Stephanie Greville‐Heygate

Germline BRCA mutation and outcome in young-onset breast cancer (POSH): a prospective cohort study

Ellen Copson, Tom Maishman, William Tapper et al. · The Lancet Oncology · 2018 · 495 citations · Full text

Medicine, Genetics, Oncology +7

Opposite Modulation of RAC1 by Mutations in TRIO Is Associated with Distinct, Domain-Specific Neurodevelopmental Disorders

Sónia Barbosa, Stephanie Greville‐Heygate, Maxime Bonnet et al. · The American Journal of Human Genetics · 2020 · 111 citations · Full text

Life Sciences, Genetics, Neuroscience +17

Mutations specific to the Rac-GEF domain of <i>TRIO</i> cause intellectual disability and microcephaly

Reuben J. Pengelly, Stephanie Greville‐Heygate, Susanne Schmidt et al. · Journal of Medical Genetics · 2016 · 86 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Clinical delineation of the <i>PACS1</i>‐related syndrome—Report on 19 patients

Janneke Schuurs-Hoeijmakers, Megan Landsverk, Nicola Foulds et al. · American Journal of Medical Genetics Part A · 2016 · 59 citations · Full text

Medicine, Genetics, Pediatrics +16

Towards controlled terminology for reporting germline cancer susceptibility variants: an ENIGMA report

Amanda B. Spurdle, Stephanie Greville‐Heygate, Antonis C. Antoniou et al. · Journal of Medical Genetics · 2019 · 56 citations · Full text

Life Sciences, Genetics, Oncology +15