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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.Human Mutation|April 13, 2026
Development of a Multiplex Amplification System Using Oxford Nanopore Sequencing for STRs and InDelsWei Han, Qingzhen Zhang, Xiaochang Zhang, et al.Human Mutation|May 8, 2026
Deubiquitination of ETV4 by USP7 Promotes NSCLC Tumorigenesis via MAPK7 ActivationXue Meng, Jiaxi Zhang, Ning Zhang, et al.Pageof 583