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Human Mutation|August 19, 2021
PRPH2 mutation update: In silico assessment of 245 reported and 7 novel variants in patients with retinal diseaseManon H C A Peeters, Mubeen Khan, Anoek A M B Rooijakkers, et al.
Human Mutation|December 3, 2025
Consensus Integration of Multiomics Data With Machine Learning Algorithms Reveals Heterogeneous Molecular Subtypes and Enables Personalized Treatment Strategies for Hepatocellular CarcinomaZhipeng Jin, Kun Fang, Xue Zhang, et al.
Human Mutation|December 8, 2025
Integrated Genomic and Functional Characterization of Palmitoylation in Clear Cell Renal Cell CarcinomaDong Zhang, Ke Zhang, Minghao Deng, et al.
Human Mutation|December 15, 2025
Identification of Aging-Related Hub Genes (ATP11B, RBBP7, DOCK10, and NUP160) as Potential Biomarkers and Therapeutic Targets in SepsisXueyi Sun, Shaolei Geng, Zeyuan Wang, et al.
Human Mutation|January 26, 2026
Acetylated Pyrimidine Metabolism Genes as Prognostic Markers and Their Influence on Immune Profiles in Lung AdenocarcinomaKegang Jia, Shuwei Zhang, Yangke He, et al.
Human Mutation|January 26, 2026
Tumor Microenvironment Characterization Identifies KIF15 as an Immunosuppressive Driver in Breast CancerBo Zhang, Feiran Wang, Huiwei Huang, et al.
Human Mutation|January 12, 2026
Itaconate-Related Gene Signatures as Prognostic Markers in Colon Cancer: Insights From Transcriptomic and Spatial AnalysisTingting Zhang, Jianchao Meng, Qingyun Wang, et al.
Human Mutation|January 16, 2026
Molecular Landscape and Predictive Significance of Programmed Cell Death-Related Genes in SepsisShiqiang Min, Tao Zhang, Song Chen, et al.
Human Mutation|December 24, 2025
Development of Novel PANoptosis-Related Gene Signatures to Predict the Prognosis of Patients With Stomach AdenocarcinomaXin Wu, Linde Sun, Peifa Liu, et al.
Human Mutation|July 16, 2025
Immune Dysregulation and Prognosis in Sepsis: Insights From a Posttranslational PerspectiveYifeng Ye, Qiaoling Chen, Dongjin Wu, et al.
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