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

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

Provision and availability of genomic medicine services in Level IV neonatal intensive care units

四级新生儿重症监护病房基因组医学服务的提供和可用性

Wojcik, Monica H; Callahan, Katharine P; Antoniou, Austin; Del Rosario, Maya C; Brunelli, Luca; ElHassan, Nahed O; Gogcu, Semsa; Murthy, Karna; Rumpel, Jennifer A; Wambach, Jennifer A; Suhrie, Kristen; Fishler, Kristen; Chaudhari, Bimal P

Repeatable battery for the assessment of neuropsychological status and its relationship to biomarkers of Alzheimer's disease

用于评估神经心理状态及其与阿尔茨海默病生物标志物关系的可重复性测试

Duff, Kevin; Suhrie, Kayla R; Hammers, Dustin B; Dixon, Ava M; King, Jace B; Koppelmans, Vincent; Hoffman, John M

Predicting daily functioning with the modified Telephone Interview for Cognitive Status

利用改良版电话认知状态访谈预测日常功能

Dixon, Ava; Porter, Sariah; Suhrie, Kayla; Hammers, Dustin; Duff, Kevin

Computerized Cognitive Training in Amnestic Mild Cognitive Impairment: A Randomized Clinical Trial

计算机化认知训练对遗忘型轻度认知障碍患者的疗效:一项随机临床试验

Duff, Kevin; Ying, Jian; Suhrie, Kayla R; Dalley, Bonnie C A; Atkinson, Taylor J; Porter, Sariah M; Dixon, Ava M; Hammers, Dustin B; Wolinsky, Fredric D

Characterization of a novel deep-intronic variant in DYNC2H1 identified by whole-exome sequencing in a patient with a lethal form of a short-rib thoracic dysplasia type III

通过全外显子组测序鉴定出患有致命型 III 型短肋胸椎发育不良患者的 DYNC2H1 基因中一种新型深内含子变异

Muqsit Buchh #, Patrick J Gillespie #, Kayla Treat, Marco A Abreu, Tae-Hwi Linus Schwantes-An, Benjamin M Helm, Fang Fang, Xiaoling Xuei, Lili Mantcheva, Kristen R Suhrie, Brett H Graham, Erin Conboy #, Francesco Vetrini #

Relationship between a novel learning slope metric and Alzheimer's disease biomarkers

一种新型学习斜率指标与阿尔茨海默病生物标志物之间的关系

Hammers, Dustin B; Suhrie, Kayla; Dixon, Ava; Gradwohl, Brian D; Archibald, Zane G; King, Jace B; Spencer, Robert J; Duff, Kevin; Hoffman, John M

Validation of HVLT-R, BVMT-R, and RBANS Learning Slope Scores along the Alzheimer's Continuum

阿尔茨海默病连续谱中 HVLT-R、BVMT-R 和 RBANS 学习斜率评分的验证

Hammers, Dustin B; Suhrie, Kayla; Dixon, Ava; Gradwohl, Brian D; Duff, Kevin; Spencer, Robert J

Novel Variant Findings and Challenges Associated With the Clinical Integration of Genomic Testing: An Interim Report of the Genomic Medicine for Ill Neonates and Infants (GEMINI) Study

基因组检测临床应用的新变异发现及挑战:新生儿和婴儿基因组医学(GEMINI)研究中期报告

Maron, Jill L; Kingsmore, Stephen F; Wigby, Kristen; Chowdhury, Shimul; Dimmock, David; Poindexter, Brenda; Suhrie, Kristen; Vockley, Jerry; Diacovo, Thomas; Gelb, Bruce D; Stroustrup, Annemarie; Powell, Cynthia M; Trembath, Andrea; Gallen, Matthew; Mullen, Thomas E; Tanpaiboon, Pranoot; Reed, Dallas; Kurfiss, Anne; Davis, Jonathan M

Predicting biomarkers in intact older adults and those with amnestic Mild Cognitive Impairment, and mild Alzheimer's Disease using the Repeatable Battery for the Assessment of Neuropsychological Status

利用可重复神经心理状态评估量表预测认知功能正常的年长者、患有遗忘型轻度认知障碍和轻度阿尔茨海默病的个体的生物标志物

Suhrie, Kayla R; Hammers, Dustin B; Porter, Sariah M; Dixon, Ava M; King, Jace B; Anderson, Jeffrey S; Duff, Kevin; Hoffman, John M