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Human Mutation|April 14, 2025
Splicing Analysis of MYO5B Noncanonical Variants in Patients with Low Gamma-Glutamyltransferase CholestasisLi Wang, Yi-Ling Qiu, Kuerbanjiang Abuduxikuer, et al.Human Mutation|April 14, 2025
Early-Onset Aortic Dissection: Characterization of a New Pathogenic Splicing Variation in the MYH11 Gene with Several In-Frame Abnormal TranscriptsPauline Arnaud, Margaux Cadenet, Zakaria Mougin, et al.Human Mutation|May 19, 2025
Single-Cell and Spatial Transcriptomics Explore Purine Metabolism-Related Prognostic Risk Model and Tumor Immune Microenvironment Modulation in Ovarian CancerYinglei Liu, Rui Geng, Songyun Zhao, et al.Human Mutation|May 15, 2025
Deletion Testing of the DEGS1 Gene Should Be Part of the Diagnostic Pipeline for Hypomyelinating Leukodystrophy (HLD18)Mariateresa Zanobio, Francesca Nardecchia, Gerarda Cappuccio, et al.Human Mutation|August 18, 2025
Multiomics Identifies Potential Biomarkers in Ankylosing Spondylitis Bone FormationLu Yang, Chunping Bo, Meiqi Chen, et al.Human Mutation|September 8, 2025
Functional Validation of Noncoding Variants Associated With Nonsyndromic Orofacial CleftSiying Zhu, Hongxu Tao, Robert A Cornell, et al.Human Mutation|October 22, 2025
Novel Algorithm for Monogenic Noninvasive Prenatal Testing With Highly Similar Parental Pathogenic Haplotypes: A Representative Case of Congenital Adrenal Hyperplasia PedigreeWenjing Zhou, Fulin Liu, Shaojun Li, et al.Human Mutation|October 16, 2025
Polycystic Ovary Syndrome May Be Associated With a Novel Mitochondrial tRNAAsp MutationYu Ding, Xuejiao Yu, Jian Xu, et al.Human Mutation|September 13, 2013
Inactivation of DNA mismatch repair by variants of uncertain significance in the PMS2 geneMark Drost, Hester Koppejan, Niels de WindPageof 582