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

The functional landscape of coding variation in the familial hypercholesterolemia gene LDLR.

家族性高胆固醇血症基因 LDLR 编码变异的功能图谱。

Tabet Daniel R, Coté Atina G, Lancaster Megan C, Weile Jochen, Rayhan Ashyad, Fotiadou Iosifina, Kishore Nishka, Li Roujia, Kuang Da, Knapp Jennifer J, Carrero Carmela S, Taverniti Olivia, Axakova Anna, Castelli Jack M P, Islam Mohammad M, Sowlati-Hashjin Shahin, Gandhi Aanshi, Maaieh Ranim, Garton Michael, Matreyek Kenneth, Fowler Douglas M, Bourbon Mafalda, Pfisterer Simon G, Glazer Andrew M, Kroncke Brett M, Parikh Victoria N, Ashley Euan A, Knowles Joshua W, Claussnitzer Melina, Cirulli Elizabeth T, Hegele Robert A, Roden Dan M, MacRae Calum A, Roth Frederick P

Creating an atlas of variant effects to resolve variants of uncertain significance and guide cardiovascular medicine

建立变异效应图谱,以解决意义未明的变异,并指导心血管医学研究。

Glazer, Andrew M; Tabet, Daniel R; Parikh, Victoria N; Kroncke, Brett M; Cote, Atina G; Yamamoto, Yuta; Wang, Qianru; Muhammad, Ayesha; Lancaster, Megan C; O'Neill, Matthew J; Weile, Jochen; Yang, Tao; Macrae, Calum A; Ashley, Euan A; Roth, Frederick P; Roden, Dan M

Genetic evaluation of early-onset atrial fibrillation: impact on patient management

早期发作性房颤的基因评估:对患者管理的影响

Laws, J Lukas; Shabani, Mahsima; Williams, Hollie L; Grauherr, Dakota D; Kilbourne, Wendy M; Crawford, Diane M; Ogunmola, Isaac; Sun, Lili; Virk, Zain; Cathey, Brianna; El-Harasis, Majd A; Pelphrey, Cassady J; Quintana, Joseph A; Murphy, Brittany S; Davogustto, Giovanni E; Ponder, M Edward; Irani, Omeed M; Daw, J Michael; Varghese, Bibin T; Saavedra, Pablo; Abraham, Robert L; Estrada, Juan C; Murray, Katherine T; Clair, Walter K; Shen, Sharon T; Kanagasundram, Arvindh N; Montgomery, Jay A; Ellis, Christopher R; Fish, Frank; Richardson, Travis D; Crossley, George H; Hung, Rebecca R; Dendy, Jeffrey M; Wright, Adam; Wells, Quinn S; Ye, Fei; Tandri, Harikrishna; Stevenson, William G; Lancaster, Megan; Kannankeril, Prince J; Stevenson, Lynne W; Roden, Dan M; Yoneda, Zachary T; Shoemaker, M Benjamin

Return of genome-informed risk-assessment results for common conditions to 23,840 adults and children: An eMERGE network study

