Sue Hill

The 100 000 Genomes Project: bringing whole genome sequencing to the NHS

Clare Turnbull, Richard H. Scott, Ellen Thomas et al. · BMJ · 2018 · 477 citations

Life Sciences, Genetics, Molecular Genetics +9

Integrating Genomics into Healthcare: A Global Responsibility

Zornitza Stark, Lena Dolman, Teri A. Manolio et al. · The American Journal of Human Genetics · 2019 · 395 citations · Full text

Life Sciences, Health Policy, Genomics +10

Opportunities to diagnose chronic obstructive pulmonary disease in routine care in the UK: a retrospective study of a clinical cohort

Rupert Jones, David Price, Dermot Ryan et al. · The Lancet Respiratory Medicine · 2014 · 197 citations · Full text

Medicine, Family Medicine, Case Finding +14

Insights for precision oncology from the integration of genomic and clinical data of 13,880 tumors from the 100,000 Genomes Cancer Programme

Alona Sosinsky, John C. Ambrose, William Cross et al. · Nature Medicine · 2024 · 178 citations · Full text

Life Sciences, Genetics, Oncology +17

Whole genome sequencing for the diagnosis of neurological repeat expansion disorders in the UK: a retrospective diagnostic accuracy and prospective clinical validation study

Kristina Ibáñez, James M. Polke, R. Tanner Hagelstrom et al. · UCL Discovery (University College London) · 2022 · 140 citations

Life Sciences, Genetics, Molecular Genetics +17