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Andrew M. Glazer

Vanderbilt University
H指数:28
被引数:2,758

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

家族性高胆固醇血症基因LDLR编码变异的功能景观

Science
IF45.8
2025-10-300
PRE
Creating an atlas of variant effects to resolve variants of uncertain significance and guide cardiovascular medicine

创建变异效应图谱以解决意义不明的变异并指导心血管医学

2025-09-010
PRE
Guidelines for releasing a variant effect predictor

变异效应预测器的发布指南

2025-04-151
OA
Multisite Validation of a Functional Assay to Adjudicate SCN5A Brugada Syndrome-Associated Variants

裁定SCN5A Brugada综合征相关变异的功能测定的多位点验证

2024-08-011
PRE
Multicenter clinical and functional evidence reclassifies a recurrent noncanonical filamin C splice-altering variant

多中心临床和功能证据重新分类了复发性非规范丝状蛋白C剪接改变变体

2023-08-013
OAAI
An Atlas of Variant Effects to understand the genome at nucleotide resolution

以核苷酸分辨率理解基因组的变异效应图集

2023-07-0329
OAAI
Transcriptional Dysregulation Underlies Both Monogenic Arrhythmia Syndrome and Common Modifiers of Cardiac Repolarization

转录失调是单基因心律失常综合征和心脏复极的常见修饰因子的基础

2023-03-0710
PRE
Mortality Among Patients With Early-Onset Atrial Fibrillation and Rare Variants in Cardiomyopathy and Arrhythmia Genes
2022-07-0128
OAAI