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

Enabling reproducible type 1 diabetes polygenic risk scoring for clinical and translational applications

实现可重复的 1 型糖尿病多基因风险评分,以用于临床和转化应用

Brasher, Maizy S; Fisher, Matthew J; Wild, Carolina Sanchez; Shortt, Jonathan A; Miller, Krista; Johnson, Randi K; Rafaels, Nicholas M; Kudron, Elizabeth L; Brooks, Ian M; Crooks, Kristy R; Oser, Sean M; Oser, Tamara K; Cole, Joanne B; Wiley, Laura K; Raghavan, Sridharan; Rasouli, Neda; Lin, Meng; Gignoux, Christopher R

Variation in Cilia Protein Genes and Progression of Lung Disease in Cystic Fibrosis

纤毛蛋白基因变异与囊性纤维化肺部疾病进展

Blue, Elizabeth; Louie, Tin L; Chong, Jessica X; Hebbring, Scott J; Barnes, Kathleen C; Rafaels, Nicholas M; Knowles, Michael R; Gibson, Ronald L; Bamshad, Michael J; Emond, Mary J

Telomerase mutations in smokers with severe emphysema

吸烟者重度肺气肿患者的端粒酶突变

Stanley, Susan E; Chen, Julian J L; Podlevsky, Joshua D; Alder, Jonathan K; Hansel, Nadia N; Mathias, Rasika A; Qi, Xiaodong; Rafaels, Nicholas M; Wise, Robert A; Silverman, Edwin K; Barnes, Kathleen C; Armanios, Mary

Targeted deep sequencing identifies rare loss-of-function variants in IFNGR1 for risk of atopic dermatitis complicated by eczema herpeticum.

靶向深度测序可识别 IFNGR1 中罕见的失活变异,从而降低特应性皮炎并发疱疹性湿疹的风险

Gao Li, Bin Lianghua, Rafaels Nicholas M, Huang Lili, Potee Joseph, Ruczinski Ingo, Beaty Terri H, Paller Amy S, Schneider Lynda C, Gallo Rich, Hanifin Jon M, Beck Lisa A, Geha Raif S, Mathias Rasika A, Barnes Kathleen C, Leung Donald Y M

Genetic variants in interferon regulatory factor 2 (IRF2) are associated with atopic dermatitis and eczema herpeticum

干扰素调节因子2 (IRF2) 的基因变异与特应性皮炎和疱疹性湿疹相关。

Gao, Pei-Song; Leung, Donald Y M; Rafaels, Nicholas M; Boguniewicz, Mark; Hand, Tracey; Gao, Li; Hata, Tissa R; Schneider, Lynda C; Hanifin, Jon M; Beaty, Terri H; Beck, Lisa A; Weinberg, Adriana; Barnes, Kathleen C

Human atopic dermatitis complicated by eczema herpeticum is associated with abnormalities in IFN-γ response

人类特应性皮炎合并疱疹性湿疹与IFN-γ反应异常有关

Leung, Donald Y M; Gao, Pei-Song; Grigoryev, Dmitry N; Rafaels, Nicholas M; Streib, Joanne E; Howell, Michael D; Taylor, Patricia A; Boguniewicz, Mark; Canniff, Jennifer; Armstrong, Brian; Zaccaro, Daniel J; Schneider, Lynda C; Hata, Tissa R; Hanifin, Jon M; Beck, Lisa A; Weinberg, Adriana; Barnes, Kathleen C

Tight junction defects in patients with atopic dermatitis

特应性皮炎患者的紧密连接缺陷

De Benedetto, Anna; Rafaels, Nicholas M; McGirt, Laura Y; Ivanov, Andrei I; Georas, Steve N; Cheadle, Chris; Berger, Alan E; Zhang, Kunzhong; Vidyasagar, Sadasivan; Yoshida, Takeshi; Boguniewicz, Mark; Hata, Tissa; Schneider, Lynda C; Hanifin, Jon M; Gallo, Richard L; Novak, Natalija; Weidinger, Stephan; Beaty, Terri H; Leung, Donald Y M; Barnes, Kathleen C; Beck, Lisa A

Reductions in claudin-1 may enhance susceptibility to herpes simplex virus 1 infections in atopic dermatitis

特应性皮炎患者中claudin-1的减少可能增加对1型单纯疱疹病毒感染的易感性

De Benedetto, Anna; Slifka, Mark K; Rafaels, Nicholas M; Kuo, I-Hsin; Georas, Steve N; Boguniewicz, Mark; Hata, Tissa; Schneider, Lynda C; Hanifin, Jon M; Gallo, Richard L; Johnson, David C; Barnes, Kathleen C; Leung, Donald Y M; Beck, Lisa A

Genetic variants in thymic stromal lymphopoietin are associated with atopic dermatitis and eczema herpeticum

胸腺基质淋巴细胞生成素的基因变异与特应性皮炎和疱疹性湿疹相关。

Gao, Pei-Song; Rafaels, Nicholas M; Mu, Deguang; Hand, Tracey; Murray, Tanda; Boguniewicz, Mark; Hata, Tissa; Schneider, Lynda; Hanifin, Jon M; Gallo, Richard L; Gao, Li; Beaty, Terri H; Beck, Lisa A; Leung, Donald Y M; Barnes, Kathleen C

Filaggrin mutations that confer risk of atopic dermatitis confer greater risk for eczema herpeticum

丝聚蛋白基因突变会增加患特应性皮炎的风险,同时也会增加患疱疹性湿疹的风险。

Gao, Pei-Song; Rafaels, Nicholas M; Hand, Tracey; Murray, Tanda; Boguniewicz, Mark; Hata, Tissa; Schneider, Lynda; Hanifin, Jon M; Gallo, Richard L; Gao, Li; Beaty, Terri H; Beck, Lisa A; Barnes, Kathleen C; Leung, Donald Y M