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Human Mutation|June 23, 2025
Functional Characterization of Variants in LARP7: Report of Three New Individuals With Alazami Syndrome and a Literature ReviewAnastasia Ambrose, Oana Caluseriu, Saadet Mercimek-AndrewsHuman Mutation|July 18, 2025
Identification and Functional Characterization of a Novel PRPS1 Variant in X-Linked Nonsyndromic Hearing Loss: Insights From Zebrafish and Cellular ModelsYining Wan, Jinqiu Li, Yingyuan Guo, et al.Human Mutation|July 18, 2025
Clinic Examination and Gene Diagnosis for a Birt-Hogg-Dubé Syndrome Family With a Novel flcn Frameshift Mutation Causing Nonsense-Mediated mRNA DegradationYang Xu, Jie Gao, Yang An, et al.Human Mutation|October 29, 2025
Identification of Novel Modifier Genes Associated With Pain in Cystic Fibrosis: An In Silico Gene DiscoveryAnastasia Ward, Ramil Mauleon, Chee Y Ooi, et al.Human Mutation|October 27, 2025
Prediction of Immunotherapy Response and Prognostic Outcomes for Patients With Ovarian Cancer Using PANoptosis-Related GenesLei Zhang, Bo Yang, Huiting Xiao, et al.Human Mutation|October 20, 2025
AIF1L as a Ferroptosis-Linked Biomarker in Microsatellite States-Driven Colorectal Cancer: Functional and Diagnostic Insights From Multiomics AnalysisYuanyuan Qin, Hongli Zhou, Lingyan Zhu, et al.Human Mutation|October 13, 2025
ETS1-Driven Nucleolar Stress Orchestrates OLR1+ Macrophage Crosstalk to Sustain Immunosuppressive Microenvironment in Clear Cell Renal Cell CarcinomaLei Xiao, Zicheng Zhang, Tong Li, et al.Human Mutation|October 17, 2025
One-Sided Matching Portal (OSMP): A Tool to Facilitate Rare Disease Patient MatchmakingMatthew Osmond, E Magda Price, Orion J Buske, et al.Human Mutation|August 14, 2025
Single-Cell RNA Sequencing Reveals LEF1 as a Prognostic Biomarker for Poor Outcomes in Oxaliplatin-Resistant Colorectal CancerPin Huang, Ke Guo, Jiancheng Tu, et al.Human Mutation|February 9, 2026
miR-221/222 Facilitate Pituitary Adenoma Progression Via PHACTR4 DownregulationWenjing Dong, Shiju Yan, Lingyun Song, et al.Pageof 583