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Human Mutation|November 9, 2022
Germline selection of PTPN11 (HGNC:9644) variants make a major contribution to both Noonan syndrome's high birth rate and the transmission of sporadic cancer variants resulting in fetal abnormalityJordan Eboreime, Soo-Kyung Choi, Song-Ro Yoon, et al.
Human Mutation|January 21, 2026
Systematic Pathway Screening via Integrated Machine Learning Identifies FOXO-Mediated Transcription Signature for Robust Immunotherapy Response Prediction in Non-Small Cell Lung CancerShuqi Wu, Chenxi Deng, Chaofan Fan, et al.
Human Mutation|February 9, 2026
Epithelial Cell-Specific Prognostic Signature (FTH1, RIT1, WASL, NDRG2, KIFC3) Stratifies Cervical Cancer Patients and Correlates With Immune InfiltrationXuegu Wang, Xingchen Pan, Xiang Li, et al.
Human Mutation|November 24, 2025
Integrated Analysis of Single-Cell RNA Sequencing and Machine Learning Reveals a T Cell-Specific PANoptosis Signature Predicting Prognosis and Immunotherapy in Prostate CancerHua Wang, Wenjin Li, Weiming Deng, et al.
Human Mutation|November 24, 2025
BST2 Drives Epithelial Ovarian Cancer Progression via Macrophage M2 Polarization, Neural Remodeling, and Immunosuppressive Microenvironment FormationLimin Zhang, Xiaoli Huang, Shaoyu Wang, et al.
Human Mutation|December 9, 2025
Insights Into the Pathological Glycosylation Associated With COG6-CDGZuzana Pakanová, Maroš Krchňák, Marek Nemčovič, et al.
Human Mutation|February 27, 2026
In silico Analysis of CHD4 Mutations Reveals Domain-Specific Impacts on Cardiovascular Disorders Among Patients With Rare DiseasesApolonia Novillo, Marta Ysbert, Rocío Brea, et al.
Human Mutation|May 6, 2026
Multiomics Analysis of Nucleotide Metabolism Highlights the Important Role of Adenylate Kinase 4 in Pancreatic CancerJun Li, Yiqun Yao, Wei Zhang, et al.
Human Mutation|May 6, 2026
Exploring the Role of HNRNPA3 in Breast Cancer Progression, Immune Microenvironment, and Therapeutic Sensitivity: A Multiomics and Functional Prediction StudyLijie Gong, Yang Xu, Weihui Guo, et al.
Human Mutation|April 10, 2026
ERMP1 Exerts Tumor-Suppressive Functions in KIRC by Inhibiting PI3K/AKT Signaling and Remodeling the Immune Microenvironment: A Pan-Cancer AnalysisZiyang Liu, Jiahao Shan, Tao Yang, et al.
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