Concepedia
Author
Kate Sergeant
Also Known As
31
Publications
234
Citations
6
H-Index
0
Concepts
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All Concepts
232
Genetic testing for mitochondrial disease: the United Kingdom best practice guidelines
Eleni Mavraki, Robyn Labrum, Kate Sergeant, +11
European Journal of Human Genetics
2022
75
Use of FGF-21 as a Biomarker of Mitochondrial Disease in Clinical Practice
Alireza Morovat, Gayani Weerasinghe, Victoria Nesbitt, +8
Journal of Clinical Medicine
2017
66
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, +60
Circulation Genomic and Precision Medicine
2020
40
Pathological variants in <i>TOP3A</i> cause distinct disorders of mitochondrial and nuclear genome stability
Direnis Erdinc, Alejandro Rodríguez‐Luis, Mahmoud R. Fassad, +29
EMBO Molecular Medicine
2023
25
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, +23
Movement Disorders Clinical Practice
2021
16
Pitfalls of relying on genetic testing only to diagnose inherited metabolic disorders in non-western populations - 5 cases of pyruvate dehydrogenase deficiency from South Africa
Surita Meldau, Carl Fratter, Louisa Bhengu, +4
Molecular Genetics and Metabolism Reports
10
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