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Human Mutation|July 22, 2026
From Variant Interpretation to Biomarker Translation: Multi-omics Integration in Inherited Neuromuscular DiseasesSuming Zhang, Xiaoling Lang, Lunxin Liu
Human Mutation|July 19, 2026
Multiomics Analysis Reveals CTHRC1+ CAFs Drive Immunosuppressive Niches and Predict Immunotherapy Resistance in Gastric CancerYingxin Wu, Ling-Han Tang, Ping Li, et al.
Human Mutation|June 22, 2026
Integrated Single-Cell and Bulk Transcriptomic Analysis Reveals an Endothelial Gene Signature Shaping EndMT and Prognosis in Hepatocellular CarcinomaFuqun Wei, Xiang You, Zhisheng Chen, et al.
Human Mutation|June 22, 2026
The Performance of In Silico Prediction Tools for Variant Curation in a Panel of Cancer GenesNiles Nelson, Aram Niaz, Kirsten Fairfax, et al.
Human Mutation|June 22, 2026
Compound Heterozygous Variants in the Phospholipase Gene PNPLA6 Cause Hypopituitarism and Vision LossSebastian Vishnopolska, James Liu, Maria Andrea Camilletti, et al.
Human Mutation|June 29, 2026
Modeling the Effects of Single Nucleotide Polymorphisms (SNPs) on the Structure and Function of the Human RET Gene: An In Silico StudyNabilah Anzoom, Md Arju Hossain, Md Tanvir Hossain, et al.
Human Mutation|June 19, 2026
From Germline Susceptibility to Therapeutic Vulnerability: DNA Damage Response Gene Mutations Driving Multiple Myeloma Evolution and Precision TherapyQian Shen, Ying Wang, Liuhuan Cai, et al.
Human Mutation|July 3, 2026
RETRACTION: "Differential Effects of AKT1(p.E17K) Expression on Human Mammary Luminal Epithelial and Myoepithelial Cells"Human Mutation
Human Mutation|June 29, 2026
Exploring the Functional Impact of Individual DDX41 Variants With a Fast and Robust Cell-Based MethodNikolaj Juul Nitschke, Marwa Almosailleakh, Issa Ismail Issa, et al.
Human Mutation|June 29, 2026
AI-Augmented Hematological Signatures for Equitable Detection of Hereditary Hemolytic Anemia Carriers: A Global Systematic Review and Meta-AnalysisNaif Taleb Ali, Radfan Saleh Abdullah, Mansour Abdulnabi H Mehdi, et al.
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