向 23,840 名成人和儿童反馈常见疾病的基因组信息风险评估结果:一项 eMERGE 网络研究

Lawson, Lucinda P; Prows, Cynthia A; Cortopassi, Josh; Davis, Kyle W; Head, Madilyn; Martin, Lisa J; Perez, Emma F; Sobowale, Agboade; Abul-Husn, Noura S; Bangash, Hana; Bland, Harris T; Bonini, Katherine E; Chisholm, Rex L; Chung, Wendy K; Cimino, James J; Connolly, John J; Crosslin, David R; Freimuth, Robert R; Goff, Blake; Gordon, Adam S; Hakonarson, Hakon; Harr, Margaret H; Henricks, Emma; Hernandez, Valentina; Hoell, Christin; Holm, Ingrid A; Hripcsak, George; Karlson, Elizabeth W; Kenny, Eimear E; Khan, Atlas; Kiryluk, Krzysztof; Kottyan, Leah C; Lennon, Niall J; Limdi, Nita; Linder, Jodell E; Liu, Cong; Manolio, Teri A; Maradik, Mary A; Marathe, Priya N; Maripuri, Devi P; McNally, Elizabeth M; Murphy, Shawn N; Naderian, Mohammadreza; Namjou, Bahram; Odgis, Jacqueline A; Peterson, Josh F; Pineda-Alvarez, Daniel E; Puckelwartz, Megan; Purcell, Jasmine; Rasmussen-Torvik, Laura J; Roden, Dan M; Rosenthal, Elisabeth A; Rowley, Robb; Sabatello, Maya; Scherr, Courtney L; Shaibi, Gabriel Q; Sharp, Richard R; Smoller, Jordan W; Sterling, Rene; Suckiel, Sabrina A; Terek, Shannon; Ting, Yi-Lee; Velez Edwards, Digna R; Walunas, Theresa L; Wei, Wei-Qi; Weng, Chunhua; Wiesner, Georgia L; Xian, Su; Jarvik, Gail P; Kullo, Iftikhar

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

Unbiased Characterization of Atrial Fibrillation Phenotypic Architecture Provides Insight Into Genetic Liability and Clinically Relevant Outcomes

对心房颤动表型结构的无偏倚表征有助于深入了解遗传易感性和临床相关结果

Davogustto, Giovanni; Zhao, Shilin; Li, Yajing; Farber-Eger, Eric; Lowery, Brandon D; Shaffer, Lauren Lee; Mosley, Jonathan D; Shoemaker, M Benjamin; Xu, Yaomin; Roden, Dan M; Wells, Quinn S

Entrectinib results in ventricular tachycardia and Brugada phenocopy through inhibition of sodium current

恩曲替尼通过抑制钠电流导致室性心动过速和布鲁加达综合征表型。

Fleming, Matthew R; Yang, Tao; Wells, John A; Sunthankar, Kathryn I; Strickland, Teresa L; Blair, Marcia A; Richardson, Travis D; Jahangir, Eiman; Knollmann, Bjorn C; Roden, Dan M

Entrectinib results in ventricular tachycardia and Brugada phenocopy through inhibition of sodium current

恩曲替尼通过抑制钠电流导致室性心动过速和布鲁加达综合征表型。

Herman, Eugene; Eldridge, Sandy; Fleming, Matthew R; Yang, Tao; Wells, John A; Sunthankar, Kathryn I; Strickland, Teresa L; Blair, Marcia A; Richardson, Travis D; Jahangir, Eiman; Knollmann, Bjorn C; Roden, Dan M

Effectiveness of shared decision making strategies for stroke prevention among patients with atrial fibrillation: cluster randomized controlled trial

共同决策策略在预防房颤患者卒中方面的有效性:整群随机对照试验

Ozanne, Elissa M; Barnes, Geoffrey D; Brito, Juan P; Cameron, Kenzie A; Cavanaugh, Kerri L; Greene, Tom; Jackson, Elizabeth A; Montori, Victor M; Steinberg, Benjamin A; Witt, Daniel M; Noseworthy, Peter; Passman, Rod S; Kansal, Preeti; Crossley, George; Roden, Dan M; Christensen, Joshua T; Ariotti, Anthony; Jones, Aubrey E; Bardsley, Tyler; Wu, Chaorong; Fagerlin, Angela

A Common Ancestry-Specific Sodium Channel Variant Increases Susceptibility to Drug-Induced QTc Prolongation: Evidence From a Large Biobank

一种常见的祖先特异性钠通道变异体增加了药物诱导QTc间期延长的易感性:来自大型生物样本库的证据

Stewart, Russell; Lowery, Brandon D; Farber-Eger, Eric; Wada, Yuko; Roden, Dan M; Wells, Quinn S; Davogustto, Giovanni