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

Multicenter international cohort study of haploinsufficiency of A20 reveals novel genetic architecture and phenotypic evolution

一项针对A20单倍体不足的多中心国际队列研究揭示了新的遗传结构和表型演变

He, Tingyan; Wang, Jun; Carpio Tumba, Manuel; Wang, Shihao; Luo, Youyou; Chen, Jie; Li, Guomin; Shu, Zhou; Zhang, Song; Stone, Deborah L; Huang, Yanyan; Lv, Qianying; Xiong, Wen; Wang, Jinbo; Yu, Zhongxun; Cuff, Charlotte Vera; Kairis, Elizabeth; Kethri, Akuti; Towheed, Atif; Goyette, Kyr; Karri, Urekha; Wang, Jiebiao; Liu, Chen; Romeo, Tina; Alsina, Laia; Rosenberg, Daniel L; Clemente, Daniel; López-Robledillo, Juan Carlos; Rong, Zanhua; Zhao, Xue; Jiang, Lijun; Aldave-Becerra, Juan Carlos; Muñoz-Urribarri, Ana Beatriz; Oommen, Prasad Thomas; Campbell-Stokes, Priscilla; Zhu, Meifang; Liu, Peng; Guo, Li; Xu, Yiping; Yu, Zihua; Tong, Huajuan; Qiu, Xiaojian; Zhang, Yazhi; Chen, Hongbo; Zhang, Changming; Ou, Junbin; Liu, Congcong; Liu, Jinxiang; Shen, Yunyan; Cao, Jianshe; Zhang, Xinping; Yang, Kangkang; Bao, Ying; Li, Zhijuan; Cao, Jie; Duan, Yuanhui; Liu, Fujuan; Shi, Buyun; Sun, Min; Ma, Li; Chen, Yongxing; Yang, Wei; Han, Xu; Ma, Shuangyue; Luo, Jie; Gu, Weiyue; Yu, Guoliang; Shi, Weina; Zhao, Ruiqin; Sun, Lei; Li, Wenhui; An, Yunfei; Tang, Xuemei; Zhao, Xiaodong; Han, Tongxin; Ma, Jing; Li, Yan; Piao, Yurong; Sun, Fei; Zhang, Dongfeng; Yin, Meina; Zheng, Shaoling; Li, Tianwang; Niu, Huizhong; Lin, Li; Mei, Shiyue; Zhou, Fang; Yang, Sirui; Li, Danlu; Yan, Mei; Zeng, Huasong; Zeng, Ping; Zheng, Wenjie; Li, Xiaozhong; Li, Xiaolin; Liu, Yuling; Huang, Lijuan; Yu, Haiguo; Fan, Zhidan; Shen, Min; Lu, Meiping; Fang, Zhihao; Rimland, Casey Allison; Song, Hongmei; Peterson, Lance W; Yousuf Al-Nesf, Maryam Ali; Aqel, Sami; Mudawi, Dalal Sideeg; Raje, Nikita; Slowik, Voytek; Harris, Julia G; Snyder, Brenda; Scheffler-Mendoza, Selma; Yamazaki-Nakashimada, Marco Antonio; Cooper, Megan A; Lau, Yu Lung; Cetin Gedik, Kader; Wang, Wenjie; Ying, Wenjing; Hou, Jia; Zhou, Qinhua; Sun, Bijun; Sun, Jinqiao; Wang, Xiaochuan; Ombrello, Amanda K; Huang, Ying; Wu, Hai-Lin; Sun, Li; Mao, Huawei; Yu, Xiaomin; Liu, Zhihong; Aksentijevich, Ivona; Kastner, Daniel L; Schwartz, Daniella M; Yang, Jun; Zhou, Qing

SDrecall: a sensitive approach for variant detection in segmental duplications

SDrecall:一种灵敏的片段重复序列变异检测方法

Yang, Xing Tian; She, Chun Hing; Zhang, CaiCai; Leung, Daniel; Yang, Jing; Chan, Koon-Wing; Duque, Jaime S Rosa; Lau, Yu Lung; Yang, Wanling

Identifying genetic and cellular connections and distinctions among 15 autoimmune diseases using an in-silico approach

利用计算机模拟方法识别15种自身免疫性疾病之间的遗传和细胞联系及区别

Dang, Xiao; Wang, Frank Qingyun; Zhang, Caicai; Lei, Yao; Su, Huidong; Yang, Cinderella Xinxin; Feng, Hong; She, Chun Hing; Chen, Xinxin; Yang, Xing Tian; Yang, Jing; Lau, Yu Lung; Wang, Yong-Fei; Yang, Wanling

Four doses of coronavirus disease 2019 vaccination for patients with inborn errors of immunity compared to 3 doses for healthy individuals

