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Human Mutation|May 27, 2015
Microdeletions of ELP4 Are Associated with Language Impairment, Autism Spectrum Disorder, and Mental RetardationLaura Addis, Joo Wook Ahn, Richard Dobson, et al.
Human Mutation|February 9, 2026
Causal Relationships Between Plasma Metabolites, Inflammatory Factors, and Oral Cancer Risk: A Comprehensive Mendelian Randomization Study With Mediation AnalysisShaonan Hu, Chufeng Liu, Minghua Ren
Human Mutation|January 23, 2026
Proprotein Convertase Subtilisin/Kexin Type 9 Induces Platelet-Derived Transforming Growth Factor-β to Promote Myocardial Fibrosis After Myocardial InfarctionQianyun Wang, Wenxiang Huang, Dianmin Xia, et al.
Human Mutation|January 26, 2026
Exploring the Dynamic Changes of Intercellular Connections in Cervical Cancer: Insights From Transcriptomic Data Combined With Single-Cell SequencingRan Ji, Rui Geng, Zhaoyue Zhang, et al.
Human Mutation|January 26, 2026
Revealing the Action Mechanism of Exogenous Hydrogen Sulfide Intervention in Colorectal Cancer Pathogenesis Based on Multiomics Analysis and Experimental ValidationFacai Cui, Chen Yu, Weifeng Zhao, et al.
Human Mutation|January 14, 2026
Detection of Rare Thalassemia Variants Using Accurate Circular Consensus Long-Read SequencingXiaoqiang Zhou, Yue Chen, Shufen Chen, et al.
Human Mutation|January 12, 2026
Integrated Multiomics Analysis Reveals a Migrasome-Related Signature for Prognosis and Immunotherapy Response in Lung AdenocarcinomaJiayu Zhou, Tianye Song, Nengzheng Wang, et al.
Human Mutation|December 31, 2025
The Emerging TNNT3 Spectrum: From Distal Arthrogryposis to Congenital MyopathyNami Altin, Kamel Mamchaoui, Jessica Ohana, et al.
Human Mutation|December 10, 2025
Whole Genome Sequencing Improves the Identification of Pathogenic and Novel Variation in Nonsyndromic Hearing LossStefan Rentas, Ramakrishnan Rajagopalan, Tolga Ayazseven, et al.
Human Mutation|December 11, 2025
Integrative Transcriptomic and Machine Learning Analysis Identifies Key Senescence-Associated Secretory Phenotype Genes Associated With Immune Dysregulation in PeriodontitisJing Zeng, Jing Huang, Juan He, et al.
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