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

Gene4Denovo2: an updated platform for human de novo mutations discovery and interpretation

Gene4Denovo2:一个用于发现和解读人类新生突变的更新平台

Zhu, Zhaopo; Yu, Pei; Mao, Xinxin; Liu, Chenbin; Li, Kuokuo; Zhou, Qiao; Wang, Yijing; Luo, Tengfei; Xiang, Xudong; Zhu, Yixiao; Wu, Dai; Jian, Xingxing; Li, Bin; Tang, Beisha; Xia, Kun; Zhao, Guihu; Li, Jinchen

Large-scale profiling of blood microbial signatures in patients with Parkinson's disease and its association with disease progression: a cross-sectional study

帕金森病患者血液微生物特征的大规模分析及其与疾病进展的关系:一项横断面研究

Jian, Xingxing; Yu, Pei; Zhang, Yi; Pan, Hongxu; Wu, Keman; Zhang, Hongxi; Zhang, Hao; Huang, Yuanfeng; Zhao, Yuwen; Wang, Yige; Wang, Yijing; Zhou, Qiao; Zhang, Xiaotuan; Zhao, Guihu; Li, Bin; Guo, Jifeng; Xia, Kun; Tang, Beisha; Li, Jinchen

P4HA2 Participates in Pathogenesis of Refractive Error by Regulating Collagen Posttranslational Modification and Extracellular Matrix Balance.

P4HA2 通过调节胶原蛋白翻译后修饰和细胞外基质平衡参与屈光不正的发病机制。

Liu Yanling, Dong Shanshan, Huang Furong, Li Ruotong, He Xi, Jiang Yizheng, Tian Qi, Xiong Haofeng, Jin Liangyun, Wang Qiongsi, Xia Lu, Chen Jingjing, Wu Huidan, Guo Hui, Zhou Xiangtian, Xia Kun, Hu Zhengmao

Corrigendum to CERT1 mutations perturb human development by disrupting sphingolipid homeostasis

关于“CERT1突变通过破坏鞘脂稳态扰乱人类发育”一文的更正

Gehin, Charlotte; Lone, Museer A; Lee, Winston; Capolupo, Laura; Ho, Sylvia; Adeyemi, Adekemi M; Gerkes, Erica H; Stegmann, Alexander Pa; López-Martín, Estrella; Bermejo-Sánchez, Eva; Martínez-Delgado, Beatriz; Zweier, Christiane; Kraus, Cornelia; Popp, Bernt; Strehlow, Vincent; Gräfe, Daniel; Knerr, Ina; Jones, Eppie R; Zamuner, Stefano; Abriata, Luciano A; Kunnathully, Vidya; Moeller, Brandon E; Vocat, Anthony; Rommelaere, Samuel; Bocquete, Jean-Philippe; Ruchti, Evelyne; Limoni, Greta; Van Campenhoudt, Marine; Bourgeat, Samuel; Henklein, Petra; Gilissen, Christian; van Bon, Bregje W; Pfundt, Rolph; Willemsen, Marjolein H; Schieving, Jolanda H; Leonardi, Emanuela; Soli, Fiorenza; Murgia, Alessandra; Guo, Hui; Zhang, Qiumeng; Xia, Kun; Fagerberg, Christina R; Beier, Christoph P; Larsen, Martin J; Valenzuela, Irene; Fernández-Álvarez, Paula; Xiong, Shiyi; Śmigiel, Robert; López-González, Vanesa; Armengol, Lluís; Morleo, Manuela; Selicorni, Angelo; Torella, Annalaura; Blyth, Moira; Cooper, Nicola S; Wilson, Valerie; Oegema, Renske; Herenger, Yvan; Garde, Aurore; Bruel, Ange-Line; Tran Mau-Them, Frederic; Maddocks, Alexis Br; Bain, Jennifer M; Bhat, Musadiq A; Costain, Gregory; Kannu, Peter; Marwaha, Ashish; Champaigne, Neena L; Friez, Michael J; Richardson, Ellen B; Gowda, Vykuntaraju K; Srinivasan, Varunvenkat M; Gupta, Yask; Lim, Tze Y; Sanna-Cherchi, Simone; Lemaitre, Bruno; Yamaji, Toshiyuki; Hanada, Kentaro; Burke, John E; Jakšić, Ana Marija; McCabe, Brian D; De Los Rios, Paolo; Hornemann, Thorsten; D'Angelo, Giovanni; Gennarino, Vincenzo A

Disrupting integrator complex subunit INTS6 causes neurodevelopmental disorders and impairs neurogenesis and synapse development

