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Human Mutation|August 13, 2021
GATA2 deficiency syndrome: A decade of discoveryClaire C Homan, Parvathy Venugopal, Peer Arts, et al.Human Mutation|August 13, 2021
Molecular basis of mucopolysaccharidosis IVA (Morquio A syndrome): A review and classification of GALNS gene variants and reporting of 68 novel variantsAlessandra Zanetti, Francesca D'Avanzo, Moeenaldeen AlSayed, et al.Human Mutation|August 5, 2021
A domain damage index to prioritizing the pathogenicity of missense variantsHua-Chang Chen, Jing Wang, Qi Liu, et al.Human Mutation|November 20, 2025
BCL6, DUSP3, and IL6R Are Identified as Shared Druggable Immune-Regulatory Axis in Atrial Fibrillation and Atherosclerosis Through Integrative In Silico and In Vitro AnalysisHaotian Zheng, Linxin Yang, Pengli Zhu, et al.Human Mutation|November 14, 2025
Glucokinase Regulatory Protein (GCKR) Links Metabolic Reprogramming With Immune Exclusion: Insights From a Pan-Cancer Analysis and Gastric Cancer ValidationShaohua Fan, Youfu He, Zhen Chen, et al.Human Mutation|November 26, 2025
The Role of Inflammatory Factors in the Pathogenesis of Gestational Diabetes Mellitus and May Be Potential Biomarkers for Its Diagnosis and PrognosisYuanyuan Guo, Xian Zheng, Jingru Jiao, et al.Human Mutation|November 17, 2025
Integrative Multiomics Analysis Identifies HK2 as a Key Regulator of Metabolic Reprogramming in Hepatic Stellate CellsLu Han, Fan Lu, Shaojie Chen, et al.Human Mutation|November 14, 2025
Multiomic Landscape Uncovers TRMT112 as a Central Driver of HPV-Positive Head and Neck Squamous Cell CarcinomaTongnan Yin, Qian Guo, Zhenwei Wen, et al.Human Mutation|January 12, 2026
RNA-Seq of Cultured Peripheral Blood Lymphocytes Improves Identification of Cryptic Splicing Defects in Rare Disease DiagnosticsJinlin Ren, Congling Dai, Fei Meng, et al.Human Mutation|January 26, 2026
Exosomal lncRNA FENDRR Orchestrates Immune Remodelling and Ferroptosis in the Comorbidity of Lung Cancer and Type 1 Myocardial InfarctionYoufu He, Yu Qian, Zhiwei Zheng, et al.Pageof 583