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

The Electronic Medical Records and Genomics study: Design and analytic framework for assessing the impact of genome-informed risk assessments

电子病历与基因组学研究:评估基因组信息风险评估影响的设计和分析框架

Limdi, Nita; Beasley, T Mark; Cortopassi, Josh; Davis, Brittney; Bangash, Hana; Chen, Jingheng; Chisholm, Rex L; Chung, Wendy K; Cimino, James J; Connolly, John; Crosslin, David R; Davis, Kyle W; DiVietro, Alanna; Esplin, Edward D; Freimuth, Bob; Gordon, Adam; Hakonarson, Hakon; Hamed, Marwan; He, Megan; Hoell, Christin; Holm, Ingrid; Hripscak, George; Irvin, Margurite R; Jarvik, Gail P; Karavite, Dean; Karlson, Elizabeth W; Kenny, Eimear E; Khan, Atlas; Kiryluk, Krzysztof; Knerr, Sarah; Korf, Bruce; Kottyan, Leah; Kullo, Iftikhar; Larkin, Katie; Lennon, Niall; Linder, Jodell E; Manolio, Teri; Martin, Lisa J; McNally, Elizabeth M; Morse, Jennifer; Murphy, Shawn; Namjou, Bahram; Odgis, Jacqueline A; Orlando, Lori; Pacheco, Jennifer; Peterson, Josh F; Pineda-Alvarez, Daniel E; Prows, Cindy; Puckelwartz, Megan; Purcell, Jasmine; Rasmussen-Torvik, Laura; Rehm, Heidi; Roden, Dan M; Rosenthal, Elisabeth A; Rowley, Robb; Sabatello, Maya; Schaid, Daniel; Sharp, Richard; Smith, Johanna L; Smoller, Jordan W; Soper, Emily R; Sterling, Rene; Suckiel, Sabrina A; Terek, Shannon; Thayer, Jeritt; Ting, Yi-Lee; Tiwari, Hemant; Velez-Edwards, Digna; Wagholikar, Kavishwar B; Walunas, Theresa; Wei, Wei-Qi; Weng, Chunua; Wiesner, Georgia; Abul-Husn, Noura S; Veenstra, David L

Advancing the science of genomic learning healthcare systems

推进基因组学习医疗保健系统的科学发展

Manolio, Teri A; Rider, Renee; Bult, Carol J; Chisholm, Rex L; Deverka, Patricia A; Ginsburg, Geoffrey S; Green, Eric D; Jarvik, Gail P; Mensah, George A; Narula, Jahnavi; Ramos, Erin M; Relling, Mary V; Roden, Dan M; Rowley, Robb; Abul-Husn, Noura S; Buchanan, Adam H; Chute, Christopher G; Del Fiol, Guilherme; Elhanan, Gai; Haga, Susanne B; Hamid, Rizwan; Horowitz, Carol R; Hulick, Peter J; James, Cynthia A; Jeff, Janina M; Korf, Bruce; Landry, Latrice; McGraw, Deven; McLeod, Howard L; Mendelsohn, Nancy J; Osterman, Travis; Taylor, Casey Overby; Pritchard, Daryl; Rehm, Heidi L; Tsosie, Krystal S; Vassy, Jason L; Watson, Karriem; Wiley, Ken Jr; Williams, Marc S

Disease-causing mutations in the G protein β5 β-propeller disrupt its chaperonin-mediated folding trajectory.

G 蛋白 β5 β-螺旋桨的致病突变会破坏其分子伴侣介导的折叠轨迹

Sass Mikaila I, Mack Deirdre C, Nickles Riley A, Jones Caelen A, Brunsdale Rex L, Cottam Samuel L, Shen Peter S, Willardson Barry M

Managing differential performance of polygenic risk scores across groups: Real-world experience of the eMERGE Network

管理多基因风险评分在不同群体间的差异性表现:eMERGE 网络的真实世界经验

Lewis, Anna C F; Chisholm, Rex L; Connolly, John J; Esplin, Edward D; Glessner, Joe; Gordon, Adam; Green, Robert C; Hakonarson, Hakon; Harr, Margaret; Holm, Ingrid A; Jarvik, Gail P; Karlson, Elizabeth; Kenny, Eimear E; Kottyan, Leah; Lennon, Niall; Linder, Jodell E; Luo, Yuan; Martin, Lisa J; Perez, Emma; Puckelwartz, Megan J; Rasmussen-Torvik, Laura J; Sabatello, Maya; Sharp, Richard R; Smoller, Jordan W; Sterling, Rene; Terek, Shannon; Wei, Wei-Qi; Fullerton, Stephanie M

