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

The ulcerative colitis risk gene adenylyl cyclase 7 restrains the T-helper 2 phenotype and Class II antigen presentation

溃疡性结肠炎风险基因腺苷酸环化酶7抑制T辅助细胞2表型和II类抗原呈递。

Cardinale, Christopher J; Liu, Yichuan; Kevadia, Aayush; Strong, Alanna; Watts, Val J; Hakonarson, Hakon

Novel insights into the phenotypic spectrum and pathogenesis of Hardikar syndrome.

对哈迪卡综合征的表型谱和发病机制的新见解

Strong Alanna, March Michael E, Cardinale Christopher J, Liu Yichuan, Battig Mark R, Finoti Livia Sertori, Matsuoka Leticia S, Watson Deborah, Sridhar Sindura, Jarrett James F, Cannon India, Li Dong, Bhoj Elizabeth, Zackai Elaine H, Rand Elizabeth B, Wenger Tara, Lerman Bruce B, Shikany Amy, Weaver K Nicole, Hakonarson Hakon

Association of a rare NOTCH4 coding variant with systemic sclerosis: a family-based whole exome sequencing study

罕见的NOTCH4编码变异与系统性硬化症的关联:一项基于家族的全外显子组测序研究

Cardinale, Christopher J; Li, Dong; Tian, Lifeng; Connolly, John J; March, Michael E; Hou, Cuiping; Wang, Fengxiang; Snyder, James; Kim, Cecilia E; Chiavacci, Rosetta M; Sleiman, Patrick M; Burnham, Jon M; Hakonarson, Hakon

Meta-analysis of shared genetic architecture across ten pediatric autoimmune diseases

十种儿童自身免疫性疾病的共同遗传结构荟萃分析

Li, Yun R; Li, Jin; Zhao, Sihai D; Bradfield, Jonathan P; Mentch, Frank D; Maggadottir, S Melkorka; Hou, Cuiping; Abrams, Debra J; Chang, Diana; Gao, Feng; Guo, Yiran; Wei, Zhi; Connolly, John J; Cardinale, Christopher J; Bakay, Marina; Glessner, Joseph T; Li, Dong; Kao, Charlly; Thomas, Kelly A; Qiu, Haijun; Chiavacci, Rosetta M; Kim, Cecilia E; Wang, Fengxiang; Snyder, James; Richie, Marylyn D; Flatø, Berit; Førre, Øystein; Denson, Lee A; Thompson, Susan D; Becker, Mara L; Guthery, Stephen L; Latiano, Anna; Perez, Elena; Resnick, Elena; Russell, Richard K; Wilson, David C; Silverberg, Mark S; Annese, Vito; Lie, Benedicte A; Punaro, Marilynn; Dubinsky, Marla C; Monos, Dimitri S; Strisciuglio, Caterina; Staiano, Annamaria; Miele, Erasmo; Kugathasan, Subra; Ellis, Justine A; Munro, Jane E; Sullivan, Kathleen E; Wise, Carol A; Chapel, Helen; Cunningham-Rundles, Charlotte; Grant, Struan F A; Orange, Jordan S; Sleiman, Patrick M A; Behrens, Edward M; Griffiths, Anne M; Satsangi, Jack; Finkel, Terri H; Keinan, Alon; Prak, Eline T Luning; Polychronakos, Constantin; Baldassano, Robert N; Li, Hongzhe; Keating, Brendan J; Hakonarson, Hakon

CNV Analysis Associates AKNAD1 with Type-2 Diabetes in Jordan Subpopulations

CNV分析显示AKNAD1与约旦部分人群的2型糖尿病相关

Dajani, Rana; Li, Jin; Wei, Zhi; Glessner, Joseph T; Chang, Xiao; Cardinale, Christopher J; Pellegrino, Renata; Wang, Tiancheng; Hakooz, Nancy; Khader, Yousef; Sheshani, Amina; Zandaki, Duaa; Hakonarson, Hakon

A novel BHLHE41 variant is associated with short sleep and resistance to sleep deprivation in humans

一种新型的BHLHE41变异与人类睡眠时间短和对睡眠剥夺的抵抗力有关

Pellegrino, Renata; Kavakli, Ibrahim Halil; Goel, Namni; Cardinale, Christopher J; Dinges, David F; Kuna, Samuel T; Maislin, Greg; Van Dongen, Hans P A; Tufik, Sergio; Hogenesch, John B; Hakonarson, Hakon; Pack, Allan I

Transcriptome profiling of human ulcerative colitis mucosa reveals altered expression of pathways enriched in genetic susceptibility loci

人类溃疡性结肠炎黏膜的转录组分析揭示了富集于遗传易感位点的通路表达改变

Cardinale, Christopher J; Wei, Zhi; Li, Jin; Zhu, Junfei; Gu, Mengnan; Baldassano, Robert N; Grant, Struan F A; Hakonarson, Hakon