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

Plasma GFAP and p‐tau 181 were closely linked with longitudinal synaptic loss and cognition decline

血浆GFAP和p-tau 181与纵向突触丢失和认知能力下降密切相关

Schrijver, Iris; Aziz, Nazneen; Farkas, Daniel H; Furtado, Manohar; Gonzalez, Andrea Ferreira; Greiner, Timothy C; Grody, Wayne W; Hambuch, Tina; Kalman, Lisa; Kant, Jeffrey A; Klein, Roger D; Leonard, Debra G B; Lubin, Ira M; Mao, Rong; Nagan, Narasimhan; Pratt, Victoria M; Sobel, Mark E; Voelkerding, Karl V; Gibson, Jane S; Cui, Mei; Jin, Zishuo; Wang, Yingzhe; Dong, Qiang; Wang, Jie

Diverse Integration of Simulated Patients in Medical Education for Communication, Language, and Clinical Skills in Hungary

匈牙利医学教育中模拟病人多元化整合在沟通、语言和临床技能培养中的应用

Eklics, Kata; Csongor, Alexandra; Hambuch, Anikó; Fekete, Judit Diana

One in seven pathogenic variants can be challenging to detect by NGS: an analysis of 450,000 patients with implications for clinical sensitivity and genetic test implementation

七分之一的致病变异难以通过二代测序(NGS)检测:一项对45万患者的分析揭示了其对临床敏感性和基因检测实施的影响。

Lincoln, Stephen E; Hambuch, Tina; Zook, Justin M; Bristow, Sara L; Hatchell, Kathryn; Truty, Rebecca; Kennemer, Michael; Shirts, Brian H; Fellowes, Andrew; Chowdhury, Shimul; Klee, Eric W; Mahamdallie, Shazia; Cleveland, Megan H; Vallone, Peter M; Ding, Yan; Seal, Sheila; DeSilva, Wasanthi; Tomson, Farol L; Huang, Catherine; Garlick, Russell K; Rahman, Nazneen; Salit, Marc; Kingsmore, Stephen F; Ferber, Matthew J; Aradhya, Swaroop; Nussbaum, Robert L

Copy-number variants in clinical genome sequencing: deployment and interpretation for rare and undiagnosed disease

临床基因组测序中的拷贝数变异:罕见病和未确诊疾病的应用与解读

Gross, Andrew M; Ajay, Subramanian S; Rajan, Vani; Brown, Carolyn; Bluske, Krista; Burns, Nicole J; Chawla, Aditi; Coffey, Alison J; Malhotra, Alka; Scocchia, Alicia; Thorpe, Erin; Dzidic, Natasa; Hovanes, Karine; Sahoo, Trilochan; Dolzhenko, Egor; Lajoie, Bryan; Khouzam, Amirah; Chowdhury, Shimul; Belmont, John; Roller, Eric; Ivakhno, Sergii; Tanner, Stephen; McEachern, Julia; Hambuch, Tina; Eberle, Michael; Hagelstrom, R Tanner; Bentley, David R; Perry, Denise L; Taft, Ryan J

A survey of current practices for genomic sequencing test interpretation and reporting processes in US laboratories

美国实验室基因组测序检测结果解读和报告流程现状调查

O'Daniel, Julianne M; McLaughlin, Heather M; Amendola, Laura M; Bale, Sherri J; Berg, Jonathan S; Bick, David; Bowling, Kevin M; Chao, Elizabeth C; Chung, Wendy K; Conlin, Laura K; Cooper, Gregory M; Das, Soma; Deignan, Joshua L; Dorschner, Michael O; Evans, James P; Ghazani, Arezou A; Goddard, Katrina A; Gornick, Michele; Farwell Hagman, Kelly D; Hambuch, Tina; Hegde, Madhuri; Hindorff, Lucia A; Holm, Ingrid A; Jarvik, Gail P; Knight Johnson, Amy; Mighion, Lindsey; Morra, Massimo; Plon, Sharon E; Punj, Sumit; Richards, C Sue; Santani, Avni; Shirts, Brian H; Spinner, Nancy B; Tang, Sha; Weck, Karen E; Wolf, Susan M; Yang, Yaping; Rehm, Heidi L

