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Human Mutation|October 27, 2026
Telomere Dynamics in Congenital Heart Defects: Hidden Architects of Cardiogenesis?Radha Joshi, Shaoni Nath, Sanjay GuptaHuman Mutation|October 28, 2026
Functional Characterization of an Immortalized Human Muscle Cell Line Carrying the Heterozygous RyR1 p.T4288_A4290dup Associated With RhabdomyolysisWen Jin, Irem Huriye Ceren, Kenshiro Kido, et al.Human Mutation|October 29, 2026
Integrative Multiomics Mendelian Randomization Prioritizes Endoplasmic Reticulum Stress-Related Genes Associated With Gastric Cancer RiskDong Yang, Yuanlin Liu, Xiangyu Meng, et al.Human Mutation|October 24, 2026
CCR5, CD163, CSF1R, and FCGR3A as Candidate Biomarkers Associated With Mitophagy in AtherosclerosisJiadong Fu, Yongda DongHuman Mutation|October 30, 2026
Thrombophilia-Related Gene Polymorphisms and Recurrent Miscarriages in Lebanese Population: A Case-Control StudyEhssan Sharif-Askari, Khadija Atoui, Ola Srour, et al.Human Mutation|October 30, 2026
Shining a Light on the Mechanisms of Drug Resistance to Anti-PD-1 Therapy in Non-small Cell Lung CancerHongsheng Guo, Mengmeng Jiang, Hailian Zhang, et al.Human Mutation|August 29, 2001
APECED mutations in the autoimmune regulator (AIRE) geneM Heino, P Peterson, J Kudoh, et al.Human Mutation|August 29, 2001
Identification of seven novel mutations including the first two genomic rearrangements in SLC26A3 mutated in congenital chloride diarrheaP Höglund, M Sormaala, S Haila, et al.Human Mutation|March 10, 2001
Glucocerebrosidase pseudogene variation and Gaucher disease: Recognizing pseudogene tracts in GBA allelesR Martínez-Arias, D Comas, E Mateu, et al.Human Mutation|March 10, 2001
An improved high throughput heteroduplex mutation detection system for screening BRCA2 mutations-fluorescent mutation detection (F-MD)S M Edwards, Z Kote-Jarai, R Hamoudi, et al.Pageof 583