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Human Mutation|April 27, 2026
Single-Cell Transcriptomic Profiling and Machine Learning Integration Unveil Stromal Cell Heterogeneity in EndometriosisHuipeng Zhang, Yuli LuoHuman Mutation|May 6, 2026
A Single-Cell Multiomics Pipeline Maps YBX1 as a Functional Biomarker for Immune Evasion and Therapeutic Resistance in Prostate AdenocarcinomaChangcheng Luo, Dongxu Lin, Jingmin Yang, et al.Human Mutation|April 17, 2026
Targeting LY6E Inhibits Neuroblastoma Progression and Suppresses M2 Macrophage PolarizationLijuan Li, Yu Zeng, Qinfen Zhang, et al.Human Mutation|April 22, 2026
Prognostic Stratification and Subtyping of Glioblastoma Using Transient Receptor Potential ChannelsRunfeng Sun, Long Zhu, Zhichao Lu, et al.Human Mutation|May 15, 2026
Integrative Analysis of Vitamin D-Associated Genetic Variants Reveals Cis-Regulatory Architecture and Multigenic Mechanisms Underlying Chronic Disease-Relevant PathwaysJia Yue, Jinqing Zhang, Ke Xu, et al.Human Mutation|February 27, 2026
P4HA2 Participates in Pathogenesis of Refractive Error by Regulating Collagen Posttranslational Modification and Extracellular Matrix BalanceYanling Liu, Shanshan Dong, Furong Huang, et al.Human Mutation|March 4, 2026
Assessment of In-Frame Indel Variants in an Unsolved Cohort of Inherited Retinal Diseases Using Machine LearningDavid E Rauch, Meng Wang, Muhammad Jafar Hussain Hafiz, et al.Human Mutation|March 11, 2026
Oncological Genetic Counseling in Hereditary Breast and Ovarian Cancers and Lynch Syndrome High-Risk Subjects: Evaluation of Efficacy and Outcomes Using the Genomics Outcome ScaleElena Maccaroni, Rebecca Chiariotti, Riccardo Giampieri, et al.Human Mutation|October 1, 2003
Ten novel mutations in VMD2 associated with Best macular dystrophy (BMD)Franziska Krämer, Nicole Mohr, Ulrich Kellner, et al.Human Mutation|July 17, 1999
Insertion of Alu element responsible for acute intermittent porphyriaS Mustajoki, H Ahola, P Mustajoki, et al.Pageof 578