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Human Mutation|December 12, 2023
Specifications of the ACMG/AMP Variant Classification Guidelines for Germline DICER1 Variant CurationJessica N Hatton, Megan N Frone, Hannah C Cox, et al.
Human Mutation|May 10, 2024
A likelihood ratio approach for utilizing case-control data in the clinical classification of rare sequence variants: application to BRCA1 and BRCA2Maria Zanti, Denise G O'Mahony, Michael T Parsons, et al.
Human Mutation|May 20, 2026
Decoding the Sphingolipid Landscape of Clear Cell Renal Cell Carcinoma: A Single-Cell-Guided Prognostic Model Built With 101 Machine LearningJinbang Huang, Shunsheng Wang, Yaojun Zhou, et al.
Human Mutation|May 18, 2026
Secretory Lysosome-Related Gene Signature Defines the Immune Microenvironment and Identifies RGS2 as a Prometastatic Factor in Hepatocellular CarcinomaZhipeng Ye, BuLang Tang, Yuanjian Zhang, et al.
Human Mutation|May 18, 2026
The miR-146a/IGSF11 Axis Potentially Mediates the Protective Effect of Dexmedetomidine Against Cigarette Smoke-Induced Chronic Obstructive Pulmonary DiseaseXiao Chen, Dan Wang, Jing Du, et al.
Human Mutation|May 18, 2026
Integrative Mendelian Randomization and Multiomics Analysis Identifies CAF-Derived Complement Factor B as a Prognostic Biomarker and Therapeutic Vulnerability in Breast CancerHong Xiang, Na Ren, Ting Wang, et al.
Human Mutation|May 18, 2026
Integrative Systems Biology and Experimental Validation Unveil GALNT14 as a Novel Diagnostic Biomarker and Therapeutic Target for SepsisXiuqi Zhu, Yi Zhai, Jiali Yao, et al.
Human Mutation|March 11, 2026
ALOX5 Expression and Pathomics Features Reveal New Insights Into Lung Adenocarcinoma Prognosis: Model Construction and Functional ValidationPeihong Hu, Chun Huang, Xin Liu, et al.
Human Mutation|March 11, 2026
Recognition of a Critical Functional Domain and Improved PHOX2B Missense Variant Interpretation by Utilization of In Silico Prediction ToolsAndy Drackley, Andrew D Skol, Casey M Rand, et al.
Human Mutation|February 27, 2026
Analyses of ATP7B mRNA in Nasopharyngeal Swab Samples Increase Yields of Wilson Disease Molecular Genetic DiagnosticsLenka Steiner Mrázová, Alena Vrbacká, Filip Majer, et al.
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