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

An electronic review of clinical outcomes after return of actionable genetic research results from a health system research biobank

对医疗系统研究生物样本库返回可操作基因研究结果后的临床结果进行电子审查

Cocchella, Giorgio; Phung, Lillian; Wood, Elisabeth; Egleston, Brian; Hoffman-Andrews, Lily; Brown, Sarah; Ofidis, Demetrios; Mim, Rajia; Griffin, Hannah; Fetzer, Dominique; Owens, Anjali; Domchek, Susan; Pyeritz, Reed; Katona, Bryson W; Kallish, Staci; Sirugo, Giorgio; Weaver, JoEllen; Nathanson, Katherine L; Rader, Daniel J; Bradbury, Angela R

Leveraging Open-Source Large Language Models to Identify Undiagnosed Patients with Rare Genetic Aortopathies

利用开源大型语言模型识别未确诊的罕见遗传性主动脉病患者

Singhal, Pankhuri; Li, Zilinghan; Yang, Ze; Nandi, Tarak; Morse, Colleen; Rodriguez, Zachary; Rodriguez, Alex; Kindratenko, Volodymyr; Sirugo, Giorgio; Pyeritz, Reed E; Drivas, Theodore; Madduri, Ravi; Verma, Anurag

Facilitating return of actionable genetic research results from a biobank repository: Participant uptake and utilization of digital interventions

促进从生物样本库中获取可操作的基因研究结果:参与者对数字化干预措施的接受度和利用率

Phung, Lillian; Wood, Elisabeth; Egleston, Brian; Hoffman-Andrews, Lily; Ofidis, Demetrios; Howe, Sarah; Mim, Rajia; Griffin, Hannah; Fetzer, Dominique; Owens, Anjali; Domchek, Susan; Pyeritz, Reed; Katona, Bryson; Kallish, Staci; Sirugo, Giorgio; Weaver, JoEllen; Nathanson, Katherine L; Rader, Daniel J; Bradbury, Angela R

Vertebral Tortuosity Is Associated With Increased Rate of Cardiovascular Events in Vascular Ehlers-Danlos Syndrome

椎体扭曲与血管型埃勒斯-当洛斯综合征患者心血管事件发生率增加相关

Stephens, Sara B; Shalhub, Sherene; Dodd, Nicholas; Li, Jesse; Huang, Michael; Oda, Seitaro; Kancherla, Kalyan; Doan, Tam T; Prakash, Siddharth K; Weigand, Justin D; Asch, Federico M; Beecroft, Taylor; Cecchi, Alana; Shittu, Teniola; Preiss, Liliana; LeMaire, Scott A; Devereux, Richard B; Pyeritz, Reed E; Holmes, Kathryn W; Roman, Mary J; Lacro, Ronald V; Shohet, Ralph V; Krishnamurthy, Rajesh; Eagle, Kim; Byers, Peter; Milewicz, Dianna M; Morris, Shaine A

Cardiovascular Outcomes in Aortopathy: GenTAC Registry of Genetically Triggered Aortic Aneurysms and Related Conditions

主动脉病变的心血管结局:GenTAC 基因触发性主动脉瘤及相关疾病注册研究

Holmes, Kathryn W; Markwardt, Sheila; Eagle, Kim A; Devereux, Richard B; Weinsaft, Jonathan W; Asch, Federico M; LeMaire, Scott A; Maslen, Cheryl L; Song, Howard K; Milewicz, Dianna M; Prakash, Siddharth K; Guo, Dongchuan; Morris, Shaine A; Pyeritz, Reed E; Milewski, Rita C; Ravekes, William J; Dietz, H C; Shohet, Ralph V; Silberbach, Michael; Roman, Mary J

Early Mortality in Type A Acute Aortic Dissection: Insights From the International Registry of Acute Aortic Dissection

A型急性主动脉夹层早期死亡率:来自国际急性主动脉夹层注册研究的启示

Harris, Kevin M; Nienaber, Christoph A; Peterson, Mark D; Woznicki, Elise M; Braverman, Alan C; Trimarchi, Santi; Myrmel, Truls; Pyeritz, Reed; Hutchison, Stuart; Strauss, Craig; Ehrlich, Marek P; Gleason, Thomas G; Korach, Amit; Montgomery, Daniel G; Isselbacher, Eric M; Eagle, Kim A

Clinical Features and Outcomes of Pregnancy-Related Acute Aortic Dissection

妊娠相关急性主动脉夹层的临床特征和预后

Braverman, Alan C; Mittauer, Eric; Harris, Kevin M; Evangelista, Arturo; Pyeritz, Reed E; Brinster, Derek; Conklin, Lori; Suzuki, Toru; Fanola, Christina; Ouzounian, Maral; Chen, Edward; Myrmel, Truls; Bekeredjian, Raffi; Hutchison, Stuart; Coselli, Joseph; Gilon, Dan; O'Gara, Patrick; Davis, Melinda; Isselbacher, Eric; Eagle, Kim

Expanding the phenotypic spectrum of Mendelian connective tissue disorders to include prominent kidney phenotypes

将孟德尔结缔组织疾病的表型谱扩展到包括显著的肾脏表型

Strong, Alanna; Skraban, Cara; Meyers, Kevin; Amaral, Sandra; Furth, Susan; Drant, Stacey; Hsiao, Wendy; Galea, Lauren; Gold, Jessica; Gold, Nina B; Leonard, Jacqueline; Lopez, Sonya; Zackai, Elaine H; Pyeritz, Reed E

Health-Related Quality of Life in Children and Young Adults with Marfan Syndrome

马凡氏综合征儿童和青少年的健康相关生活质量

Handisides, Jill C; Hollenbeck-Pringle, Danielle; Uzark, Karen; Trachtenberg, Felicia L; Pemberton, Victoria L; Atz, Teresa W; Bradley, Timothy J; Cappella, Elizabeth; De Nobele, Sylvia; Groh, Georgeann Keh-Teng; Hamstra, Michelle S; Korsin, Rosalind; Levine, Jami C; Lindauer, Bergen; Liou, Aimee; Neal, Meghan K Mac; Markham, Larry W; Morrison, Tonia; Mussatto, Kathleen A; Olson, Aaron K; Pierpont, Mary Ella M; Pyeritz, Reed E; Radojewski, Elizabeth A; Roman, Mary J; Xu, Mingfen; Lacro, Ronald V

Clinical history and management recommendations of the smooth muscle dysfunction syndrome due to ACTA2 arginine 179 alterations

ACTA2 精氨酸 179 改变引起的平滑肌功能障碍综合征的临床病史和治疗建议

Regalado, Ellen S; Mellor-Crummey, Lauren; De Backer, Julie; Braverman, Alan C; Ades, Lesley; Benedict, Susan; Bradley, Timothy J; Brickner, M Elizabeth; Chatfield, Kathryn C; Child, Anne; Feist, Cori; Holmes, Kathryn W; Iannucci, Glen; Lorenz, Birgit; Mark, Paul; Morisaki, Takayuki; Morisaki, Hiroko; Morris, Shaine A; Mitchell, Anna L; Ostergaard, John R; Richer, Julie; Sallee, Denver; Shalhub, Sherene; Tekin, Mustafa; Estrera, Anthony; Musolino, Patricia; Yetman, Anji; Pyeritz, Reed; Milewicz, Dianna M