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

Clinical relevance of mosaic variants detected by exome sequencing

外显子组测序检测到的嵌合变异的临床意义

Ghosh, Rajarshi; Fazal, Zeeshan; Oler, Andrew J; Tokita, Mari J; Lewis, Katie L; Paul, Alexander J; Schmitz, Elizabeth G; Saucier, Nermina; Yan, Jia; Kamen, Michael; Seifert, Bryce A; Klion, Amy D; Khoury, Paneez; Delmonte, Ottavia M; Notarangelo, Luigi D; Freeman, Alexandra F; Zerbe, Christa S; Uzel, Gulbu; Metcalfe, Dean D; Komarow, Hirsh D; Carter, Melody C; McDermott, David H; Murphy, Philip M; Olivier, Kenneth N; Fuss, Ivan; Strober, Warren; Rao, V Koneti; Bergerson, Jenna R E; Almeida de Jesus, Adriana; Goldbach-Mansky, Raphaela; Al-Herz, Waleed; Holland, Steven M; Cooper, Megan A; Similuk, Morgan N; Walkiewicz, Magdalena A

Clinical characteristics, management, and hematopoietic cell transplantation of patients with TLR8 gain-of-function

TLR8功能获得性突变患者的临床特征、治疗和造血干细胞移植

Arnold, Danielle E; Kaviany, Saara; Aluri, Jahnavi; Calvo, Katherine R; Mehta, Sarah S; Tobin, Joshua M; Schuettpelz, Laura G; Saucier, Nermina; Schmitz, Elizabeth G; Murguía-Favela, Luis; Wright, Nicola A M; De Ravin, Suk See; Rao, V Koneti; Holland, Steven M; Bleesing, Jack J; Loughran, Thomas P Jr; Feith, David J; Powell, Jonathan; Ratan, Aakrosh; Warren, Julia T; Pai, Sung-Yun; Bednarski, Jeffrey J; Connelly, James A; Cooper, Megan A

Retraction Note: Delayed administration of pyroglutamate helix B surface peptide (pHBSP), a novel nonerythropoietic analog of erythropoietin, attenuates acute kidney injury

撤稿声明:延迟给予新型非促红细胞生成素类似物——焦谷氨酸螺旋B表面肽(pHBSP)可减轻急性肾损伤。

Patel, Nimesh S A; Kerr-Peterson, Hannah L; Brines, Michael; Collino, Massimo; Rogazzo, Mara; Fantozzi, Roberto; Wood, Elizabeth G; Johnson, Florence L; Yaqoob, Muhammad M; Cerami, Anthony; Thiemermann, Christoph

Mutations associated with Alzheimer's disease and aged serum synergistically elicit blood-brain barrier dysfunction in a tissue-engineered model

在组织工程模型中,与阿尔茨海默病相关的突变和衰老血清协同诱导血脑屏障功能障碍。

Chung, Tracy D; Liang, Lily; Wang, Linus; Kim, Elizabeth G; Gupta, Sukriti; Pandey, Ikshu; Searson, Peter C

Process mapping the One Health response to a rabies outbreak in the Philippines

绘制菲律宾狂犬病疫情“同一健康”应对流程图

Formstone, Anna; Miranda, Mary Elizabeth G; Cruz, Van Denn Domingo; Manzanilla, Duane Raphael O; Rees, Eleanor M; Yuson, Mirava; Maestro, Jobin; Telmo, Shynie Vee M; Manalo, Daria L; Alabado, Brandy; Abarquez, Sheryl Pablo; Dilag, Ericson P; Bautista, Criselda; Craig, Peter; Hampson, Katie; Chng, Nai Rui

Improving Lifelong Comprehensive Care Coordination in Nephropathic Cystinosis: Multidisciplinary Perspectives

改善肾病性胱氨酸病患者的终身综合护理协调:多学科视角

Golestaneh, Ladan; Ames, Elizabeth G; Doyle, Maya H; Ghossein, Cybele; Grimm, Paul C; Hewlett, Jennifer L; Lim, Alaena; Marzinelli, Lauren S; Schmidt, Kimberly J; Smeryage, Bonnie; Zaritsky, Joshua J; Kaskel, Frederick J

Integrated Genomic and Transcriptomic Study Reveals MAPK11 and PER1 as Important Obesity Susceptibility Genes in a High-Risk Hispanic/Latino Population

整合基因组学和转录组学研究揭示 MAPK11 和 PER1 是高危西班牙裔/拉丁裔人群中重要的肥胖易感基因

Kim, Daeeun; Polikowsky, Hannah G; Highland, Heather M; Chen, Hung-Hsin; Zhu, Wanying; Zhang, Xinruo; Gillman, Madeline G; Frankel, Elizabeth G; Roshani, Rashedeh; Landman, Joshua M; Wang, Yujie; Young, Kristin L; Anwar, Mohammad Yaser; Krishnan, Mohanraj; Buchanan, Victoria L; Berndt, Sonja I; Arias, Joshua D; Raffield, Laura M; Gutierrez, Absalon D; Bishehsari, Faraz; Lee, Miryoung; McCormick, Joseph B; Fisher-Hoch, Susan P; Below, Jennifer E; North, Kari E; Graff, Mariaelisa

Uncoupling TGFβ1 signalling from collagen protein synthesis in Dupuytren's disease

在杜普伊特伦挛缩症中,TGFβ1信号传导与胶原蛋白合成的解偶联

Cooper, Gabriella; Gumbs, Jade A; Alkharabsheh, Sahem; Lee, Katie J; Carter, Alan; Coleman, Hannah; O'Heneghan-Yates, Niamh S; Ijaz, Rama; Beamish, Emma; Menezes, Lisa A; Liloglou, Triantafillos; Clegg, Peter D; Canty-Laird, Elizabeth G

Brain Amylin Signaling, Feeding, and Reward

脑内胰淀素信号传导、摄食和奖赏

Mietlicki-Baase, Elizabeth G