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

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

Long-term follow-up of children who received rapid genomic sequencing

对接受快速基因组测序的儿童进行长期随访

Sanford Kobayashi, Erica; Tobin, Laura E; Arenchild, Madison; Benson, Wendy; Coufal, Nicole G; Juarez, Edwin F; Kingsmore, Stephen F; Knight, Jason; Lenberg, Jerica; Schwarz, Adam; Vargas-Shiraishi, Ofelia; Wigby, Kristen; Bainbridge, Matthew

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

Domain specific phenotypic expansion associated with variants in MACF1

MACF1基因变异相关的结构域特异性表型扩展

Gogate, Nikhita; Jolly, Angad; Rosenfeld, Jill A; Bahena-Carbajal, Paulina; Bernstein, Jonathan A; Bonner, Devon; Busa, Tiffany; Cristian, Ingrid; D'Souza, Precilla; Friedman, Jennifer; Gorokhova, Svetlana; Haaf, Thomas; Herman, Isabella; Isin, Ugur Ufuk; Jhangiani, Shalini N; Johnson, Ivy; Lenberg, Jerica; Macnamara, Ellen F; Maroofian, Reza; Redlich, Olivia L; Tifft, Cynthia; Tos, Tulay; Vona, Barbara; Zambrano, Regina M; Wentzensen, Ingrid M; Wigby, Kristen; Pehlivan, Davut; Gibbs, Richard A; Lupski, James R; Posey, Jennifer E

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

Evidence review and considerations for use of first line genome sequencing to diagnose rare genetic disorders

对使用一线基因组测序诊断罕见遗传疾病的证据审查和注意事项

Wigby, Kristen M; Brockman, Deanna; Costain, Gregory; Hale, Caitlin; Taylor, Stacie L; Belmont, John; Bick, David; Dimmock, David; Fernbach, Susan; Greally, John; Jobanputra, Vaidehi; Kulkarni, Shashikant; Spiteri, Elizabeth; Taft, Ryan J

Autosomal recessive VWA1-related disorder: comprehensive analysis of phenotypic variability and genetic mutations

常染色体隐性遗传VWA1相关疾病:表型变异和基因突变的综合分析

Nagy, Sara; Pagnamenta, Alistair T; Cali, Elisa; Braakman, Hilde M H; Wijntjes, Juerd; Kusters, Benno; Gotkine, Marc; Elpeleg, Orly; Meiner, Vardiella; Lenberg, Jerica; Wigby, Kristen; Friedman, Jennifer; Perry, Luke D; Rossor, Alexander M; Uhrova Meszarosova, Anna; Thomasova, Dana; Jacob, Saiju; O'Driscoll, Mary; De Simone, Lenika; Grange, Dorothy K; Sommerville, Richard; Firoozfar, Zahra; Alavi, Shahryar; Mazaheri, Mahta; Parmar, Jevin M; Lamont, Phillipa J; Pini, Veronica; Sarkozy, Anna; Muntoni, Francesco; Ravenscroft, Gianina; Jones, Eppie; O'Rourke, Declan; Nel, Melissa; Heckmann, Jeannine M; Kvalsund, Michelle; Kapapa, Musambo M; Wa Somwe, Somwe; Bearden, David R; Çakar, Arman; Childs, Anne-Marie; Horvath, Rita; Reilly, Mary M; Houlden, Henry; Maroofian, Reza

Rapid Whole-Genomic Sequencing and a Targeted Neonatal Gene Panel in Infants With a Suspected Genetic Disorder

对疑似遗传疾病婴儿进行快速全基因组测序和靶向新生儿基因检测

Maron, Jill L; Kingsmore, Stephen; Gelb, Bruce D; Vockley, Jerry; Wigby, Kristen; Bragg, Jennifer; Stroustrup, Annemarie; Poindexter, Brenda; Suhrie, Kristen; Kim, Jae H; Diacovo, Thomas; Powell, Cynthia M; Trembath, Andrea; Guidugli, Lucia; Ellsworth, Katarzyna A; Reed, Dallas; Kurfiss, Anne; Breeze, Janis L; Trinquart, Ludovic; Davis, Jonathan M

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