Human mutation - JoVE Visualize

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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.

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.

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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.

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.

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