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

Correction: Dominant negative ADA2 mutations cause ADA2 deficiency in heterozygous carriers

更正:显性负性ADA2突变会导致杂合子携带者出现ADA2缺乏症。

Wouters, Marjon; Ehlers, Lisa; Van Eynde, Wout; Kars, Meltem Ece; Delafontaine, Selket; Kienapfel, Verena; Dzhus, Mariia; Schrijvers, Rik; De Haes, Petra; Struyf, Sofie; Bucciol, Giorgia; Itan, Yuval; Bolze, Alexandre; Voet, Arnout; Hombrouck, Anneleen; Moens, Leen; Ogunjimi, Benson; Meyts, Isabelle

T cell and cytokine signatures as early predictors of response to IL-12/IL-23 inhibition in Crohn's disease

T细胞和细胞因子特征作为克罗恩病中IL-12/IL-23抑制剂疗效的早期预测指标

Martín Arranz, Eduardo; García-Ramirez, Laura; Van Den Rym, Ana; Suarez, Cristina; García-Solís, Blanca; Díaz-Iglesias, Nestor; López-Lera, Alberto; Corvillo, Fernando; Rueda García, José Luis; Blanco-San Miguel, Paula; Sánchez Azofra, María; Poza Cordón, Joaquín; Itan, Yuval; López-Collazo, Eduardo; Pérez de Diego, Rebeca; Martín-Arranz, María Dolores

Inherited burden for disease predisposition in diverse populations

不同人群中疾病易感性的遗传负担

Kayaalp, Barış; Kars, Meltem Ece; Itan, Yuval; Başak, Ayşe Nazlı; Casanova, Jean-Laurent; Özçelik, Tayfun

Molecular analysis and immunological characterization of a founder mutation causing ARPC1B deficiency

对导致ARPC1B缺陷的创始突变进行分子分析和免疫学表征

Dobrose, Megan M; Kars, Meltem Ece; Perez-Caraballo, Jareb J; Roark, Colleen M; Mariskanish, Christine; Zavaleta-Martinez, Oscar; Gomez-Hernandez, Noemi; Lugo-Reyes, Saul Oswaldo; Itan, Yuval; Blancas-Galicia, Lizbeth; Martínez-Barricarte, Rubén

Development of a genetic priority score to predict drug side effects using human genetic evidence

利用人类遗传证据开发预测药物副作用的遗传优先评分

Duffy, Áine; Chen, Robert; Stein, David; Park, Joshua K; Mort, Matthew; Verbanck, Marie; Schlessinger, Avner; Itan, Yuval; Cooper, David N; Jordan, Daniel M; Rocheleau, Ghislain; Do, Ron

Expanding the utility of variant effect predictions with phenotype-specific models

利用表型特异性模型扩展变异效应预测的实用性

Stein, David; Kars, Meltem Ece; Milisavljevic, Baptiste; Mort, Matthew; Stenson, Peter D; Casanova, Jean-Laurent; Cooper, David N; Boisson, Bertrand; Zhang, Peng; Schlessinger, Avner; Itan, Yuval

Distinct Roles for Thymic Stromal Lymphopoietin (TSLP) and IL-33 in Experimental Eosinophilic Esophagitis

胸腺基质淋巴细胞生成素 (TSLP) 和 IL-33 在实验性嗜酸性食管炎中的不同作用

Dsilva, Anish; Wagner, Ariel; Itan, Michal; Rhone, Natalie; Avlas, Shmulik; Gordon, Yaara; Davidian, Natalie; Sharma, Shraddha; Razravina, Elizaveta; Zan-Bar, Israel; Parnes, Jane R; Gorski, Kevin S; Sherrill, Joseph D; Varol, Chen; Ziegler, Steven F; Rothenberg, Marc E; Munitz, Ariel

Deciphering the digenic architecture of congenital heart disease using trio exome sequencing data

利用三重外显子组测序数据解读先天性心脏病的双基因结构

Kars, Meltem Ece; Stein, David; Stenson, Peter D; Cooper, David N; Chung, Wendy K; Gruber, Peter J; Seidman, Christine E; Shen, Yufeng; Tristani-Firouzi, Martin; Gelb, Bruce D; Itan, Yuval

Unveiling Novel Traits Associated with Ulcerative Colitis via Phenome-Wide Associations Enhanced by Polygenic Risk Statistics

利用多基因风险统计增强的表型组关联分析揭示与溃疡性结肠炎相关的新特征

Wu, Yiming; Liu, Ling; Kars, Meltem Ece; Li, Rui; Li, Menglong; Itan, Yuval