Whole-genome sequencing of patients with rare diseases in a national health system
2020 · Nature · 568 citations
https://doi.org/10.1038/s41586-020-2434-2
R
Ruth Casey
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Ruth Casey is an academic researcher from Cambridge University Hospitals NHS Foundation Trust. The author has contributed to research in topics: Adrenal and Paraganglionic Tumors & Pituitary Gland Disorders and Treatments & Cancer, Hypoxia, and Metabolism. The author has an h-index of 29, co-authored 118 publications.
ORCID: 0000-0003-4058-3135Papers by this author
worksGermline selection shapes human mitochondrial DNA diversity
2019 · Science · 247 citations
https://doi.org/10.1126/science.aau6520
Clinical consensus guideline on the management of phaeochromocytoma and paraganglioma in patients harbouring germline SDHD pathogenic variants
2023 · The Lancet Diabetes & Endocrinology · 78 citations
https://doi.org/10.1016/s2213-8587(23)00038-4
Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor Phenotypes
2018 · The American Journal of Human Genetics · 72 citations
https://doi.org/10.1016/j.ajhg.2018.04.013
Succinate dehydrogenase and MYC-associated factor X mutations in pituitary neuroendocrine tumours
2022 · Endocrine Related Cancer · 21 citations
https://doi.org/10.1530/erc-22-0157
The emerging role of cell surface receptor and protein binding radiopharmaceuticals in cancer diagnostics and therapy
2020 · Nuclear Medicine and Biology · 15 citations
https://doi.org/10.1016/j.nucmedbio.2020.06.005
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