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Dermatology

Free Subscription Articles published in Hum Mutat Retrieve available abstracts of 18 articles: HTML format

Single Articles

January 2026
1. BONAMICI L, Artuso L, Marino M, Toss A, et al
   Characterization of Copy Number Variants in Hereditary Cancer Patients Through NGS Shows a Distinctive PALB2 Contribution to the Diagnostic Yield.
   Hum Mutat. 2026;2026:6601291.
   PubMed     Abstract available
   
   
   
2. ZHANG B, Wang F, Huang H, Zhong X, et al
   Tumor Microenvironment Characterization Identifies KIF15 as an Immunosuppressive Driver in Breast Cancer.
   Hum Mutat. 2026;2026:8861116.
   PubMed     Abstract available
   
   
   
3. MACCARONI E, Chiariotti R, Giampieri R, Bianchi F, et al
   Oncological Genetic Counseling in Hereditary Breast and Ovarian Cancers and Lynch Syndrome High-Risk Subjects: Evaluation of Efficacy and Outcomes Using the Genomics Outcome Scale.
   Hum Mutat. 2026;2026:7754087.
   PubMed     Abstract available
   
   
   
4. AL-MADHAGI HA, Shahab M, Guojun Z, Al-Madhagy G, et al
   Engineering of the Melanoma Inhibitor of Apoptosis (ML-IAP) Anticancer Peptide Through Comprehensive In Silico Approaches.
   Hum Mutat. 2026;2026:9356098.
   PubMed     Abstract available
   
   
   
5. ZHAO L, Song Z
   Integrative Genomic Analysis Identifies MAGT1 as a Key Regulator of Proliferation and Poor Prognosis in Breast Cancer.
   Hum Mutat. 2026;2026:8673018.
   PubMed     Abstract available
   
   
   
6. QUAN H, Shao L, Li Q, Dong C, et al
   Targeting the Vim-PGI(2) Pathway Enhances CD8(+) T Cell-Mediated Antitumor Immunity in Breast Cancer.
   Hum Mutat. 2026;2026:8880918.
   PubMed     Abstract available
   
   
   
7. ZHU T, Shi J, Li J, Zhou T, et al
   A Novel MAP3K7 Variant Causing Loss of Function Identified in a Family With Cardiospondylocarpofacial Syndrome: Functional Validation and Molecular Insights.
   Hum Mutat. 2026;2026:8024677.
   PubMed     Abstract available
   
   
   
8. MATTON C, Van De Velde J, De Bruyne M, Van De Sompele S, et al
   Variant Curation of the Largest Compendium of FOXL2 Coding and Noncoding Sequence and Structural Variants in BPES.
   Hum Mutat. 2026;2026:8478740.
   PubMed     Abstract available
   
   
   
9. GONG L, Xu Y, Guo W, Cai X, et al
   Exploring the Role of HNRNPA3 in Breast Cancer Progression, Immune Microenvironment, and Therapeutic Sensitivity: A Multiomics and Functional Prediction Study.
   Hum Mutat. 2026;2026:5519745.
   PubMed     Abstract available
   
   
   
10. GE J, Chen T, Ma Y, Wei S, et al
    Multiomics Characterization of GCSH + Macrophages Reveals Therapeutic Vulnerabilities and Immune-Metabolic Crosstalk in Triple-Negative Breast Cancer.
    Hum Mutat. 2026;2026:7893655.
    PubMed     Abstract available
    
    
    
11. ZHOU Y, Fang J, Fei L, Li H, et al
    A Mitoxyperilysis-Related Single-Cell and Machine-Learning Framework Defines an Immune-Cold Melanoma Phenotype and a Robust Prognostic Signature.
    Hum Mutat. 2026;2026:9909803.
    PubMed     Abstract available
    
    
    
12. XIANG H, Ren N, Wang T, Zheng X, et al
    Integrative Mendelian Randomization and Multiomics Analysis Identifies CAF-Derived Complement Factor B as a Prognostic Biomarker and Therapeutic Vulnerability in Breast Cancer.
    Hum Mutat. 2026;2026:2179334.
    PubMed     Abstract available
    
    
    January 2025
13. AHTING S, Popp D, Oppermann H, Strehlow V, et al
    Incorporating Nanopore Sequencing Into a Diverse Diagnostic Toolkit for Incontinentia Pigmenti.
    Hum Mutat. 2025;2025:6657400.
    PubMed     Abstract available
    
    
    
14. SOEJIMA M, Koda Y
    Simultaneous Genotyping of Three Nonsynonymous SNVs, rs1042602, rs1426654, and rs16891982 Involved in Skin Pigmentation by Fluorescent Probe-Based Melting Curve Analysis.
    Hum Mutat. 2025;2025:3468799.
    PubMed     Abstract available
    
    
    
15. KHAN TN, Liu C, Yap KL, Satti HS, et al
    Genetic Investigation and Transcriptome Profiling in a Nuclear Family With Peutz-Jeghers Syndrome.
    Hum Mutat. 2025;2025:5530710.
    PubMed     Abstract available
    
    
    
16. CAO Q, Zhao A, Long Z, Wang X, et al
    Optical Genomic Mapping and Next-Generation Sequencing Identified Retrotransposon Insertion and Missense Variant Disrupting PARN Gene in Dyskeratosis Congenita.
    Hum Mutat. 2025;2025:9290736.
    PubMed     Abstract available
    
    
    January 2024
17. LONNING PE, Nikolaienko O, Knappskog S
    Constitutional BRCA1 Epimutations: A Key for Understanding Basal-Like Breast and High-Grade Serous Ovarian Cancer.
    Hum Mutat. 2024;2024:7353984.
    PubMed     Abstract available
    
    
    
18. CLOWES V, Ma X, Maude H, Dennis C, et al
    Homozygous HOXC13 Variant Causes Pure Hair and Nail Ectodermal Dysplasia via Reduction in Protein Stability.
    Hum Mutat. 2024;2024:6420246.
    PubMed     Abstract available
    
    

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