-
Epigenetic silencing of DLEC1 correlates with tumor immune microenvironment and predicts immunotherapy prognosis in multiple cancer
Author: Ming, Ruijie; Xiong, Qi; Tan, Shuh-Ying; Li, Lili; Bao, Shujie; Wang, Jianhua; Zhao, Lijuan; He, Xiaoqian; Zheng, Zeze; Wang, Yan; Liu, Xiaoyu; Tang, Jun; Wu, Zhongjun; Xiang, Tingxiu; Tao, Qian
Journal: HUMAN GENETICS. 2026; Vol. 145, Issue 1, pp. -. DOI: 10.1007/s00439-026-02828-3
-
Integrating machine learning and spatial transcriptomics uncovers shared immunomodulatory deubiquitinases in MAFLD and HC
Author: Han, Yu-xi; Li, Hongze; Xia, Wendi; Ma, Junyi; Zhang, Jiaqi; Li, Yiling
Journal: HUMAN GENETICS. 2026; Vol. 145, Issue 1, pp. -. DOI: 10.1007/s00439-026-02833-6
-
Human YTHDC2 mutations disturb RNA homeostasis of oocytes and early embryo
Author: Su, Wei; Wang, Yang; Sun, Jiaqi; Zhang, Changlong; Yin, Changjian; Cui, Ying; Chen, Xiaolei; Yang, Bohan; Zhao, Shigang; Wu, Keliang; Lin, Ge; Chen, Zi-Jiang; Zheng, Wei; Zhang, Honghui; Zhao, Han
Journal: HUMAN GENETICS. 2026; Vol. 145, Issue 1, pp. -. DOI: 10.1007/s00439-026-02818-5
-
Higher mitochondrial DNA methylation is associated with increased risk of stroke: a nested case-control stud
Author: Fu, Xueru; Fang, Yuewan; Zhao, Yujie; Yang, Bin; Su, Yaqin; Yang, Li; Huo, Weifeng; Wen, Liuding; Wu, Yuying; Zhao, Yang; Hu, Fulan; Zhang, Ming; Wen, Hongwei; Yin, Lei; Hu, Dongsheng; Chen, Chuande
Journal: HUMAN GENETICS. 2026; Vol. 145, Issue 1, pp. -. DOI: 10.1007/s00439-026-02823-8
-
Clinical characteristics and genetic variant spectrum of 27 patients with coagulation factor XI deficienc
Author: Ren, Juan; Yu, Yalin; Wang, Duanyang; Fang, Shuai; Chen, Xiuhua; Hao, Lixia; Zhao, Jiaoyu; Wang, Lei; Yang, Linhua; Wang, Gang
Journal: HUMAN GENETICS. 2026; Vol. 145, Issue 1, pp. -. DOI: 10.1007/s00439-026-02819-4
-
Profiling structural variations of the α-globin gene cluster by the single molecule real-time sequencing: remarkable diversity of the spectrum with rare and novel variants identified in a large Chinese cohor
Author: Wei, Dan; Cheng, Zifeng; Wei, Wei; Gui, Chunrong; Liu, Juliang; Chen, Hongfei; Ma, Yunting; Peng, XianWei; Yu, Dan; Huang, Yan; Lai, Yinghui; Gui, Baoheng
Journal: HUMAN GENETICS. 2026; Vol. 145, Issue 1, pp. -. DOI: 10.1007/s00439-025-02801-6
-
Accelerating genetic diagnostics in retinitis pigmentosa: implementation of a semi-automated bespoke cohort analysis workflow for Hong Kong Genome Projec
Author: Ying, Dingge; Kwok, Jamie Sui Lam; Chu, Annie Tsz Wai; Ma, Wei; Tam, Helen Ying Fung; Or, Dicky; Hue, Shirley Pik Ying; Li, Qing; Leung, Christopher Kai Shun; Chung, Brian Hon Yin
Journal: HUMAN GENETICS. 2025; Vol. 144, Issue 5, pp. 515-528. DOI: 10.1007/s00439-025-02737-x
-
Histone H3K36 methyltransferases NSD1 and SETD2 are required for brain developmen
Author: Chen, Bo; Zhang, Chenyang; Rui, Huanwen; Shen, Dan; Huang, Zhuxi; Feng, Weijun
Journal: HUMAN GENETICS. 2025; Vol. 144, Issue 5, pp. 529-543. DOI: 10.1007/s00439-025-02740-2
