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Human Mutation|August 23, 2026
Multiomic Investigation of Shared Genetic Pathways in Paediatric Congenital Heart Disease and Neurodevelopmental DisordersJamie-Lee M Thompson, Yunkai Gao, Eri Iwasawa, et al.Human Mutation|August 14, 2026
Mutation Severity of FBXO43 Determines Spermatogenic Outcome and Informs Precision ART StrategiesYanqin Xiao, Yutong He, Lanlan Meng, et al.Human Mutation|August 22, 2026
Bridging the Gap: High-Resolution RHCE Genotyping by Third-Generation Sequencing Enhances Serological Interpretation of Weak VariantsFan Wu, Li-Yan Sun, Shuang LiangHuman Mutation|August 22, 2026
Pathogenic Variants in PET Complex Encoding Genes TDRD12 and EXD1 Impair piRNA Biogenesis and Cause Male InfertilityBeibei Zhang, Ao Ma, Hongyi Wang, et al.Human Mutation|August 6, 2026
Structural Genomics Defines PBRM1 Bromodomain Variant Function in ccRCCKarina L Bursch, Salomão D Jorge, Audrey E Catlin, et al.Human Mutation|September 25, 2026
SCN5A U12-Type Minor Intron Variant Causes Cryptic Splicing and Cardiac Arrhythmia DiseaseEmma S Singer, Serena Li, Ginell N Ranpura, et al.Human Mutation|September 10, 2026
Bayesian Integration of Tumor Mutational Signatures and Somatic Features Refines Pathogenicity Assessment of Germline Mismatch Repair VariantsYonatan Amzaleg, Kevin J McDonnell, Gregory E Idos, et al.Human Mutation|August 26, 2026
Identification of PD-1-Related Genes as Prognostic Biomarkers in Lung AdenocarcinomaBin Jia, Ting Gong, Chen Chen, et al.Human Mutation|June 2, 2025
Global Research Trends and Hotspots in the Role of Cholesterol in Colorectal Cancer: A Bibliometric AnalysisJun Pu, Yamin Zhao, Yu Wu, et al.Human Mutation|October 8, 2026
X;7 Translocation at p21.1 and q31.31 Disrupting DMD: A Multiomics Study of a Male Dystrophinopathy CaseRui Dong, Kai Ma, Yuexia Bai, et al.Pageof 583