Publications by authors named "Kate Sergeant"

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Pathological variants in TOP3A cause distinct disorders of mitochondrial and nuclear genome stability.
Direnis Erdinc, Alejandro Rodríguez-Luis, Mahmoud R Fassad, Sarah Mackenzie, Christopher M Watson, Kate Sergeant

EMBO Mol Med· May 2023

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Genetic testing for mitochondrial disease: the United Kingdom best practice guidelines.
Eleni Mavraki, Robyn Labrum, Kate Sergeant, Charlotte L Alston, Cathy Woodward

Eur J Hum Genet· February 2023

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Pathogenic SLC25A26 variants impair SAH transport activity causing mitochondrial disease.
Florian A Rosenberger, Jia Xin Tang, Kate Sergeant, Marco F Moedas, Charlotte M Zierz

Hum Mol Genet· June 2022

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Biallelic Loss-of-Function Variants Cause a Wide Phenotypic Spectrum from Leigh/Leigh-Like Syndrome to Isolated Optic Atrophy.
Francesca Magrinelli, Elisa Cali, Vinícius Lopes Braga, Uluç Yis, Hoda Tomoum, Kate Sergeant

Mov Disord Clin Pract· February 2022

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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 Ntombenhle Bhengu, Kate Sergeant, Kashief Khan

Mol Genet Metab Rep· September 2020

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Reevaluation of the South Asian Intronic Deletion in Hypertrophic Cardiomyopathy.
Andrew R Harper, Michael Bowman, Jesse B G Hayesmoore, Helen Sage, Silvia Salatino, Kate Sergeant

Circ Genom Precis Med· June 2020

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Use of FGF-21 as a Biomarker of Mitochondrial Disease in Clinical Practice.
Alireza Morovat, Gayani Weerasinghe, Victoria Nesbitt, Monika Hofer, Thomas Agnew, Kate Sergeant

J Clin Med· August 2017

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Alternative RNA splicing complexes containing the scaffold attachment factor SAFB2.
Kate A Sergeant, Cyril F Bourgeois, Caroline Dalgliesh, Julian P Venables, James Stevenin

J Cell Sci· January 2007

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