Kate Sergeant
Publications by Year
Research Areas
Digital Humanities and Scholarship, Philosophy, History, and Historiography, Digital and Traditional Archives Management, Metabolism and Genetic Disorders, Australian History and Society
Most-Cited Works
- → Genetic testing for mitochondrial disease: the United Kingdom best practice guidelines(2022)76 cited
- → Use of FGF-21 as a Biomarker of Mitochondrial Disease in Clinical Practice(2017)67 cited
- → Reevaluation of the South Asian MYBPC3 Δ25bp Intronic Deletion in Hypertrophic Cardiomyopathy(2020)41 cited
- → Pathological variants in TOP3A cause distinct disorders of mitochondrial and nuclear genome stability(2023)25 cited
- → Biallelic Loss‐of‐Function NDUFA12 Variants Cause a Wide Phenotypic Spectrum from Leigh/Leigh‐Like Syndrome to Isolated Optic Atrophy(2021)16 cited
- → 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(2020)10 cited
- → Opportunities for the new generation: the formation of a networking group(2003)2 cited
- Guides: Archives and Special Collections: University Publications(2014)
- → Genetic investigations in neuromuscular diseases(2024)
- Evaluation of a diagnostic service for haemophilia A incorporating the LightScanner high resolution melt analysis system(2009)