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

Multigene Panel Testing in a Large Cohort of Adults With Epilepsy: Diagnostic Yield and Clinically Actionable Genetic Findings

在大样本成人癫痫患者队列中进行多基因检测：诊断率和临床可操作的遗传学发现

期刊:Neurology-Genetics
影响因子:3.7
doi:10.1212/NXG.0000000000000650
McKnight, Dianalee; Bristow, Sara L; Truty, Rebecca M; Morales, Ana; Stetler, Molly; Westbrook, M Jody; Robinson, Kristina; Riethmaier, Darlene; Borlot, Felippe; Kellogg, Marissa; Hwang, Sean T; Berg, Anne; Aradhya, Swaroop
癫痫
神经科学
发表日期：2022
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Elucidating clinical phenotypic variability associated with the polyT tract and TG repeats in CFTR

阐明CFTR基因中polyT序列和TG重复序列相关的临床表型变异性

期刊:Human Mutation
影响因子:3.7
doi:10.1002/humu.24250
Nykamp, Keith; Truty, Rebecca; Riethmaier, Darlene; Wilkinson, Julia; Bristow, Sara L; Aguilar, Sienna; Neitzel, Dana; Faulkner, Nicole; Aradhya, Swaroop
CFTR
发表日期：2021
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Possible precision medicine implications from genetic testing using combined detection of sequence and intragenic copy number variants in a large cohort with childhood epilepsy

在一项针对大量儿童癫痫患者的研究中，结合序列变异和基因内拷贝数变异检测的基因检测方法，可能对精准医疗产生影响。

期刊:Epilepsia Open
影响因子:2.9
doi:10.1002/epi4.12348
Truty, Rebecca; Patil, Nila; Sankar, Raman; Sullivan, Joseph; Millichap, John; Carvill, Gemma; Entezam, Ali; Esplin, Edward D; Fuller, Amy; Hogue, Michelle; Johnson, Britt; Khouzam, Amirah; Kobayashi, Yuya; Lewis, Rachel; Nykamp, Keith; Riethmaier, Darlene; Westbrook, Jody; Zeman, Michelle; Nussbaum, Robert L; Aradhya, Swaroop
癫痫
神经科学
发表日期：2019
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Towards a Universal Clinical Genomics Database: the 2012 International Standards for Cytogenomic Arrays Consortium Meeting

迈向通用临床基因组学数据库：2012年细胞基因组芯片国际标准联盟会议

期刊:Human Mutation
影响因子:3.7
doi:10.1002/humu.22306
Riggs, Erin Rooney; Wain, Karen E; Riethmaier, Darlene; Savage, Melissa; Smith-Packard, Bethanny; Kaminsky, Erin B; Rehm, Heidi L; Martin, Christa Lese; Ledbetter, David H; Faucett, W Andrew
细胞生物学
发表日期：2013
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The laboratory-clinician team: a professional call to action to improve communication and collaboration for optimal patient care in chromosomal microarray testing

实验室-临床团队：一项旨在改善沟通与协作，从而在染色体微阵列检测中实现最佳患者护理的专业行动呼吁

期刊:Journal of Genetic Counseling
影响因子:1.9
doi:10.1007/s10897-012-9507-9
Wain, Karen E; Riggs, Erin; Hanson, Karen; Savage, Melissa; Riethmaier, Darlene; Muirhead, Andrea; Mitchell, Elyse; Packard, Bethanny Smith; Faucett, W Andrew
发表日期：2012
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