Items where Author is "Thomson, Kate L."

Clasper, Susan and Trivedi, Gunjan and Thomson, Kate L. and Turner, Claire L.S. and Devaiah, Smrithi and Mercer, Catherine L. and Bdeir, Amnah Y. and Al-Aama, Jumana Y. and Dagriri, Khalid and Hobson, Alex R. and Sadagopan, Shankar N. and Ormerod, Julian and Szepesvary, Eszter and Phan, Justin and Fatkin, Diane and Vandenberg, Jamie I. and Bhuiyan, Zahurul A. and Ng, Chai-Ann (2025) Combined RNA Splicing and Patch-Clamp Analysis Reveal Pathogenicity of Splice-Altering Variants in KCNH2 -Related LQTS. Circulation: Genomic and Precision Medicine, 18 (2). ISSN 2574-8300

Thomson, Kate L. and Jiang, Connie and Richardson, Ebony and Westphal, Dominik S. and Burkard, Tobias and Wolf, Cordula M. and Vatta, Matteo and Harrison, Steven M. and Ingles, Jodie and Bezzina, Connie R. and Kroncke, Brett M. and Vandenberg, Jamie I. and Ng, Chai-Ann (2024) Clinical interpretation of KCNH2 variants using a robust PS3/BS3 functional patch-clamp assay. Human Genetics and Genomics Advances, 5 (2). p. 100270. ISSN 26662477

Ma, Joanne G. and O’Neill, Matthew J. and Richardson, Ebony and Thomson, Kate L. and Ingles, Jodie and Muhammad, Ayesha and Solus, Joseph F. and Davogustto, Giovanni and Anderson, Katherine C. and Shoemaker, M. Benjamin and Stergachis, Andrew B. and Floyd, Brendan J. and Dunn, Kyla and Parikh, Victoria N. and Chubb, Henry and Perrin, Mark J. and Roden, Dan M. and Vandenberg, Jamie I. and Ng, Chai-Ann and Glazer, Andrew M. (2024) Multisite Validation of a Functional Assay to Adjudicate SCN5A Brugada Syndrome–Associated Variants. Circulation: Genomic and Precision Medicine, 17 (4). ISSN 2574-8300

Jiang, Connie and Richardson, Ebony and Farr, Jessica and Hill, Adam P. and Ullah, Rizwan and Kroncke, Brett M. and Harrison, Steven M. and Thomson, Kate L. and Ingles, Jodie and Vandenberg, Jamie I. and Ng, Chai-Ann (2022) A calibrated functional patch-clamp assay to enhance clinical variant interpretation in KCNH2-related long QT syndrome. The American Journal of Human Genetics, 109 (7). pp.1199-1207. ISSN 00029297