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

Sex Differences in Spontaneous Coronary Artery Dissection: A Report of the iSCAD Registry

自发性冠状动脉夹层中的性别差异:iSCAD 注册研究报告

Tam, Lori M; Naderi, Sahar; Chi, Gerald; Gornik, Heather L; Wells, Bryan J; Kadian-Dodov, Daniella; Grodzinsky, Anna; Taylor, Angela M; Hess, Connie N; Lewey, Jennifer; Henkin, Stanislav; Orford, James L; Lindley, Kathryn J; Wells, Gretchen L; Mauricio, Rina; Ouellette, Michelle L; Trost, Jeffrey; Koczo, Agnes; Saucier, Stephanie; Crousillat, Daniela R; Tolani, Sonia; Kovacic, Jason C; Gibson, C Michael; Leon, Katherine K; Wood, Malissa J; Kim, Esther S H

Expanding the Genetic Landscape of ATXN2 Variants: Insights From a Biallelic Trinucleotide Repeat Expansion in an Acadian Family

拓展ATXN2变异的遗传图谱:来自阿卡迪亚家族双等位基因三核苷酸重复扩增的启示

Saucier, Jacob; Al-Qadi, Mohammad; Allain, Eric Pierre; Robichaud, Philippe-Pierre; Chamard-Witkowski, Ludivine; Alvarez, Mario; Dion-Côté, Anne-Marie; Richard, Luc; Crapoulet, Nicolas; Ben Amor, Mouna

Understanding the burden of congenital cytomegalovirus (cCMV) infection: concept elicitation interviews with caregivers of pediatric cCMV patients and development of a conceptual disease model

了解先天性巨细胞病毒 (cCMV) 感染的负担:对儿科 cCMV 患者照护者进行概念启发式访谈并构建概念性疾病模型

Currie, Brooke M; Van Kriekinge, Georges; Pimienta, Aurélie; Saucier, Cory D; Jacobs, K D; Waldman, Laura Tesler; Salvatore, Christine M

A Qualitative Investigation of the Experience of Taking Xanomeline and Trospium Chloride for Schizophrenia, Part 1: Perceived Impact on Symptoms

对服用沙诺美林和托吡氯铵治疗精神分裂症的体验进行定性研究,第一部分:对症状的感知影响

Horan, William P; Saucier, Cory; Weiden, Peter J; Claxton, Amy; Marder, Stephen R; Foster, April M; Sauder, Colin; LaGasse, Kaitlin; Rucker, Sloan; Jackson, Kristi; Patel, Tej; Sonnenberg, John G; Kaul, Inder

"If You're Willing to Work…We Can Work With You": Obligatory Labor at Residential Substance Use Services Providers in North Carolina

“只要你愿意工作……我们就能与你合作”:北卡罗来纳州戒瘾服务机构的强制劳动

Carroll, Jennifer J; Salemi, Alejandra; Ostrach, Bayla; El-Sabawi, Taleed; Morrissey, Brandon; Dixon, Sarah; Saucier, Roxanne

Dominant interfering CARD11 variants disrupt JNK signaling to promote GATA3 expression in T cells

显性干扰型CARD11变体破坏JNK信号通路,从而促进T细胞中GATA3的表达。

Bradly M Bauman,Jeffrey R Stinson,Melissa A Kallarakal,Lei Haley Huang,Andrew M Frank,Gauthaman Sukumar ,Nermina Saucier,Clifton L Dalgard,Alice Y Chan,Joshua D Milner,Megan A Cooper,Andrew L Snow

Dominant interfering CARD11 variants disrupt JNK signaling to promote GATA3 expression in T cells

显性干扰型CARD11变体破坏JNK信号通路,从而促进T细胞中GATA3的表达。

Bradly M Bauman ,Jeffrey R Stinson ,Melissa A Kallarakal ,Lei Haley Huang ,Andrew M Frank ,Gauthaman Sukumar ,Nermina Saucier ,Clifton L Dalgard ,Alice Y Chan ,Joshua D Milner ,Megan A Cooper ,Andrew L Snow