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Human Mutation|April 27, 2026
A Novel MAP3K7 Variant Causing Loss of Function Identified in a Family With Cardiospondylocarpofacial Syndrome: Functional Validation and Molecular InsightsTing Zhu, Jiamin Shi, Jia Li, et al.Human Mutation|April 27, 2026
Variant-to-Biomarker Integration and Mechanistic Validation Identify CES1 as a Copy Number-Linked Predictor of Radiotherapy Response in Rectal CancerXiaodong Yang, Mingye Zheng, Xiaoxia Lu, et al.Human Mutation|April 27, 2026
Combined Nivolumab and Ipilimumab Therapy Promotes Immune-Mediated Cardiomyocyte Apoptosis Through TLR4-Myd88-NF-Κb-Driven Activation of the NLRP3 InflammasomeMengjiao Gao, Xinya Liu, Li Wu, et al.Human Mutation|April 27, 2026
Cholesterol Reprograms Oxysterol Metabolism via the LOX1/CH25H/CYP7B1 Signaling Axis to Drive Multidrug Resistance in Colorectal CancerHaixia Cheng, Luyao Huang, Jieshen Huang, et al.Human Mutation|April 29, 2026
Identification of a Novel VLDLR Variant in the First Report of CAMRQ1 From Africa: Expanding the Spectrum of Cerebellar Ataxia SyndromesAseel A Jawabri, Ainara Salazar-Villacorta, Henriette Senghor, et al.Human Mutation|August 20, 2026
A Pathogenic ANK1 c.5096G>A Mutation Disrupting the Ankyrin-1/β-Spectrin Interaction in Hereditary SpherocytosisXu Linglong, Gao Jingwen, Zhu Wenting, et al.Human Mutation|August 20, 2026
A Novel Splice Variant in the COL1A1 Gene Leads to Exon 46 Skipping and Osteogenesis ImperfectaYujun Zhang, Huibing Liu, Ailan Yin, et al.Human Mutation|August 14, 2026
Mitochondrial tRNASer(AGY) 12234A > G Mutation May Contribute to the Clinical Expression of Hypertrophic Cardiomyopathy-Associated tRNAIle 4263A > G MutationMengting Liu, Qinxian Guo, Shunrong Zhang, et al.Human Mutation|August 21, 2026
From Germline Variants to Tumor Outcome: GWAS-Based Functional Genomics Prioritizes Colorectal Cancer Susceptibility Genes and Links SMAD9 to PrognosisChengguang Hu, Guang Yang, Han Xiong, et al.Human Mutation|July 30, 2026
Mining Chemotherapy Resistance Related Genes in Breast Cancer to Construct a New Prognosis Prediction Model-Based on GEO Database and Real-World StudyZhaozhen Qiu, Xiaodong Dai, Jianfeng ZengPageof 583