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Human Mutation|March 9, 2026
GGPS1 Promoter Variant (rs3806394) Is Associated With Larger Simple Renal Cysts via Reduced GGPPS ExpressionKai Wang, Tianzhen Tang, Tao Xu, et al.
Human Mutation|April 10, 2026
Cellular Functional Analyses of ARX Variants Reveal New Insights Into Genotype-Phenotype Correlations in Neurodevelopmental Disorders Among Male and Female PatientsRasha Faraj, Audrey Farrugia, Anna C E Hurst, et al.
Human Mutation|April 10, 2026
Use of Single-Cell Data and scPagwas Analysis to Identify T Cell Subsets and Construct a Prognostic Model for Clear Cell Renal Cell CarcinomaXincheng Yi, Zongming Jia, Jixiang Wu, et al.
Human Mutation|April 9, 2026
FCGR2B + Macrophages as a Critical Node Linking Ferroptosis and Immunosuppression: A Multiomics Framework for Prognosis and Therapy in High-Grade Serous Ovarian CancerJialu Zhou, Tao Zeng, Yi Liu, et al.
Human Mutation|April 20, 2026
STIM1 as an Early Predictive Biomarker for Acute Respiratory Distress Syndrome (ARDS) and Its Potential MechanismsShuping Deng, Qi Wu, Dan Zhou, et al.
Human Mutation|May 1, 2026
ILF3 Regulates Cell Proliferation and Metastasis by Competitively Antagonizing the Interaction Between HMGCL and USP38 in Hepatocellular CarcinomaQingqing Luo, Lei Xiao, Ganlu Deng, et al.
Human Mutation|April 27, 2026
Visualization and Cluster Analysis of Peroxisome Proliferator-Activated Receptors in Colorectal Cancer: Research Trends and Future DirectionsBo Dong, Bin Zhou, Hong Zhang, et al.
Human Mutation|May 6, 2026
Periostin Safeguards EGFR-Driven Genomic Instability and Sustains the Immune-Suppressive Niche in GlioblastomaHongjun Liu, Shasha Tan, Jian Qi, et al.
Human Mutation|April 22, 2026
HSPB6: A Potential Prognostic Biomarker, Inhibiting the Epithelial-Mesenchymal Transition (EMT) Process Through the PI3K/Akt Signaling Pathway Based on the Machine Learning and Experimental ValidationJian-She Wang, Yi-Fan Qiu, Lu Zhang, et al.
Human Mutation|May 28, 2014
A novel homozygous mutation in FGFR3 causes tall stature, severe lateral tibial deviation, scoliosis, hearing impairment, camptodactyly, and arachnodactylyPeriklis Makrythanasis, Samia Temtamy, Mona S Aglan, et al.
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