Dr Claire Hopton

NIHR Clinical Lecturer

Affiliations:
ORCID: 0000-0002-2889-4638
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Publications

1 - 9 out of 9Page size: 50
  1. 2021
  2. Published

    Pathogenic intronic splice-affecting variants in MYBPC3 in three patients with hypertrophic cardiomyopathy

    Newman, W., Wood, K., Thomas, H., Ellingford, J., O'Keefe, R., Hopton, C. & Eden, J., 2 Jun 2021, In: Cardiogenetics. 11, 2, p. 73-83

    Research output: Contribution to journal › Article › peer-review

    DOI: 10.3390/cardiogenetics11020009
  3. 2020
  4. Published

    Classification and correlation of RYR2 missense variants in individuals with catecholaminergic polymorphic ventricular tachycardia reveals phenotypic relationships

    Olubando, D., Hopton, C., Eden, J., Caswell, R., Thomas, N. L., Roberts, S. A., Venetucci, L. & Newman, W., 10 Mar 2020, In: Journal of Human Genetics. 65, p. 531-539

    Research output: Contribution to journal › Article › peer-review

    DOI: 10.1038/s10038-020-0738-6
  5. 2018
  6. Published

    Dysregulation of Ionic Homeostasis: Relevance for Cardiac Arrhythmias

    Hopton, C., Venetucci, L. & Lettieri, M., 2018, Channelopathies in Heart Disease. . p. 127-144 18 p.

    Research output: Chapter in Book/Report/Conference proceeding › Chapter

  7. Published

    Using human induced pluripotent stem cells to model a novel nonsense mutation of RYR2 and identify potential new therapeutic agents for patients with CPVT

    Hopton, C., Tijsen, A., Maizels, L., Huber, I., Arbel, G., Gepstein, A., Gepstein, L., Newman, W. & Venetucci, L., 2018, In: Journal of molecular and cellular cardiology. 120

    Research output: Contribution to journal › Meeting Abstract › peer-review

  8. Published

    Using human induced pluripotent stem cells to model a novel nonsense mutation of RYR2 and identify potential therapeutic agents for patients with CPVT

    Hopton, C., Tijsen, A., Maizels, L., Huber, I., Arbel, G., Gepstein, A., Gepstein, L., Newman, W. & Venetucci, L., 2018.

    Research output: Contribution to conference › Poster › peer-review

  9. 2016
  10. Published

    The characterisation of a novel nonsense mutation in RYR2 using human induced pluripotent stem cells

    Bailey, C., Tijsen, A., Maizels, L., Arbel, G., Gepstein, A., Huber, I., Venetucci, L., Newman, W. & Gepstein, L., 2016.

    Research output: Contribution to conference › Poster › peer-review

  11. Published

    The characterisation of a novel nonsense mutation in RYR2 using human induced pluripotent stem cells.

    Bailey, C., Tijsen, A., Maizels, L., Arbel, G., Gepstein, A., Huber, I., Venetucci, L., Newman, W. & Gepstein, L., 2016, In: European Journal of Human Genetics. 24

    Research output: Contribution to journal › Meeting Abstract › peer-review

  12. 2015
  13. Published

    Effective cascade screening through identification of a mutation in RYR2 in a large family with a history of sudden death.

    Bailey, C., Blair, E., Garratt, C. & Newman, W., 2015, In: Journal of Cardiology Cases. 13, 1, p. 9-13 5 p.

    Research output: Contribution to journal › Article › peer-review

  14. 2014
  15. Published

    Prevalence and determinants of anemia in older people with diabetes attending an outpatient clinic: A cross-sectional audit

    Trevest, K., Treadway, H., Hawkins-van der Cingel, G., Bailey, C. & Abdelhafiz, A. H., 16 Oct 2014, In: Clinical Diabetes. 32, 4, p. 158-62 5 p.

    Research output: Contribution to journal › Article › peer-review

    DOI: 10.2337/diaclin.32.4.158

Research Explorer downloads

37
Pathogenic intronic splice-affecting variants in MYBPC3 in three patients with hypertrophic cardiomyopathy

Research output: Contribution to journal › Article › peer-review

9
Classification and correlation of RYR2 missense variants in individuals with catecholaminergic polymorphic ventricular tachycardia reveals phenotypic relationships

Research output: Contribution to journal › Article › peer-review