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Human Mutation|May 11, 2026
Identification of Two Novel Variants in CRYGD and OCRL Genes in the Chinese Population With Hereditary Congenital Cataracts Using Whole Exome SequencingJianlong Zhuang, Nan Huang, Yu E Chen, et al.Human Mutation|May 20, 2026
Integrative Genomic and Functional Analysis Reveals NF1 Loss as a Modifier of DNA Damage and Replication Stress Responses in Ovarian CancerShan He, Chengfeng Liu, Zhenyi Li, et al.Human Mutation|May 21, 2026
Type B Aortic Dissection Following Abdominal Aortic Aneurysm Repair in Loeys-Dietz Syndrome: A Novel TGFBR1 VariantYuchong Zhang, Shouji Qiu, Chengkai Hu, et al.Human Mutation|May 14, 2026
Decoding Pathogenic Mutational Landscapes in Alzheimer's Disease Through Integrated TranscriptomicsWan Ma, Fenfang Zhou, Huaying Cai, et al.Human Mutation|October 30, 2018
Genotype and phenotype variability in Sjögren-Larsson syndromeMaximilian Weustenfeld, Reiner Eidelpes, Matthias Schmuth, et al.Human Mutation|January 1, 1997
Diversity of ATM gene mutations detected in patients with ataxia-telangiectasiaP Concannon, R A GattiHuman Mutation|January 1, 1997
Mutations in the fumarylacetoacetate hydrolase gene causing hereditary tyrosinemia type I: overviewM St-Louis, R M TanguayHuman Mutation|May 22, 2026
Bifidobacterium breve Promotes the Pathogenesis of IBS by Downregulating the Expression of Ferroptosis-Related Molecule ERBB1: A Mendelian Randomization Mediation AnalysisLian Mo, Yue Wu, Yan Zhou, et al.Human Mutation|May 22, 2026
Bioinformatics Combined With Biological Experiments to Explore the Promotion of Lung Metastasis by CCL18 in the Immune Microenvironment of Colorectal CancerQingcheng Xia, Shuting Yin, Jiping Chen, et al.Human Mutation|June 8, 2026
A Novel LMX1A Frameshift Variant Underlies Familial Phenotypic Heterogeneity in DFNA7Chenyang Xu, Zhipeng Nie, Suyang Wang, et al.Pageof 583