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Human Genomics|January 9, 2025
Exploring the role of splicing in TP53 variant pathogenicity through predictions and minigene assaysCristina Fortuno, Inés Llinares-Burguet, Daffodil M Canson, et al.Human Genomics|December 30, 2024
Scrutinizing neurodegenerative diseases: decoding the complex genetic architectures through a multi-omics lensRelu Cocoș, Bogdan Ovidiu PopescuHuman Genomics|April 8, 2025
Reliability of clinical impressions and optimal genetic diagnostic strategies of heritable connective tissue disorders with ocular involvement in a large Chinese cohortQin-Meng Shu, Yu-Qiao Ju, Yuan Zong, et al.Human Genomics|December 1, 2024
Molecular basis of mucopolysaccharidosis type II (Hunter syndrome): first review and classification of published IDS gene variantsAlessandra Zanetti, Francesca D'Avanzo, Rosella TomaninHuman Genomics|December 1, 2024
The associations of candidate gene polymorphisms with aspirin resistance in patients with ischemic disease: a meta-analysisChun-Xing Li, Li-Chaoyue Sun, Yu-Qiao Wang, et al.Human Genomics|November 28, 2024
Long-read sequencing enables comprehensive molecular genetic diagnosis of Fabry diseaseFengxia Yao, Na Hao, Danhua Li, et al.Human Genomics|December 21, 2024
Identifying PTAFR as a hub gene in atherosclerosis: implications for NETosis and disease progressionChaowen Ye, Yunli Zhao, Wei Yu, et al.Human Genomics|November 17, 2024
Ralationship between polymorphisms and diplotypes of HLA-G 3'UTR and fetuses with abnormal chromosomes or unexplained pregnancy loss (UPL)Danping Xu, Yiyang Zhu, Jun Wang, et al.Human Genomics|November 14, 2024
Methyltransferase-like 3 represents a prospective target for the diagnosis and treatment of kidney diseasesBin Song, Xiaolong Wu, Yan ZengHuman Genomics|November 14, 2024
Identification and characterization of novel ferroptosis-related genes in acute myocardial infarctionQiaoyu Zhou, Ruizheng Shi, Jia Liu, et al.Pageof 112