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Human Mutation|November 21, 2002
A common haplotype for the 677T thermolabile variant of the 5,10-methylenetetrahydrofolate reductase gene in thrombophilic patients and controlsM Linnebank, A Homberger, U Nowak-Göttl, et al.Human Mutation|May 29, 2026
Integrated Genomic and Single-Cell Analysis Reveals Heterogeneity, Prognosis, and Treatment Vulnerability in Urothelial CarcinomaChaozhi Tang, Yifan Liu, Tian-Long Wang, et al.Human Mutation|May 29, 2026
Integrative Multiomics Analysis Reveals Tumor-Associated Macrophage Heterogeneity and a Prognostic Signature in Gastric CancerZhaoyan Li, Ming Xu, Yuqing Huang, et al.Human Mutation|May 29, 2026
Single-Cell Transcriptomic Analysis Suggests That JUN May Regulate BAMBI to Promote Osteosarcoma Cell Migration and InvasionNing Song, Qiang Zhang, Junwei Du, et al.Human Mutation|October 22, 2015
Alternative Splicing in the Human PMP22 Gene: Implications in CMT1A NeuropathyDavide Visigalli, Patrizio Castagnola, Giovanna Capodivento, et al.Human Mutation|January 12, 2017
Structural, Functional, and Clinical Characterization of a Novel PTPN11 Mutation Cluster Underlying Noonan SyndromeLuca Pannone, Gianfranco Bocchinfuso, Elisabetta Flex, et al.Human Mutation|June 15, 2026
Structural Variant and Repeat Expansion Findings Identified by Optical Genome Mapping in Complex Autism Spectrum Disorder With Concomitant Neurodevelopmental DisordersMehmet Burak Mutlu, Özge Beyza Gündoğdu Öğütlü, Özlem Öz, et al.Human Mutation|June 18, 2026
Functional Analyses in Patient-Derived Neurons Establish Pathogenicity for STXBP1 Splice Variant c.429+5G>ASylvia Korhorn, Additya Sharma, Jan J Sprengers, et al.Human Mutation|July 2, 2026
Diagnostic Yield of Genome Sequencing in an Iranian Exome-Negative Autosomal-Recessive Intellectual Disability CohortEbrahim Shokouhian, Masoumeh Moslemi, Masoumeh Goleyjani Moghadam, et al.Human Mutation|June 29, 2026
Hypoxia-Associated Molecular Subtypes Reveal Immune Checkpoint, Ferroptosis, and m6A Regulatory Heterogeneity in Pediatric VasculitisBin LiuPageof 583