mt <scp>DNA</scp> heteroplasmy level and copy number indicate disease burden in m.3243A>G mitochondrial disease
2018 · EMBO Molecular Medicine · 277 citations
https://doi.org/10.15252/emmm.201708262
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Steven Hardy
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Steven Hardy is an academic researcher from National Cancer Registration Service. The author has contributed to research in topics: Mitochondrial Function and Pathology & Metabolism and Genetic Disorders & RNA modifications and cancer. The author has an h-index of 21, co-authored 57 publications.
ORCID: 0000-0002-7527-8512Papers by this author
worksMutations in APOPT1, Encoding a Mitochondrial Protein, Cause Cavitating Leukoencephalopathy with Cytochrome c Oxidase Deficiency
2014 · The American Journal of Human Genetics · 76 citations
https://doi.org/10.1016/j.ajhg.2014.08.003
Pathogenic mitochondrial mt-tRNAAla variants are uniquely associated with isolated myopathy
2015 · European Journal of Human Genetics · 27 citations
https://doi.org/10.1038/ejhg.2015.73
The English National Lynch Syndrome transformation project: an NHS Genomic Medicine Service Alliance (GMSA) programme
2023 · BMJ Oncology · 27 citations
https://doi.org/10.1136/bmjonc-2023-000124
Risks of second primary cancers among 584,965 female and male breast cancer survivors in England: a 25-year retrospective cohort study
2024 · The Lancet Regional Health - Europe · 21 citations
https://doi.org/10.1016/j.lanepe.2024.100903
Second Primary Cancer Risks After Breast Cancer in <i>BRCA1</i> and <i>BRCA2</i> Pathogenic Variant Carriers
2024 · Journal of Clinical Oncology · 20 citations
https://doi.org/10.1200/jco.24.01146
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