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

Structural Evaluation of RYR2-CPVT Missense Variants and Continuous Bayesian Estimates of Their Penetrance

RYR2-CPVT错义变异的结构评估及其外显率的连续贝叶斯估计

Dauda, Kundivy; Yamauchi, Kohei; Ku, Matthew; Mitchell, Devyn W; Shen, Alex; Vanags, Loren; Schmeckpeper, Jeffrey; Kannankeril, Prince J; Knollmann, Bjorn C; O'Neill, Matthew J; Kroncke, Brett M

High-throughput screens identify genotype-specific therapeutics for channelopathies

高通量筛选鉴定出针对离子通道病的基因型特异性疗法

Egly, Christian L; Shen, Alex; Do, Tri Q; Tellet Cabiya, Carlos; Ritschel, Paxton A; Woo, Suah; Ku, Matthew; Delisle, Brian P; Kroncke, Brett M; Knollmann, Björn C

Calibrated Functional Data Decrease Clinical Uncertainty for KCNH2-Related Long-QT Syndrome

校准后的功能数据可降低KCNH2相关长QT间期综合征的临床诊断不确定性

Ng, Chai-Ann; O'Neill, Matthew J; Padigepati, Samskruthi R; Ting, Yi-Lee; Facio, Flavia M; Vatta, Matteo; Poll, Sarah R; Reuter, Jason A; Vandenberg, Jamie I; Kroncke, Brett M

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

Calibrated Functional Data Decreases Clinical Uncertainty for KCNH2-related Long QT Syndrome

校准后的功能数据降低了KCNH2相关长QT间期综合征的临床不确定性

Ng, Chai-Ann; O'Neill, Matthew J; Padigepati, Samskruthi R; Ting, Yi-Lee; Facio, Flavia M; Vatta, Matteo; Poll, Sarah R; Reuter, Jason; Vandenberg, Jamie I; Kroncke, Brett M

Structural Evaluation of RYR2-CPVT Missense Variants and Continuous Bayesian Estimates of their Penetrance

RYR2-CPVT错义变异的结构评估及其外显率的连续贝叶斯估计

Yamauchi, Kohei; Ku, Matthew; Mitchell, Devyn W; Shen, Alex; Dauda, Kundivy; Vanags, Loren; Schmeckpeper, Jeffrey; Knollmann, Bjorn C; O'Neill, Matthew J; Kroncke, Brett M

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