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

X-linked Deficiency in ELF4 in Females with Skewed X Chromosome Inactivation.

X染色体失活偏斜女性的ELF4 X连锁缺陷

Zhao Rongtao, Zhang Zhuo, Mei Shiyue, Sun Li, Zhang Qianlu, Lv Qianying, Zhou Fang, Sun Gan, Zhou Lina, Tang Xuemei, An Yunfei, Liu Zhifeng, Zhao Xiaodong, Du Hongqiang

Identification of three novel GNAO1 variants in a Chinese cohort with GNAO1 encephalopathy: expanding the clinical and genetic spectrum

在中国GNAO1脑病患者队列中鉴定出三种新的GNAO1变异:拓展了临床和遗传谱。

Mei, Daoqi; Gu, Yu; Zhang, Bingbing; Mei, Shiyue; Wang, Xiaona; Ma, Yuanning; Deng, Jie; Tang, Jihong

Case Report: Clinical manifestations and treatment of two Chinese patients with FINCA syndrome carrying a novel variant of NHLRC2

病例报告:两例携带NHLRC2新变异的中国FINCA综合征患者的临床表现及治疗

Liu, Yuemei; Wang, Hongling; Tang, Yu; Zhang, Lei; Su, Yanyan; Wang, Yanqion; Xu, Shasha; Mei, Shiyue; Jia, Chunyang; Shen, Yuelin; Tang, Xiaolei

Impact of COVID-19 on the Epidemiological Features of Mycoplasma pneumoniae Infection in Children with Community-Acquired Pneumonia in Henan, China

新冠肺炎疫情对中国河南省社区获得性肺炎患儿肺炎支原体感染流行病学特征的影响

Li, Lifeng; Guo, Pengbo; Ma, Jiayue; Sun, Huiqing; Mei, Shiyue

Clinical and genetic analysis of two patients with primary ciliary dyskinesia caused by a novel variant of DNAAF2

对两例由DNAAF2新变异引起的原发性纤毛运动障碍患者进行临床和基因分析

Dong, Lili; Zhang, Lei; Li, Xiao; Mei, Shiyue; Shen, Yuelin; Fu, Libing; Zhao, Shunying; Tang, Xiaolei; Tang, Yu

A novel PCDH19 missense mutation, c.812G>A (p.Gly271Asp), identified using whole-exome sequencing in a Chinese family with epilepsy female restricted mental retardation syndrome

通过全外显子组测序,在一个患有癫痫女性限制性智力低下综合征的中国家庭中发现了一个新的PCDH19错义突变,c.812G>A (p.Gly271Asp)。

Zhao, Xuechao; Wang, Yanhong; Mei, Shiyue; Kong, Xiangdong

Diagnostic Yields of Trio-WES Accompanied by CNVseq for Rare Neurodevelopmental Disorders.

三重全外显子组测序联合 CNVseq 对罕见神经发育障碍的诊断价值

Gao Chao, Wang Xiaona, Mei Shiyue, Li Dongxiao, Duan Jiali, Zhang Pei, Chen Baiyun, Han Liang, Gao Yang, Yang Zhenhua, Li Bing, Yang Xiu-An

Molecular genetic characterization of cblC defects in 126 pedigrees and prenatal genetic diagnosis of pedigrees with combined methylmalonic aciduria and homocystinuria

对 126 个家系的 cblC 缺陷进行分子遗传学表征,并对合并甲基丙二酸尿症和同型半胱氨酸尿症的家系进行产前基因诊断

Hu, Shuang; Mei, Shiyue; Liu, Ning; Kong, Xiangdong

Dendritic cell-associated miRNAs are modulated via chromatin remodeling in response to different environments

树突状细胞相关miRNA的表达受染色质重塑调控,以响应不同的环境变化。

Mei, Shiyue; Liu, Yuanhang; Bao, Yue; Zhang, Yuan; Min, Siping; Liu, Yifei; Huang, Yun; Yuan, Xidi; Feng, Yue; Shi, Jiandang; Yang, Rongcun