Katie Snape

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 mutations in RAD51D confer susceptibility to ovarian cancer

Chey Loveday, Clare Turnbull, Emma Ramsay et al. · Nature Genetics · 2011 · 537 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Mutational spectrum in a worldwide study of 29,700 families with<i>BRCA1</i>or<i>BRCA2</i>mutations

Timothy R. Rebbeck, Tara M. Friebel, Eitan Friedman et al. · Human Mutation · 2018 · 314 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Mosaic PPM1D mutations are associated with predisposition to breast and ovarian cancer

Elise Ruark, Katie Snape, Peter Humburg et al. · Nature · 2012 · 257 citations · Full text

Medicine, Genetics, Oncology +14

Tumour risks and genotype–phenotype correlations associated with germline variants in succinate dehydrogenase subunit genes <i>SDHB</i>, <i>SDHC</i> and <i>SDHD</i>

Katrina Andrews, David B. Ascher, Douglas E. V. Pires et al. · Journal of Medical Genetics · 2018 · 251 citations · Full text

Life Sciences, Genetics, Oncology +17