Successful Application of Whole Genome Sequencing in a Medical Genetics Clinic

全基因组测序在医学遗传诊所的成功应用

Bick, David; Fraser, Pamela C; Gutzeit, Michael F; Harris, Jeremy M; Hambuch, Tina M; Helbling, Daniel C; Jacob, Howard J; Kersten, Juliet N; Leuthner, Steven R; May, Thomas; North, Paula E; Prisco, Sasha Z; Schuler, Bryce A; Shimoyama, Mary; Strong, Kimberly A; Van Why, Scott K; Veith, Regan; Verbsky, James; Weborg, Arthur M Jr; Wilk, Brandon M; Willoughby, Rodney E Jr; Worthey, Elizabeth A; Dimmock, David P

Whole exome sequencing in patients with white matter abnormalities

白质异常患者的全外显子组测序

Vanderver, Adeline; Simons, Cas; Helman, Guy; Crawford, Joanna; Wolf, Nicole I; Bernard, Geneviève; Pizzino, Amy; Schmidt, Johanna L; Takanohashi, Asako; Miller, David; Khouzam, Amirah; Rajan, Vani; Ramos, Erica; Chowdhury, Shimul; Hambuch, Tina; Ru, Kelin; Baillie, Gregory J; Grimmond, Sean M; Caldovic, Ljubica; Devaney, Joseph; Bloom, Miriam; Evans, Sarah H; Murphy, Jennifer L P; McNeill, Nathan; Fogel, Brent L; Schiffmann, Raphael; van der Knaap, Marjo S; Taft, Ryan J

Good laboratory practice for clinical next-generation sequencing informatics pipelines

临床二代测序信息学流程的良好实验室规范

Gargis, Amy S; Kalman, Lisa; Bick, David P; da Silva, Cristina; Dimmock, David P; Funke, Birgit H; Gowrisankar, Sivakumar; Hegde, Madhuri R; Kulkarni, Shashikant; Mason, Christopher E; Nagarajan, Rakesh; Voelkerding, Karl V; Worthey, Elizabeth A; Aziz, Nazneen; Barnes, John; Bennett, Sarah F; Bisht, Himani; Church, Deanna M; Dimitrova, Zoya; Gargis, Shaw R; Hafez, Nabil; Hambuch, Tina; Hyland, Fiona C L; Luna, Ruth Ann; MacCannell, Duncan; Mann, Tobias; McCluskey, Megan R; McDaniel, Timothy K; Ganova-Raeva, Lilia M; Rehm, Heidi L; Reid, Jeffrey; Campo, David S; Resnick, Richard B; Ridge, Perry G; Salit, Marc L; Skums, Pavel; Wong, Lee-Jun C; Zehnbauer, Barbara A; Zook, Justin M; Lubin, Ira M

Reducing false-positive incidental findings with ensemble genotyping and logistic regression based variant filtering methods

利用集成基因分型和基于逻辑回归的变异过滤方法减少假阳性意外发现

Hwang, Kyu-Baek; Lee, In-Hee; Park, Jin-Ho; Hambuch, Tina; Choe, Yongjoon; Kim, MinHyeok; Lee, Kyungjoon; Song, Taemin; Neu, Matthew B; Gupta, Neha; Kohane, Isaac S; Green, Robert C; Kong, Sek Won

Assuring the quality of next-generation sequencing in clinical laboratory practice

确保临床实验室实践中下一代测序的质量

Gargis, Amy S; Kalman, Lisa; Berry, Meredith W; Bick, David P; Dimmock, David P; Hambuch, Tina; Lu, Fei; Lyon, Elaine; Voelkerding, Karl V; Zehnbauer, Barbara A; Agarwala, Richa; Bennett, Sarah F; Chen, Bin; Chin, Ephrem L H; Compton, John G; Das, Soma; Farkas, Daniel H; Ferber, Matthew J; Funke, Birgit H; Furtado, Manohar R; Ganova-Raeva, Lilia M; Geigenmüller, Ute; Gunselman, Sandra J; Hegde, Madhuri R; Johnson, Philip L F; Kasarskis, Andrew; Kulkarni, Shashikant; Lenk, Thomas; Liu, C S Jonathan; Manion, Megan; Manolio, Teri A; Mardis, Elaine R; Merker, Jason D; Rajeevan, Mangalathu S; Reese, Martin G; Rehm, Heidi L; Simen, Birgitte B; Yeakley, Joanne M; Zook, Justin M; Lubin, Ira M