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

Targeted deep sequencing identifies mosaicism in patients with immune dysregulation

靶向深度测序可识别免疫失调患者的嵌合现象

Schmitz, Elizabeth G; Paul, Alexander J; Ghosh, Rajarshi; Saucier, Nermina; Kolicheski, Ana; Risma, Samuel I; McDaniels, Kristen P; Liu, Michelle; Lewis, Katie L; de Jesus, Adriana A; Alehashemi, Sara; Fronick, Catrina C; Stein, David; Dominguez, Daniela; Hiraki, Linda T; Lee, Jessica H; Norman, Stephanie; Peng, Christine R; Ward, Brant R; Pettiford, Leah H; Platt, Anna; Lawrence, Monica G; Rocco, Joseph M; Al-Herz, Waleed; Zerbe, Christa S; Atkinson, T Prescott; Peng, Xiao P; Allenspach, Eric J; Hoytema van Konijnenburg, David P; Platt, Craig D; Elkins, Megan; Walter, Jolan E; Bleesing, Jack J; Klion, Amy; Ramaswami, Ramya; Uzel, Gulbu; Lionakis, Michail S; Dissanayake, Dilan; Su, Helen C; Cortese, Irene; Fuss, Ivan J; Bergerson, Jenna R E; Dropulic, Lesia; Sereti, Irini; Lisco, Andrea; Itan, Yuval; Milner, Joshua D; Bogunovic, Dusan; Goldbach-Mansky, Raphaela; Rao, V Koneti; Delmonte, Ottavia M; Notarangelo, Luigi D; Keller, Michael D; Durkee-Shock, Jessica; Cohen, Jeffrey I; Similuk, Morgan N; Holland, Steven M; Griffith, Malachi; Griffith, Obi L; Vogel, Tiphanie P; Canna, Scott; Freeman, Alexandra F; Walkiewicz, Magdalena A; Cooper, Megan A

ClinGen API platform for classification of human genetic variants

ClinGen API平台用于人类遗传变异分类

Shah, Neethu; Farris, Tierra; Zuniga, Arturo Alejandro; Jackson, Andrew R; Arce, Jessie; Riehle, Kevin; Preston, Christine G; Mandell, Mark E; Wulf, Bryan; Cheung, Gloria; Yu, Keyang; Ritter, Deborah I; Jevtic, Dubravka; Milinkov, Miroslav; Martinovic, Novak; Vucinic, Nevena; Mihajlovic, Aleksandar; Rubin, Alan F; Cline, Melissa S; Distefano, Marina; Griffith, Malachi; Griffith, Obi L; Wright, Matt W; Klein, Teri E; Plon, Sharon E; Milosavljevic, Aleksandar

Searching the Druggable Genome using Large Language Models

利用大型语言模型搜索可成药基因组

Schimmelpfennig, Lars; Cannon, Matthew; Cody, Quentin; McMichael, Joshua; Coffman, Adam C; Kiwala, Susanna; Krysiak, Kilannin; Wagner, Alex H; Griffith, Malachi; Griffith, Obi L

Identifying genetic errors of immunity due to mosaicism

识别由嵌合体引起的免疫基因缺陷

Schmitz, Elizabeth G; Griffith, Malachi; Griffith, Obi L; Cooper, Megan A

The Hao-Fountain syndrome protein USP7 regulates neuronal connectivity in the brain via a novel p53-independent ubiquitin signaling pathway.

郝方丹综合征蛋白 USP7 通过一种新型的不依赖于 p53 的泛素信号通路调节大脑中的神经元连接

Chen Hao, Ferguson Cole J, Mitchell Dylan C, Risch Isabel, Titus Amanda, Paulo Joao A, Hwang Andrew, Beck Loren K, Lin Tsen-Hsuan, Gu Wei, Song Sheng-Kwei, Yuede Carla M, Yano Hiroko, Griffith Obi L, Griffith Malachi, Gygi Steven P, Bonni Azad, Kim Albert H

SUN-365 Amiodarone-Induced Thyrotoxicosis: A race against time for a patient on the heart transplant list

SUN-365 胺碘酮诱发的甲状腺毒症:心脏移植等待名单上的患者与时间赛跑

Chiu, Connie G; Strugnell, Scott S; Griffith, Obi L; Jones, Steven J M; Gown, Allen M; Walker, Blair; Nabi, Ivan R; Wiseman, Sam M; Akella, Kavya; Beauti, Wisam; Pasqualicchio, Patrick; Batarseh, Tamara; Pareddy, Anisha; Yaqub, Abid

CIViC MCP: Integrating Large Language Models with the Clinical Interpretations of Variants in Cancer

CIViC MCP:将大型语言模型与癌症变异的临床解释相结合

Schimmelpfennig, Lars; Cody, Quentin; McMichael, Joshua; Coffman, Adam C; Saliba, Jason; Danos, Arpad; Kiwala, Susanna; Wagner, Alex; Sanz-Cruzado, Javier; Lever, Jake; Griffith, Malachi; Griffith, Obi L

Evaluating Language Models for Biomedical Fact-Checking: A Benchmark Dataset for Cancer Variant Interpretation Verification

评估用于生物医学事实核查的语言模型:癌症变异解释验证的基准数据集

Reisle, Caralyn; Grisdale, Cameron J; Krysiak, Kilannin; Danos, Arpad M; Khanfar, Mariam; Pleasance, Erin; Saliba, Jason; Hanos, Melika; Patel, Nilan V; Jain, Asmita; McMichael, Joshua F; Venigalla, Ajay C; Griffith, Malachi; Griffith, Obi L; Jones, Steven J M

Clonal dynamics of monozygotic twinning in early human embryogenesis

早期人类胚胎发生过程中单卵双胞胎的克隆动力学

Yoon, Christopher Jongsoo; Nam, Chang Hyun; Lee, Seung Mi; Choi, Eun Saem; Bae, Ji Hye; Kim, Haemin; Jung, Young Mi; Lim, Joonoh; Kim, Ryul; Derom, Catherine; Meireson, Eline; Weyers, Steven; Park, Jung Woo; Lee, Junehawk; Sung, Joohon; Griffith, Obi L; Griffith, Malachi; Jun, Jong Kwan; Ju, Young Seok

A New Era of Data-Driven Cancer Research and Care: Opportunities and Challenges

数据驱动型癌症研究与治疗的新时代:机遇与挑战

Gomez, Felicia; Danos, Arpad M; Del Fiol, Guilherme; Madabhushi, Anant; Tiwari, Pallavi; McMichael, Joshua F; Bakas, Spyridon; Bian, Jiang; Davatzikos, Christos; Fertig, Elana J; Kalpathy-Cramer, Jayashree; Kenney, Johanna; Savova, Guergana K; Yetisgen, Meliha; Van Allen, Eliezer M; Warner, Jeremy L; Prior, Fred; Griffith, Malachi; Griffith, Obi L