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Human Mutation|September 26, 2026
Pathogenic LRSAM1 RING Domain Variants Disrupt Intracellular Protein Localization in Charcot-Marie-Tooth Disease Type 2PJohanna E Hakonen, Tom P Hellings, Esther Dingemanse, et al.
Human Mutation|September 25, 2026
Clinical and Molecular Delineation of KAT6B-Related Disorders: Novel Variants and Refined Genotype-Phenotype CorrelationsVito Luigi Colona, Maria Gnazzo, Annalidia Donato, et al.
Human Mutation|October 4, 2026
Genotype-Phenotype Relationships in Patients Carrying Biallelic FDXR Pathogenic Variants-New Cases and Systematic ReviewAntoine Paul, Ghizlene Lahlou, Sophie Achard, et al.
Human Mutation|September 29, 2026
Genotype and Phenotype of 198 Korean Patients With Nonlethal Osteogenesis Imperfecta: A Retrospective Cohort StudyJunpyo Lee, Hye Ran Lee, Jung Min Ko, et al.
Human Mutation|October 1, 2026
Genetic Analysis and Reproductive Intervention in a Duchenne Muscular Dystrophy Family With Cryptic Complex Chromosomal Rearrangement Identified by Structural Variation SequencingShengfang Qin, Xueyan Wang, Jin Wang, et al.
Human Mutation|October 15, 2026
Rapid and Sensitive Detection of USP26 Cluster Variants Based on CRISPR/Cas12aNing Li, Yongkun Huo, Yanan Zhao, et al.
Human Mutation|October 18, 2026
Insights Into RP2-Associated Retinopathy: From Molecular Basis to Clinical TranslationNina Bögershausen, Patricia Döring, Maximilian Gerhardt, et al.
Human Mutation|October 23, 2026
Identification of Immuno-Diagnostic and Therapeutic Markers in Tumors and Inflammatory Diseases Based on Single-Cell and Machine Learning MethodsJinfen Tang, Denggao Yuan, Zhou Wu, et al.
Human Mutation|November 2, 2026
Multiomics Dissection of Early-Onset Colorectal Cancer (EOCRC) Reveals an Immunosuppressive Microenvironment and Identifies FAT3 Mutation as a Biomarker of Hot-Like Immune FeaturesLiping Wang, Yanjun Lu, Weiyu Ma, et al.
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