先天性免疫缺陷患者需接种四剂新冠病毒疫苗,而健康人群只需接种三剂。

Chan, Jeffery C H; Cheng, Samuel M S; Leung, Daniel; Wang, Xiwei; Wang, Manni; Cheuk, Yin Celeste; Ho, Cyrus; Tsang, Leo C H; Kwan, Tsz Chun; Lee, Amos M T; Li, Wing Yan; Lam, Jennifer H Y; Zhang, Kaiyue; Tam, Issan Y S; Chan, Sau Man; Chan, Koon Wing; Peiris, Malik; Tu, Wenwei; Lau, Yu Lung; Rosa Duque, Jaime S

A multimorphic variant in ThPOK causes an inborn error of immunity with T cell defects and fibrosis.

ThPOK 的多态性变异会导致先天性免疫缺陷,伴有 T 细胞缺陷和纤维化

Vaseghi-Shanjani Maryam, Sharma Mehul, Yousefi Pariya, Samra Simran, Laverty Kaitlin U, Jolma Arttu, Razavi Rozita, Yang Ally H W, Albu Mihai, Golding Liam, Lee Anna F, Tan Ryan, Richmond Phillip A, Bosticardo Marita, Rayment Jonathan H, Yang Connie L, Hildebrand Kyla J, Brager Rae, Demos Michelle K, Lau Yu-Lung, Notarangelo Luigi D, Hughes Timothy R, Biggs Catherine M, Turvey Stuart E

Achieving and sustaining measles elimination in Hong Kong, from 1967 to 2024: lessons to be learnt

从1967年到2024年,香港如何实现并维持麻疹消除:需要汲取的经验教训

Chan, Jeffery Ching Ho; Rosa Duque, Jaime S; Durrheim, David N; Tsang, Thomas; Lau, Yu Lung

A novel homozygous frameshift mutation likely causing nonsense-mediated mRNA decay in an Algerian kindred with CD19 complex deficiency

在阿尔及利亚一个患有 CD19 复合物缺陷的家族中,发现了一种新的纯合移码突变,该突变可能导致无义介导的 mRNA 降解。

Belaid, Brahim; Chan, Koon-Wing; Lamara Mahammed, Lydia; Leung, Daniel; Makhloufi, Sara; Bendaoud, Fadila; Sakhri, Hassiba; Berkani, Lilya Meriem; Allam, Ines; Merah, Fatma; Baaziz, Hadda; Lo, Bernice; Rosa Duque, Jaime Sou; Lau, Yu Lung; Djidjik, Reda

Case Report: Dual molecular diagnosis of gain-of-function STAT1 mutation and regulatory STAT3 variant in a patient with a hyper-IgE-like phenotype

病例报告:一名具有高IgE样表型的患者同时存在STAT1功能获得性突变和STAT3调控变异的双重分子诊断

Yaakoubi, Roukaya; Mekki, Najla; Ben Chehida, Amel; Benhammadi, Ansem; Chan, Koon-Wing; Leung, Daniel; Gharsallah, Charfeddine; Guerfali, Fatma Zahra; Barbouche, Mohamed-Ridha; Lau, Yu Lung; Ben-Ali, Meriem; Ben-Mustapha, Imen

Humoral and cellular immunogenicity of a fourth dose BNT162b2 in children with chronic kidney diseases

第四剂BNT162b2在慢性肾病患儿中的体液和细胞免疫原性

Chan, Jeffery C H; Chan, Eugene Yu-Hin; Cheng, Samuel M S; Leung, Daniel; Ho, Fanny Tsz-Wai; Tong, Pak-Chiu; Lai, Wai-Ming; Lee, Matthew H L; Chim, Stella; Tsang, Leo C H; Kwan, Tsz-Chun; Cheuk, Yin Celeste; Wang, Manni; Wong, Howard H W; Lee, Amos M T; Li, Wing Yan; Chan, Sau Man; Tam, Issan Y S; Lam, Jennifer H Y; Zhang, Kaiyue; Tu, Wenwei; Peiris, Malik; Rosa Duque, Jaime S; Lau, Yu Lung; Ma, Alison Lap-Tak

Perioperative anaphylaxis in children and first successful cisatracurium desensitization

儿童围手术期过敏反应及首次成功顺式阿曲库铵脱敏治疗

Lai, Sophie H Y; Lee, Rowena S M; Lam, Crystal K; Yik, Andrew K H; Lim, Qin Ying; Choi, Florence; Lynch, Donna M; Marquis, Kathleen A; Zhang, Kaiyue; Cheong, Kai-Ning; Leung, Karen K Y; Lau, Yu Lung; Yuen, Vivian M Y; Au, Elaine Y L; Castells, Mariana C; Rosa Duque, Jaime S