Tom Vale

Whole-genome sequencing of patients with rare diseases in a national health system

Ernest Turro, Karyn Mégy, Olga Shamardina et al. · Nature · 2020 · 582 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Germline selection shapes human mitochondrial DNA diversity

Wei Wei, Salih Tuna, Michael J. Keogh et al. · Science · 2019 · 251 citations · Full text

Medicine, Genetics, Molecular Genetics +15

Whole-genome sequencing of a sporadic primary immunodeficiency cohort

James Thaventhiran, Hana Lango Allen, Oliver S. Burren et al. · Nature · 2020 · 242 citations · Full text

Life Sciences, Immunology, Molecular Genetics +13

Telomerecat: A ploidy-agnostic method for estimating telomere length from whole genome sequencing data

James H. R. Farmery, Mike L. Smith, Aarnoud Huissoon et al. · Scientific Reports · 2018 · 90 citations · Full text

Life Sciences, Cell Biology, Genetics +11

Chronic non-freezing cold injury results in neuropathic pain due to a sensory neuropathy

Tom Vale, Mkael Symmonds, Michael Polydefkis et al. · Brain · 2017 · 64 citations · Full text

Medicine, Neurology, Neuromuscular Disorders +15