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

Characterization of Reference Materials for TPMT and NUDT15: A GeT-RM Collaborative Project

TPMT 和 NUDT15 参考材料表征:GeT-RM 合作项目

Victoria M Pratt, Wendy Y Wang, Erin C Boone, Ulrich Broeckel, Neal Cody, Lisa Edelmann, Andrea Gaedigk, Ty C Lynnes, Elizabeth B Medeiros, Ann M Moyer, Matthew W Mitchell, Stuart A Scott, Petr Starostik, Amy Turner, Lisa V Kalman0

Development and Analytical Validation of a 29 Gene Clinical Pharmacogenetic Genotyping Panel: Multi-Ethnic Allele and Copy Number Variant Detection

29基因临床药物遗传学基因分型检测板的开发与分析验证:多民族等位基因和拷贝数变异检测

Scott, Stuart A; Scott, Erick R; Seki, Yoshinori; Chen, Annette J; Wallsten, Richard; Owusu Obeng, Aniwaa; Botton, Mariana R; Cody, Neal; Shi, Huanzhi; Zhao, Geping; Brake, Paul; Nicoletti, Paola; Yang, Yao; Delio, Maria; Shi, Lisong; Kornreich, Ruth; Schadt, Eric E; Edelmann, Lisa

Recommendations for Clinical Warfarin Genotyping Allele Selection: A Report of the Association for Molecular Pathology and the College of American Pathologists

临床华法林基因分型等位基因选择建议:分子病理学协会和美国病理学家学会的报告

Victoria M Pratt, Larisa H Cavallari, Andria L Del Tredici, Houda Hachad, Yuan Ji, Lisa V Kalman, Reynold C Ly, Ann M Moyer, Stuart A Scott, Michelle Whirl-Carrillo, Karen E Weck1

Structural variation at the CYP2C locus: Characterization of deletion and duplication alleles

CYP2C 基因座的结构变异:缺失和重复等位基因的表征

Mariana R Botton, Xingwu Lu, Geping Zhao, Elena Repnikova, Yoshinori Seki, Andrea Gaedigk, Eric E Schadt, Lisa Edelmann, Stuart A Scott

Cytogenomic identification and long-read single molecule real-time (SMRT) sequencing of a Bardet-Biedl Syndrome 9 (BBS9) deletion

Bardet-Biedl 综合征 9 (BBS9) 缺失的细胞基因组学鉴定和长读单分子实时 (SMRT) 测序

Jennifer Reiner, Laura Pisani, Wanqiong Qiao, Ram Singh, Yao Yang, Lisong Shi, Wahab A Khan, Robert Sebra, Ninette Cohen, Arvind Babu, Lisa Edelmann, Ethylin Wang Jabs, Stuart A Scott

Multi-ethnic SULT1A1 copy number profiling with multiplex ligation-dependent probe amplification

利用多重连接依赖性探针扩增技术进行多民族 SULT1A1 拷贝数分析

Raymon Vijzelaar, Mariana R Botton, Lisette Stolk, Suparna Martis, Robert J Desnick, Stuart A Scott

Quantitative and multiplexed DNA methylation analysis using long-read single-molecule real-time bisulfite sequencing (SMRT-BS)

利用长读长单分子实时亚硫酸氢盐测序(SMRT-BS)进行定量和多重DNA甲基化分析

Yao Yang,Robert Sebra,Benjamin S Pullman,Wanqiong Qiao,Inga Peter,Robert J Desnick,C Ronald Geyer,John F DeCoteau,Stuart A Scott