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

Author Correction: Global loss of promoter-enhancer connectivity and rebalancing of gene expression during early colorectal cancer carcinogenesis

作者更正:早期结直肠癌发生过程中启动子-增强子连接的整体丧失和基因表达的重新平衡

Zhu, Yizhou; Lee, Hayan; White, Shannon; Weimer, Annika K; Monte, Emma; Horning, Aaron; Nevins, Stephanie A; Esplin, Edward D; Paul, Kristina; Krieger, Gat; Shipony, Zohar; Chiu, Roxanne; Laquindanum, Rozelle; Karathanos, Thomas V; Chua, Melissa W Y; Mills, Meredith; Ladabaum, Uri; Longacre, Teri; Shen, Jeanne; Jaimovich, Ariel; Lipson, Doron; Kundaje, Anshul; Greenleaf, William J; Curtis, Christina; Ford, James M; Snyder, Michael P

Experience using conventional compared to ancestry-based population descriptors in clinical genomics laboratories

在临床基因组学实验室中使用传统人群描述符与基于祖源的人群描述符的经验

Hatchell, Kathryn E; Poll, Sarah R; Russell, Emily M; Williams, Trevor J; Ellsworth, Rachel E; Facio, Flavia M; Aguilar, Sienna; Esplin, Edward D; Popejoy, Alice B; Nussbaum, Robert L; Aradhya, Swaroop

Germline Genetic Testing in Patients with Bone and Soft Tissue Sarcoma: A Prospective Multicenter Study to Evaluate Cancer Susceptibility

骨和软组织肉瘤患者的种系基因检测:一项评估癌症易感性的前瞻性多中心研究

Ailts, Isaak; Golafshar, Michael A; Kunze, Katie L; Klint, Margaret; Barrus, Kathleen; Nussbaum, Robert L; Esplin, Edward D; Leach, Brandie; Young, Sarah; Samadder, N Jewel; Seetharam, Mahesh

Implementation of Universal Germline Genetic Testing Into Standard of Care for Patients With Prostate Cancer: The Time Is Now

将普遍的生殖系基因检测纳入前列腺癌患者的标准治疗方案:时不我待

Shore, Neal; Nielsen, Sarah M; Esplin, Edward D; Antonarakis, Emmanuel S; Barata, Pedro C; Beer, Tomasz M; Beltran, Himisha; Bryce, Alan; Cookson, Michael S; Crawford, E David; Dorff, Tanya B; George, Daniel J; Heath, Elisabeth I; Helfand, Brian T; Hussain, Maha; Mckay, Rana R; Morgans, Alicia K; Morris, Michael J; Paller, Channing J; Ross, Ashley E; Sartor, Oliver; Shen, John; Sieber, Paul; Smith, Matthew R; Wise, David R; Armstrong, Andrew J

Phenome-wide association study identifies multiple traits associated with a polygenic risk score for colorectal cancer

全表型组关联研究鉴定出与结直肠癌多基因风险评分相关的多个性状

Rosenthal, Elisabeth A; Wei, Wei-Qi; Luo, Yuan; Namjou-Khales, Bahram; Schaid, Daniel J; Esplin, Edward D; Lape, Michael; Kottyan, Leah; Pacheco, Jennifer Allen; Weng, Chunhua; Gordon, Adam Samuel; Kullo, Iftikhar J; Crosslin, David R; Grady, William M; Hsu, Li; Peters, Ulrike; Jarvik, Gail P

Pathogenic germ line variants in a prospective multicenter cohort of patients with multiple myeloma

前瞻性多中心队列研究中多发性骨髓瘤患者的致病性种系变异

Wiedmeier-Nutor, Julia Erin; Golafshar, Michael A; Kunze, Katie L; Esplin, Edward D; Nussbaum, Robert L; Jessen, Erik; Heald, Brandie; Stewart, A Keith; Samadder, N Jewel; Bergsagel, P Leif; Fonseca, Rafael

Polyclonal origins of human premalignant colorectal lesions

人类结直肠癌前病变的多克隆起源

Van Egeren, Debra; Schenck, Ryan O; Khan, Aziz; Horning, Aaron M; Mo, Shanlan; Weiß, Clemens L; Esplin, Edward D; Becker, Winston R; Wu, Si; Hanson, Casey; Barapour, Nasim; Jiang, Lihua; Contrepois, Kévin; Lee, Hayan; Nevins, Stephanie A; Guha, Tuhin K; Zhang, Hao; He, Zhen; Ma, Zhicheng; Monte, Emma; Karathanos, Thomas V; Laquindanum, Rozelle; Mills, Meredith A; Chaib, Hassan; Chiu, Roxanne; Jian, Ruiqi; Chan, Joanne; Ellenberger, Mathew; Bahmani, Bahareh; Michael, Basil; Weimer, Annika K; Esplin, D Glen; Lancaster, Samuel; Shen, Jeanne; Ladabaum, Uri; Longacre, Teri A; Kundaje, Anshul; Greenleaf, William J; Hu, Zheng; Ford, James M; Snyder, Michael P; Curtis, Christina

Single-cell spatial mapping reveals alteration of tissue microenvironment during early colorectal cancer

单细胞空间映射揭示早期结直肠癌组织微环境的改变

Guha, Tuhin K; Esplin, Edward D; Horning, Aaron M; Chiu, Roxanne; Paul, Kristina; Weimer, Annika K; Becker, Winston R; Laquindanum, Rozelle; Mills, Meredith A; Esplin, D Glen; Shen, Jeanne; Monte, Emma; White, Shannon; Karathanos, Thomas V; Cotter, Daniel; Bi, Joanna; Ladabaum, Uri; Longacre, Teri A; Curtis, Christina; Ford, James M; Greenleaf, William J; Snyder, Michael P

Mixed-effects polygenic risk score Phenome-wide association study detects genetic correlation between colorectal cancer risk and phenotype data extracted from the electronic health record

混合效应多基因风险评分全表型关联研究检测结直肠癌风险与从电子健康记录中提取的表型数据之间的遗传相关性

Rosenthal, Elisabeth A; Wei, Wei-Qi; Luo, Yuan; Namjou-Khales, Bahram; Schaid, Daniel J; Esplin, Edward D; Lape, Michael; Kottyan, Leah; Pacheco, Jennifer Allen Pacheco Allen; Weng, Chunhua; Gordon, Adam Samuel; Kullo, Iftikhar J; Crosslin, David R; Grady, William M; Hsu, Li; Peters, Ulrike; Jarvik, Gail P