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Human Mutation|June 8, 2026
Haplotype Construction Using Embryos as Probands of the Pathogenic Variations in EXT1, CUL3, and HBADefeng Shu, Yi Liu, Xiaoli Wang, et al.
Human Mutation|June 8, 2026
Study on the Mechanism of Hearing Loss Induced by USH2A Gene KnockoutChi Chen, Baicheng Xu, Jiong Dang, et al.
Human Mutation|June 8, 2026
YIF1B Mutational Dysregulation Drives Cutaneous Melanoma Progression by Remodeling the TMEXiaohan Wang, Yangxu Ding, Wenbo Cai, et al.
Human Mutation|May 14, 2026
Convergent Immune-Coagulation Programs Underlie Gastrointestinal Bleeding Risk in Portal Vein Tumor Thrombosis-Associated Hepatocellular Carcinoma and Portal HypertensionXu Rutao, Xiong Zhuxiang, Zhao Jichun, et al.
Human Mutation|May 22, 2026
A Mitoxyperilysis-Related Single-Cell and Machine-Learning Framework Defines an Immune-Cold Melanoma Phenotype and a Robust Prognostic SignatureYuze Zhou, Jiahong Fang, Lujing Fei, et al.
Human Mutation|May 18, 2026
Cross-Cohort Transcriptomic Integration Identifies IFIT2 as a Translational Diagnostic Biomarker and Functional Driver of Inflammation-Linked Tubular Injury in Chronic Kidney DiseaseXiaoling Zhang, Xueyan Chen, Ya Yang, et al.
Human Mutation|May 21, 2026
Frequent Detection of KRAS-G12C and PIK3CA-Q546K Mutations in MAP Tumors Highlights their Role in MUTYH Variants of Uncertain Significance ReclassificationAna Beatriz Deleame Medeiros, Vanessa Nascimento Kozak, Clarissa Gondim Picanço-Albuquerque, et al.
Human Mutation|May 27, 2026
Spectrum and Classification of CFTR and ADGRG2 Variants in Chinese Patients With Isolated CAVD: A Large Cohort Study and Risk Assessment of CFTR Variant Carriage in CouplesPing Yuan, Zhongkun Liang, Ling Zhou, et al.
Human Mutation|May 27, 2026
Clinically Translatable Mutation-Based Biomarkers in Ascending Aortic Aneurysm: A Bibliometric StudyFan Yang, Tan Yang, Xiaojun Xie, et al.
Human Mutation|May 25, 2026
ENPP2 Dysregulation Defines a Candidate Biomarker Axis Coupling Tumor-Intrinsic cAMP Signaling to Macrophage Polarization in Hepatocellular CarcinomaShiyi Chen, Jinli Zheng, Jianwu Long, et al.
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