Genomic medicine year in review: 2024

基因组医学年度回顾:2024 年

Manolio, Teri A; Narula, Jahnavi; Rupert, Alauna; Bult, Carol J; Chisholm, Rex L; Ginsburg, Geoffrey S; Green, Eric D; Hooker, Gillian; Jarvik, Gail P; Mensah, George A; Ramos, Erin M; Roden, Dan M; Rowley, Robb; Taylor, Casey Overby; Williams, Marc S

Kinetics of Nirogacestat-Mediated Increases in B-cell Maturation Antigen on Plasma Cells Inform Therapeutic Combinations in Multiple Myeloma

尼罗加司他介导的浆细胞上B细胞成熟抗原增加的动力学研究为多发性骨髓瘤的联合治疗提供了信息

Todd Shearer ,Melissa Comstock ,Rex L Williams Jr ,Mark C Johnson ,Ewa Cendrowicz ,Cathrine Leonowens ,Margaret Smith ,Todd M Baughman ,Caroline J Breitbach ,Shinta Cheng ,Damian J Green

Northwestern University resource and education development initiatives to advance collaborative artificial intelligence across the learning health system

西北大学资源和教育发展计划,旨在推进整个学习型医疗系统中的协作人工智能。

Luo, Yuan; Mao, Chengsheng; Sanchez-Pinto, Lazaro N; Ahmad, Faraz S; Naidech, Andrew; Rasmussen, Luke; Pacheco, Jennifer A; Schneider, Daniel; Mithal, Leena B; Dresden, Scott; Holmes, Kristi; Carson, Matthew; Shah, Sanjiv J; Khan, Seema; Clare, Susan; Wunderink, Richard G; Liu, Huiping; Walunas, Theresa; Cooper, Lee; Yue, Feng; Wehbe, Firas; Fang, Deyu; Liebovitz, David M; Markl, Michael; Michelson, Kelly N; McColley, Susanna A; Green, Marianne; Starren, Justin; Ackermann, Ronald T; D'Aquila, Richard T; Adams, James; Lloyd-Jones, Donald; Chisholm, Rex L; Kho, Abel

From Calculation to Communication: Using Risk Score Calculators to Inform Clinical Decision Making and Facilitate Patient Engagement

从计算到沟通:利用风险评分计算器指导临床决策并促进患者参与

Fakhari, Hoda; Scherr, Courtney L; Moe, Sydney; Hoell, Christin; Smith, Maureen E; Rasmussen-Torvik, Laura J; Chisholm, Rex L; McNally, Elizabeth M

Prospective, multi-site study of healthcare utilization after actionable monogenic findings from clinical sequencing

一项前瞻性、多中心研究,旨在评估临床测序中发现可操作的单基因后医疗保健利用情况。

Linder, Jodell E; Tao, Ran; Chung, Wendy K; Kiryluk, Krzysztof; Liu, Cong; Weng, Chunhua; Connolly, John J; Hakonarson, Hakon; Harr, Margaret; Leppig, Kathleen A; Jarvik, Gail P; Veenstra, David L; Aufox, Sharon; Chisholm, Rex L; Gordon, Adam S; Hoell, Christin; Rasmussen-Torvik, Laura J; Smith, Maureen E; Holm, Ingrid A; Miller, Erin M; Prows, Cynthia A; Elskeally, Omar; Kullo, Iftikhar J; Lee, Christopher; Jose, Sheethal; Manolio, Teri A; Rowley, Robb; Padi-Adjirackor, Nana Addo; Wilmayani, Ni Ketut; City, Brittany; Wei, Wei-Qi; Wiesner, Georgia L; Rahm, Alanna Kulchak; Williams, Janet L; Williams, Marc S; Peterson, Josh F

Genomic medicine year in review: 2023

基因组医学年度回顾:2023年

Manolio, Teri A; Narula, Jahnavi; Bult, Carol J; Chisholm, Rex L; Deverka, Patricia A; Ginsburg, Geoffrey S; Green, Eric D; Hooker, Gillian; Jarvik, Gail P; Mensah, George A; Ramos, Erin M; Roden, Dan M; Rowley, Robb; Williams, Marc S