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

ML-ExonCNV: a robust XGBoost multi-expert ensemble framework for rare exon CNV detection in whole-exome sequencing data

ML-ExonCNV:一种用于全外显子测序数据中罕见外显子拷贝数变异检测的稳健的 XGBoost 多专家集成框架

Yang, Shuang-Hao; He, Hua; Hou, Shuyu; Yang, Tuanfeng; Yin, Zehao; Zhang, Hong-Yu; Gu, Weiyue

Mutations in the spliceosomal gene SNW1 cause neurodevelopment disorders with microcephaly

剪接体基因SNW1的突变会导致伴有小头畸形的神经发育障碍

Ji, Lei; Yan, Jin; Losurdo, Nicole A; Wang, Hua; Liu, Liangjie; Li, Keyi; Liu, Zhen; Guo, Zhenming; Xu, Jing; Bibo, Adriana; Ren, Decheng; Yang, Ke; Luo, Yingying; Yang, Fengping; Wang, Gui; Xiang, Zhenglong; Wang, Yuan; Zhan, Huaizhe; Pan, Hu; Hu, Juanli; Zhong, Jianmin; Abou Jamra, Rami; Zacher, Pia; Musante, Luciana; Faletra, Flavio; Costa, Paola; Zanus, Caterina; Couque, Nathalie; Ruaud, Lyse; Cueto-González, Anna M; San Nicolas Fernández, Hector; Tizzano, Eduardo; Martinez Gil, Nuria; Liu, Xiaorong; Liao, Weiping; Abi Farraj, Layal; Huang, Alden Y; Zhang, Liying; Murali, Aparna; Schmuel, Esther; Han, Christina S; King, Kayla; Gu, Weiyue; Wang, Pengchao; Li, Kai; Link, Nichole; He, Guang; Bian, Shan; Mao, Xiao

Novel variant causing OTUD6B-related syndrome with ocular dysplasia and hypothyroidism: the first Chinese case

一种导致OTUD6B相关综合征伴眼部发育不良和甲状腺功能减退的新型变异:首例中国病例

Chen, Jing; Gao, Dan; Hu, Juan; Xu, Ke; Gu, Weiyue; Li, Jingjing; Zhu, Hongmin

Correction: SPOUT1 variants associated with autosomal-recessive developmental and epileptic encephalopathy

更正:SPOUT1 变异与常染色体隐性遗传性发育和癫痫性脑病相关

Liu, Wenwei; Gao, Kai; Du, Xilong; Wen, Sijia; Yan, Huifang; Wang, Jingmin; Wang, Yong; Song, Conglei; Lin, Li; Ji, Taoyun; Gu, Weiyue; Jiang, Yuwu

The first case of intellectual disability caused by novel compound heterozygosity for NUDT2 variants

首例由NUDT2变异的新型复合杂合性引起的智力障碍病例

Bi, Bo; Chen, Xiaohong; Huang, Shan; Peng, Min; Gu, Weiyue; Zhu, Hongmin; Ming, Yangcan

COPA syndrome caused by a novel p.Arg227Cys COPA gene variant

由一种新的p.Arg227Cys COPA基因变异引起的COPA综合征

Zheng, Yue; Du, Yue; Wu, Yubin; Li, Fuwei; Gu, Weiyue; Zhao, Chengguang

SPOUT1 variants associated with autosomal-recessive developmental and epileptic encephalopathy

SPOUT1 变异与常染色体隐性遗传性发育和癫痫性脑病相关

Liu, Wenwei; Gao, Kai; Du, Xilong; Wen, Sijia; Yan, Huifang; Wang, Jingmin; Wang, Yong; Song, Conglei; Lin, Li; Ji, Taoyun; Gu, Weiyue; Jiang, Yuwu

Metagenomic next-generation sequencing for detecting lower respiratory tract infections in sputum and bronchoalveolar lavage fluid samples from children

利用宏基因组二代测序技术检测儿童痰液和支气管肺泡灌洗液样本中的下呼吸道感染

Shi, Ruihe; Wang, Yuan; Zhou, Shujuan; Zhang, Yanli; Zheng, Shiwei; Zhang, Dingfang; Du, Xilong; Gu, Weiyue; Xu, Yiran; Zhu, Changlian

Genomic and molecular landscape of homologous recombination deficiency across multiple cancer types

多种癌症类型中同源重组缺陷的基因组和分子图谱

Shi, Zhiwen; Chen, Bolin; Han, Xiao; Gu, Weiyue; Liang, Shuzhi; Wu, Lin