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Human Mutation|April 9, 2026
Integrated Radiomics Model Combining Diffusion Kurtosis Imaging and Dynamic Contrast-Enhanced MRI for Predicting TERT Promoter Mutation Status in GliomasSong Gao, Shenao Zhang, Yinjiao Wang, et al.
Human Mutation|April 8, 2026
Immunomodulatory Roles and Clinical Significance of GZMM and DDX24 in Sepsis: A Multiomics Integrative Analysis With Experimental ValidationYi Zhang, Liang Tang, Juan Wu, et al.
Human Mutation|April 20, 2026
A De Novo Mutation (c.2423A>G) in SAMD9 Causing MIRAGE Syndrome With Intrauterine Growth Retardation and Renal Hypoplasia in a Chinese FamilyYuxin Huang, Jiahui Fu, Zhongzhi Gan, et al.
Human Mutation|April 20, 2026
Integrative Genomic Analysis Identifies MAGT1 as a Key Regulator of Proliferation and Poor Prognosis in Breast CancerLiwen Zhao, Zhe Song
Human Mutation|May 4, 2026
Pathophysiological Significance of Variants of the HAND1 Gene Promoter in Congenital Atrial Septal Defects: A Study in 632 Chinese SubjectsJia-Le Qi, Huan-Xin Chen, Hai-Tao Hou, et al.
Human Mutation|May 4, 2026
X-Linked Hypophosphatemia Caused by a New Partial Insertion of LINE-1 in the PHEX GeneDongmei Li, Wan Peng, Lu Kang, et al.
Human Mutation|April 17, 2026
PAPPA2 c.392G>C Heterozygous Mutation Associates Primary Open-Angle Glaucoma in a Chinese FamilyGang Wang, Zilu Guo, Jing Ren, et al.
Human Mutation|May 11, 2026
Multiomics and Genomic Alteration Characterization Identifies VDAC1 as a Mitochondrial-Associated Biomarker in Pancreatic CancerWanliang Sun, Yifei Wang, Xuxu Qiao, et al.
Human Mutation|May 11, 2026
A Cuproptosis-Glycolysis Signature Predicts Prognosis and Highlights AURKA as a Therapeutic Target in ccRCCChang-Yu Ma, Ming-Xiao Zhang, Hao-Tian Tan, et al.
Human Mutation|May 7, 2026
Identification of a Germline XAF1 Mutation in Patients With Gastrointestinal CancersGuan-Xin Xu, Hang Zhang, Chang-Xing Wang, et al.
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