Concepedia
6
Publications
232
Citations
H-Index
2017
Active since
Affiliations
Oxford University Hospitals NHS Trust(Current)
University College London
Wellcome Centre for Mitochondrial Research
Newcastle University
National Hospital for Neurology and Neurosurgery
Kate Sergeant is an author at Oxford University Hospitals NHS Trust.
Publications per year
2017–2023
Genetic testing for mitochondrial disease: the United Kingdom best practice guidelines
Eleni Mavraki, Robyn Labrum, Kate Sergeant et al. · European Journal of Human Genetics · 2022 · 75 citations · Full text
Use of FGF-21 as a Biomarker of Mitochondrial Disease in Clinical Practice
Alireza Morovat, Gayani Weerasinghe, Victoria Nesbitt et al. · Journal of Clinical Medicine · 2017 · 66 citations · Full text
Reevaluation of the South Asian <i>MYBPC3</i> <sup>Δ25bp</sup> Intronic Deletion in Hypertrophic Cardiomyopathy
Andrew R. Harper, Michael Bowman, Jesse B.G. Hayesmoore et al. · Circulation Genomic and Precision Medicine · 2020 · 40 citations · Full text
Pathological variants in <i>TOP3A</i> cause distinct disorders of mitochondrial and nuclear genome stability
Direnis Erdinc, Alejandro Rodríguez‐Luis, Mahmoud R. Fassad et al. · EMBO Molecular Medicine · 2023 · 25 citations · Full text
Biallelic Loss‐of‐Function <scp><i>NDUFA12</i></scp> Variants Cause a Wide Phenotypic Spectrum from Leigh/Leigh‐Like Syndrome to Isolated Optic Atrophy
Francesca Magrinelli, Elisa Calì, Vinícius Lopes Braga et al. · Movement Disorders Clinical Practice · 2021 · 16 citations · Full text
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