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Human Mutation|April 14, 2025
Evaluating the Utility of REVEL and CADD for Interpreting Variants in Amyotrophic Lateral Sclerosis GenesMichael R Fiorini, Allison A Dilliott, Sali M K FarhanHuman Mutation|December 22, 2025
Integrated Multiomics Unravels Hedgehog (HH) Signaling Characteristics in Pancreatic Cancer (PC) and DCBLD2 Regulates HH Signaling to Drive PC ProgressionBiao Zhang, Bingqian Huang, Xinya Zhao, et al.Human Mutation|November 28, 2025
The Role of Key Glycolytic Enzymes in the Diagnosis, Treatment, and Immune Microenvironment of Colorectal CancerHaijuan Gu, Chunhua Liu, Erdong Cai, et al.Human Mutation|December 22, 2025
Likely Pathogenic/Pathogenic Variants in the Spliceosome Complex Genes SNRNP200, SF3B1, SF3B2, and SF3B4 Implicated in Nonsyndromic Orofacial CleftPeyman Ranji, Eleonore Pairet, Raphael Helaers, et al.Human Mutation|January 1, 1997
DNA repair characteristics and mutations in the ERCC2 DNA repair and transcription gene in a trichothiodystrophy patientK Takayama, D M Danks, E P Salazar, et al.Human Mutation|August 26, 1998
Identification of Alu-mediated deletions in the Fanconi anemia gene FAAO Levran, N A Doggett, A D AuerbachHuman Mutation|June 15, 2026
SRSF1/Mcl-1 Axis Drives Apoptosis Evasion and Shapes the Immune Microenvironment to Promote Gastric Cancer ProgressionXingguang Liu, Deming Liu, Guangming Zhang, et al.Human Mutation|June 22, 2026
Cross-Strand Chimeric RNA Signature Predicts Prognosis and Identifies Tumor Immune Microenvironment Associations in Gastric CancerShuqiang Cheng, Miaomiao Cui, Xuehui Li, et al.Human Mutation|June 29, 2026
Lactylation-Related Genes in Ulcerative Colitis: A Multiomics Mendelian Randomization Study for Therapeutic Target DiscoveryNa An, Ruiyun Wang, Huiping Jiao, et al.Human Mutation|July 6, 2026
Autosomal Dominant Missense DAG1 Variant Linked to Mild-Moderate LGMD R16Edoardo Malfatti, Alexandru Caramizaru, Federica Trentin, et al.Pageof 575