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

New Resources to Identify Characterized DNA Reference Materials for Pharmacogenetic (PGx) and Human Leukocyte Antigen (HLA) Testing: The Genetic Testing Reference Material (GeT-RM) Program PGx Search Tool and GeT-RM Consolidated PGx and HLA Table

用于药物遗传学 (PGx) 和人类白细胞抗原 (HLA) 检测的特征性 DNA 参考物质的新资源：基因检测参考物质 (GeT-RM) 项目 PGx 搜索工具和 GeT-RM PGx 和 HLA 综合表

期刊:Journal of Molecular Diagnostics
影响因子:3.4
doi:10.1016/j.jmoldx.2025.02.008
Scheinfeldt, Laura; Kusic, Dara; Gaedigk, Andrea; Turner, Amy J; Moyer, Ann M; Pratt, Victoria M; Kalman, Lisa V
细胞生物学
Human
发表日期：2025
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Characterization of Reference Materials for DPYD: A GeT-RM Collaborative Project.

DPYD参考物质的表征：GeT-RM合作项目

期刊:Journal of Molecular Diagnostics
影响因子:3.4
doi:10.1016/j.jmoldx.2024.06.004
Gaedigk Andrea, Turner Amy J, Moyer Ann M, Zubiaur Pablo, Boone Erin C, Wang Wendy Y, Broeckel Ulrich, Kalman Lisa V
其它
发表日期：2024
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Response to "DPYD genotyping panels: Impact of population diversity"

对“DPYD基因分型面板：人口多样性的影响”的回应

期刊:Cts-Clinical and Translational Science
影响因子:2.8
doi:10.1111/cts.13806
Gaedigk, Andrea; Turner, Amy J; Haidar, Cyrine E; Empey, Philip E; Offer, Steven M
DPYD
发表日期：2024
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DPYD Genotyping Recommendations: A Joint Consensus Recommendation of the Association for Molecular Pathology, American College of Medical Genetics and Genomics, Clinical Pharmacogenetics Implementation Consortium, College of American Pathologists, Dutch Pharmacogenetics Working Group of the Royal Dutch Pharmacists Association, European Society for Pharmacogenomics and Personalized Therapy, Pharmacogenomics Knowledgebase, and Pharmacogene Variation Consortium

DPYD基因分型建议：分子病理学协会、美国医学遗传学和基因组学学会、临床药物遗传学实施联盟、美国病理学家学会、荷兰皇家药剂师协会荷兰药物遗传学工作组、欧洲药物基因组学和个体化治疗学会、药物基因组学知识库以及药物基因变异联盟的联合共识建议

期刊:Journal of Molecular Diagnostics
影响因子:
doi:10.1016/j.jmoldx.2024.05.015
Pratt, Victoria M; Cavallari, Larisa H; Fulmer, Makenzie L; Gaedigk, Andrea; Hachad, Houda; Ji, Yuan; Kalman, Lisa V; Ly, Reynold C; Moyer, Ann M; Scott, Stuart A; Turner, Amy J; van Schaik, Ron H N; Whirl-Carrillo, Michelle; Weck, Karen E
DPYD
发表日期：2024
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PharmVar Tutorial on CYP2D6 Structural Variation Testing and Recommendations on Reporting.

药典关于CYP2D6结构变异检测和报告建议的教程

期刊:Clinical Pharmacology & Therapeutics
影响因子:5.5
doi:10.1002/cpt.3044
Turner Amy J, Nofziger Charity, Ramey Bronwyn E, Ly Reynold C, Bousman Chad A, Agúndez José A G, Sangkuhl Katrin, Whirl-Carrillo Michelle, Vanoni Simone, Dunnenberger Henry M, Ruaño Gualberto, Kennedy Martin A, Phillips Michael S, Hachad Houda, Klein Teri E, Moyer Ann M, Gaedigk Andrea
其它
发表日期：2023
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Characterization of complex structural variation in the CYP2D6-CYP2D7-CYP2D8 gene loci using single-molecule long-read sequencing

利用单分子长读长测序技术对CYP2D6-CYP2D7-CYP2D8基因位点的复杂结构变异进行表征

期刊:Frontiers in Pharmacology
影响因子:4.8
doi:10.3389/fphar.2023.1195778
Turner, Amy J; Derezinski, Ashley D; Gaedigk, Andrea; Berres, Mark E; Gregornik, David B; Brown, Keith; Broeckel, Ulrich; Scharer, Gunter
Sequencing
发表日期：2023
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Identification of CYP2D6 Haplotypes that Interfere with Commonly Used Assays for Copy Number Variation Characterization

鉴定干扰常用拷贝数变异表征检测的CYP2D6单倍型

期刊:Journal of Molecular Diagnostics
影响因子:3.4
doi:10.1016/j.jmoldx.2021.01.013
Turner, Amy J; Aggarwal, Praful; Boone, Erin C; Haidar, Cyrine-Eliana; Relling, Mary V; Derezinski, Ashley D; Broeckel, Ulrich; Gaedigk, Andrea
发表日期：2021
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Challenges in clinical implementation of CYP2D6 genotyping: choice of variants to test affects phenotype determination

CYP2D6基因分型临床应用面临的挑战：检测变异的选择会影响表型判定

期刊:Genetics in Medicine
影响因子:6.2
doi:10.1038/s41436-019-0614-y
Hoshitsuki, Keito; Crews, Kristine R; Yang, Wenjian; Smith, Colton A; Hankins, Jane S; Turner, Amy J; Broeckel, Ulrich; McMillin, Gwendolyn A; Relling, Mary V; Haidar, Cyrine E
发表日期：2020
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The introduction of RNA-DNA differences underlies interindividual variation in the human IL12RB1 mRNA repertoire

RNA-DNA差异的引入是人类IL12RB1 mRNA库个体间差异的根本原因。

期刊:Proceedings of the National Academy of Sciences of the United States of America
影响因子:9.1
doi:10.1073/pnas.1515978112
Turner, Amy J; Aggarwal, Praful; Miller, Halli E; Waukau, Jill; Routes, John M; Broeckel, Ulrich; Robinson, Richard T
IL12RB1
发表日期：2015
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