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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.Human Mutation|April 17, 2026
ALPL Mutations With Dominant-Negative Effect in Infantile Hypophosphatasia Monozygotic TwinsLuna Hao, Na Huang, Yilun Tao, et al.Human Mutation|April 17, 2026
A Pan-Cancer Atlas of TIPE2 Identifies Its Association With the Tumor Immune Microenvironment, Prognosis, and Immunotherapeutic PotentialHui Cao, Wenyu Jia, Hao Yang, et al.Human Mutation|May 11, 2026
FBXW7-Related Neurodevelopmental Disorder: Clinical Spectrum, Molecular Mechanisms, and Tumor PredispositionS Savasta, F F Comisi, E Fiumicelli, et al.Human Mutation|May 15, 2026
Integrated Bulk and Single-Cell Transcriptomic Analysis Reveals Xenobiotic Metabolism Genes Drive Progression From Liver Cirrhosis to Hepatocellular CarcinomaHao Xu, Yanpeng Li, Rui Zhao, et al.Human Mutation|May 18, 2026
MLH1 Constitutional Epimutation Screening Requires Highly Sensitive Assays to Identify Lynch Syndrome Patients With Very Low Mosaic Methylation LevelCédric Facon, Catherine Vermaut, Lucie Delattre, et al.Human Mutation|May 18, 2026
Novel Variants in the SLC16A2 Gene Associated With Allan-Herndon-Dudley Syndrome in ChinaWei Li, Zijia Sun, Xiao Wu, et al.Human Mutation|May 18, 2026
A Propionate Metabolism-Based Gene Signature Reveals Immunogenomic and Transcriptomic Determinants of Prognosis in Glioblastoma Through Multiomics IntegrationMengtong Li, Jiayi Liu, Zichen Liu, et al.Human Mutation|April 13, 2026
Assessing Allele Frequency Information: A Study of Variant Curation Expert Panel GuidelinesXiaoyan Wang, Tongmei Zhang, Yayun Qin, et al.Pageof 578