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

Chemical and genetic knockout identifies KCNQ2 as the principal background voltage-gated potassium current in human embryonic kidney 293 cells

化学和基因敲除实验表明,KCNQ2是人胚肾293细胞中主要的背景电压门控钾电流。

O'Neill, Matthew J; Yang, Tao; Wada, Yuko; Blair, Marcia A; Glazer, Andrew M

High-Throughput Methods for Variant Functional Assessment in Cardiac Disease

用于心脏疾病变异功能评估的高通量方法

Dolder, Richard E 3rd; Friedman, Clayton E; Loiben, Alexander M; Yang, Kai-Chun; Glazer, Andrew M

Automated patch clamp data improve variant classification and penetrance stratification for SCN5A-Brugada syndrome

自动化膜片钳数据可提高SCN5A-布鲁加达综合征的变异分类和外显率分层。

O'Neill, Matthew J; Ma, Joanne G; Aldridge, Jessa L; Solus, Joseph F; Harvey, Genevieve R; Roberson, Paige H; Barc, Julien; Bezzina, Connie R; Roden, Dan M; Walsh, Roddy; Vandenberg, Jamie I; Glazer, Andrew M; Ng, Chai-Ann

Guidelines for releasing a variant effect predictor

发布变异效应预测器的指南

Livesey, Benjamin J; Badonyi, Mihaly; Dias, Mafalda; Frazer, Jonathan; Kumar, Sushant; Lindorff-Larsen, Kresten; McCandlish, David M; Orenbuch, Rose; Shearer, Courtney A; Muffley, Lara; Foreman, Julia; Glazer, Andrew M; Lehner, Ben; Marks, Debora S; Roth, Frederick P; Rubin, Alan F; Starita, Lea M; Marsh, Joseph A

A high-performance extracellular field potential analyzer for iPSC-derived cardiomyocytes.

用于 iPSC 衍生心肌细胞的高性能细胞外场电位分析仪

Patel Nidhi, Shen Alex, Wada Yuko, Blair Marcia, Mitchell Devyn, Vanags Loren, Woo Suah, Ku Matthew, Dauda Kundivy, Morris William, Yang Minjoo, Knollmann Björn C, Salem Joe-Elie, Glazer Andrew M, Kroncke Brett M

Scaled multidimensional assays of variant effect identify sequence-function relationships in hypertrophic cardiomyopathy

通过对变异效应进行多维分析,可以识别肥厚型心肌病中的序列-功能关系。

Yamamoto, Yuta; Chua, Kaiser; Ferrasse, Alexis; Kirilova, Anna; De Jong, Hannah N; Floyd, Brendan J; Cadisch, Christian; Wiel, Laurens; Wang, Qianru; O'Neill, Matthew J; Tabet, Daniel; Staudt, David; Goryznski, John E; Huang, Yong; Wilson, Rachel H; Sharma, Arman; Tapales, Althea; Agrawal, Rani; Wheeler, Matthew T; MacRae, Calum; Roden, Dan M; Roth, Frederick P; Glazer, Andrew M; Ashley, Euan A; Parikh, Victoria N

Mapping the Functional Landscape of KCNQ1 to Define Ion Channel Mechanisms and Arrhythmia Risk

绘制KCNQ1功能图谱以明确离子通道机制和心律失常风险

Harvey, M Lorena; Osborn, Ellen; Lancaster, Megan C; Smith, Jeremy E; Shen, Qianyi; Abe, Temidayo; Cai, Ruoyi; Muhammad, Ayesha; Kannankeril, Rose; Yang, Tao; Calandranis, Maria E; Blackwell, Daniel J; Dolder, Richard E 3rd; Aldridge, Jessa L; Fleming, Matthew R; Blair, Marcia A; Soria, Eduardo; O'Sullivan, Jack W; Davogustto, Giovanni; Kroncke, Brett M; MacRae, Calum A; Knollmann, Bjorn C; Roth, Frederick P; Parikh, Victoria N; Ashley, Euan A; Vandenberg, Jamie I; Ng, Chai-Ann; Roden, Dan M; Glazer, Andrew M

Multiplexed Assays of Variant Effect and Automated Patch Clamping Improve KCNH2-LQTS Variant Classification and Cardiac Event Risk Stratification

多重变异效应检测和自动化膜片钳技术可提高KCNH2-LQTS变异分类和心脏事件风险分层能力

O'Neill, Matthew J; Ng, Chai-Ann; Aizawa, Takanori; Sala, Luca; Bains, Sahej; Winbo, Annika; Ullah, Rizwan; Shen, Qianyi; Tan, Chek-Ying; Kozek, Krystian; Vanags, Loren R; Mitchell, Devyn W; Shen, Alex; Wada, Yuko; Kashiwa, Asami; Crotti, Lia; Dagradi, Federica; Musu, Giulia; Spazzolini, Carla; Neves, Raquel; Bos, J Martijn; Giudicessi, John R; Bledsoe, Xavier; Gamazon, Eric R; Lancaster, Megan C; Glazer, Andrew M; Knollmann, Bjorn C; Roden, Dan M; Weile, Jochen; Roth, Frederick; Salem, Joe-Elie; Earle, Nikki; Stiles, Rachael; Agee, Taylor; Johnson, Christopher N; Horie, Minoru; Skinner, Jonathan R; Ackerman, Michael J; Schwartz, Peter J; Ohno, Seiko; Vandenberg, Jamie I; Kroncke, Brett M