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

Metabolic Control and Frequency of Clinical Monitoring Among Canadian Children With Phenylalanine Hydroxylase Deficiency: A Retrospective Cohort Study

加拿大苯丙氨酸羟化酶缺乏症患儿的代谢控制和临床监测频率:一项回顾性队列研究

Yuskiv, Nataliya; Saad, Ammar; Potter, Beth K; Stockler-Ipsiroglu, Sylvia; Mitchell, John J; Hawken, Steven; Tingley, Kylie; Pugliese, Michael; Lamoureux, Monica; Chow, Andrea J; Kronick, Jonathan B; Wilson, Kumanan; Feigenbaum, Annette; Goobie, Sharan; Inbar-Feigenberg, Michal; Little, Julian; Mercimek-Andrews, Saadet; Pender, Amy; Prasad, Chitra; Schulze, Andreas; Trakadis, Yannis; Ho, Gloria; Vallance, Hilary; Austin, Valerie; Vandersteen, Anthony; Yu, Andrea C; Rockman-Greenberg, Cheryl; Mhanni, Aizeddin A; Chakraborty, Pranesh

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

Specifications of the ACMG/AMP guidelines for ACADVL variant interpretation

ACMG/AMP 指南中关于 ACADVL 变异解读的规范

Flowers, May; Dickson, Alexa; Miller, Marcus J; Spector, Elaine; Enns, Gregory Mark; Baudet, Heather; Pasquali, Marzia; Racacho, Lemuel; Sadre-Bazzaz, Kianoush; Wen, Ting; Fogarty, Melissa; Fernandez, Raquel; Weaver, Meredith A; Feigenbaum, Annette; Graham, Brett H; Mao, Rong

Characterization of a novel exonic deletion in the GALNS gene causing Morquio A syndrome

对导致 Morquio A 综合征的 GALNS 基因中一种新的外显子缺失进行表征

DeLong, Kathryn; Feigenbaum, Annette; Pollard, Laura; Lay, Andrew; Wood, Timothy

Challenges of managing ornithine transcarbamylase deficiency in female heterozygotes

女性杂合子鸟氨酸转氨甲酰酶缺乏症的治疗挑战

Feigenbaum, Annette

Considerations for prenatal and postpartum management of a female patient with ornithine transcarbamylase deficiency

鸟氨酸转氨甲酰酶缺乏症女性患者的产前和产后管理注意事项

Feigenbaum, Annette; Lamale-Smith, Leah; Weinstein, Lawrence

Long-term preservation of intellectual functioning in sapropterin-treated infants and young children with phenylketonuria: A seven-year analysis

沙丙蝶呤治疗苯丙酮尿症患儿及幼儿智力功能的长期维持:一项为期七年的分析

Waisbren, Susan; Burton, Barbara K; Feigenbaum, Annette; Konczal, Laura L; Lilienstein, Joshua; McCandless, Shawn E; Rowell, Richard; Sanchez-Valle, Amarilis; Whitehall, Kaleigh B; Longo, Nicola

Arginine to ornithine ratio as a diagnostic marker in patients with positive newborn screening for hyperargininemia

精氨酸与鸟氨酸比值作为新生儿高精氨酸血症筛查阳性患者的诊断标志物

Huang, Yue; Sharma, Rajesh; Feigenbaum, Annette; Lee, Chung; Sahai, Inderneel; Sanchez Russo, Rossana; Neira, Juanita; Brooks, Susan Sklower; Jackson, Kelly E; Wong, Derek; Cederbaum, Stephen; Lacbawan, Felicitas L; Rowland, Charles M; Tanpaiboon, Pranoot; Salazar, Denise