromosome aneuploidy-What do we tell the prospective parents?

产前诊断性染色体非整倍体——我们应该如何告知准父母?

Reimers, Rebecca; High, Frances; Kremen, Jessica; Wilkins-Haug, Louise

Validation of claims-based algorithms to identify non-live birth outcomes

验证基于索赔数据的算法以识别非活产结果

Zhu, Yanmin; Bateman, Brian T; Hernandez-Diaz, Sonia; Gray, Kathryn J; Straub, Loreen; Reimers, Rebecca M; Manning-Geist, Beryl; Yoselevsky, Elizabeth; Taylor, Lockwood G; Ouellet-Hellstrom, Rita; Ma, Yong; Qiang, Yandong; Hua, Wei; Huybrechts, Krista F

Unique Challenges of NIPT for Sex Chromosome Aneuploidy

性染色体非整倍体无创产前检测的独特挑战

Wilkins-Haug, Louise; Reimers, Rebecca

Genetic diagnosis in the fetus

胎儿基因诊断

Wojcik, Monica H; Reimers, Rebecca; Poorvu, Tabitha; Agrawal, Pankaj B