整合复合物亚基INTS6的破坏会导致神经发育障碍,并损害神经发生和突触发育。

Peng, Xiaoxia; Jia, Xiangbin; Wang, Hanying; Chen, Jingjing; Zhang, Xiaolei; Tan, Senwei; Duan, Xinyu; Qiu, Can; Hu, Mengyuan; Hou, Haiyan; Parenti, Ilaria; Kuechler, Alma; Kaiser, Frank J; Renck, Alicia; Caylor, Raymond; Skinner, Cindy; Peeden, Joseph; Cogne, Benjamin; Isidor, Bertrand; Mercier, Sandra; Nicolas, Gael; Guerrot, Anne-Marie; Faletra, Flavio; Musante, Luciana; Cohen, Lior; Bergant, Gaber; Čuturilo, Goran; Peterlin, Borut; Seeley, Andrea; Bachman, Kristine; Martinez-Agosto, Julian A; van Ravenswaaij-Arts, Conny; Bos, Dennis; Kim, Katherine H; Bartolomaeus, Tobias; Schmederer, Zelia; Abou Jamra, Rami; Aref-Eshghi, Erfan; Zhao, Wenjing; Zou, Yongyi; Hu, Zhengmao; Pan, Qian; Li, Faxiang; Chen, Guodong; Li, Jiada; Hu, Zhangxue; Xia, Kun; Tan, Jieqiong; Guo, Hui

GoFCards: an integrated database and analytic platform for gain of function variants in humans

GoFCards:一个用于人类功能获得性变异的集成数据库和分析平台。

Zhao, Wenjing; Tao, Youfu; Xiong, Jiayi; Liu, Lei; Wang, Zhongqing; Shao, Chuhan; Shang, Ling; Hu, Yue; Xu, Yishu; Su, Yingluo; Yu, Jiahui; Feng, Tianyi; Xie, Junyi; Xu, Huijuan; Zhang, Zijun; Peng, Jiayi; Wu, Jianbin; Zhang, Yuchang; Zhu, Shaobo; Xia, Kun; Tang, Beisha; Zhao, Guihu; Li, Jinchen; Li, Bin

Early detection of Parkinson's disease through multiplex blood and urine biomarkers prior to clinical diagnosis

在临床诊断前,通过多重血液和尿液生物标志物早期检测帕金森病

Gao, Shuo; Wang, Zheng; Huang, Yuanfeng; Yang, Guang; Wang, Yijing; Yi, Yan; Zhou, Qiao; Jian, Xingxing; Zhao, Guihu; Li, Bin; Xu, Linyong; Xia, Kun; Tang, Beisha; Li, Jinchen

A PheWAS approach to identify associations of GBA1 variants with comprehensive phenotypes beyond neurological diseases

采用表型关联分析(PheWAS)方法,识别GBA1变异与神经系统疾病以外的多种表型之间的关联

Yang, Jiaqi; Huang, Yuanfeng; Wang, Zheng; Zhang, Shiyu; Wu, Dai; Xiong, Jiayi; Wu, Heng; Wang, Yijing; Zhou, Qiao; Zhu, Yixiao; Zhao, Guihu; Li, Bin; Guo, Jifeng; Xia, Kun; Tang, Beisha; Li, Jinchen

GastritisMIL: An interpretable deep learning model for the comprehensive histological assessment of chronic gastritis

GastitisMIL:一种用于慢性胃炎全面组织学评估的可解释深度学习模型

Xia, Kun; Hu, Yihuang; Cai, Shuntian; Lin, Mengjie; Lu, Mingzhi; Lu, Huadong; Ye, Yuhan; Lin, Fenglian; Gao, Liang; Xia, Qingan; Tian, Ruihua; Lin, Weiping; Xie, Lei; Tan, Decheng; Lu, Yapi; Lin, Xunting; Yang, Xiaoning; Zhong, Lingfeng; Xu, Lei; Zhang, Zhixin; Wang, Liansheng; Ren, Jianlin; Xu, Hongzhi

Ursodeoxycholic acid inhibits the uptake of cystine through SLC7A11 and impairs de novo synthesis of glutathione

熊去氧胆酸通过SLC7A11抑制胱氨酸的摄取,并损害谷胱甘肽的从头合成。

Fu'an Xie ,Yujia Niu ,Xiaobing Chen ,Xu Kong ,Guangting Yan ,Aobo Zhuang ,Xi Li ,Lanlan Lian ,Dongmei Qin ,Quan Zhang ,Ruyi Zhang ,Kunrong Yang ,Xiaogang Xia ,Kun Chen ,Mengmeng Xiao ,Chunkang Yang ,Ting Wu ,Ye Shen ,Chundong Yu ,Chenghua Luo ,Shu-Hai Lin ,Wengang Li