The ERBB2 c.1795C>T, p.Arg599Cys variant is associated with left ventricular outflow tract obstruction defects in humans

    Minna Ampuja, Sabina Ericsson, Ilkka Paatero, Iftekhar Chowdhury, Jenna Villman, Martin Broberg, Amanda Ramste, Diego Balboa, Tiina Ojala, Jessica X. Chong, Michael J. Bamshad, James R. Priest, Markku Varjosalo, Riikka Kivelä, Emmi Helle

    Human Genetics and Genomics Advances (2025)

    Published on February 17, 2026

    DOI: https://doi.org/10.1016/j.xhgg.2025.100446

    Core: Advanced Imaging Core
    ← Back to Publications
    User Publication
    <i>Staphylococcus aureus</i> Augments Epithelial Skin Barrier Damage Through T Cell Activation in Cutaneous T Cell Lymphoma
    M. Gluud et al. • 2026 • Allergy
    Core:Cytometry Core
    User Publication
    Fast label-free live imaging with FlowVision reveals key principles of cancer cell arrest on endothelial monolayers
    G. Follain et al. • 2026 • The EMBO Journal
    Core:Advanced Imaging Core
    User Publication
    Synthesis and Characterization of Glyco‐Decorated Silsesquioxane‐Metallosalen Complexes
    H. Haapsaari et al. • 2026 • ChemistrySelect
    Core:Protein Structure and Chemistry
    User Publication
    Functional characterization and directed evolution of Cicer arietinum glutathione transferases for enhanced hydroperoxidase activity and ligandin function
    A. Kontouri et al. • 2026 • Phytochemistry
    Core:Protein Structure and Chemistry
    User Publication
    Isomeric cues direct macrocycle selection from complex chemical systems for selective separation and recycling
    X. Wang et al. • 2026 • Cell Reports Physical Science
    Core:Protein Structure and Chemistry

    More Publications