Kate Thomson

Kate is a Principal Clinical Scientist in the Oxford Medical Genetics Laboratory and the lead scientist for inherited cardiac conditions. Since completing her DPhil with Prof Hugh Watkins in 2018, she has held an Honorary post at the Division of Cardiovascular Medicine, University of Oxford, and maintains a dual clinical and research role.

Kate’s research focuses on understanding the genetic basis of inherited cardiac conditions and using genome information to improve results interpretation in a clinical setting. She works with collaborators in the UK and internationally and is currently a co-investigator on the Rare Disease Research UK (RDRUK) Cardiovascular Initiative and a member of the Cure Heart team. 

Publications:

1. Clinical interpretation of KCNH2 variants using a robust PS3/BS3 functional patch-clamp assay. Thomson KL et al. (2024). Human Genetics and Genomics Advances
2. Common genetic variants and modifiable risk factors underpin hypertrophic cardiomyopathy susceptibility and expressivity. Harper AR et al. (2021). Nature Genetics
3. Reevaluation of the South Asian MYBPC3Δ25bp Intronic Deletion in Hypertrophic Cardiomyopathy. Harper AR et al. (2020). Circulation Genomics and Precision Medicine
4. Analysis of 51 proposed hypertrophic cardiomyopathy genes from genome sequencing data in sarcomere negative cases has negligible diagnostic yield. Thomson KL et al. (2019). Genetics in Medicine
5. Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. Walsh R et al. (2017). Genetics in Medicine