Concepedia
Statistics
Publications
9
Citations
897
H-Index
Active since
2016
Affiliations
University of Southampton(Current)
University Hospital Southampton NHS Foundation Trust
University of Cambridge
Cambridge University Hospitals NHS Foundation Trust
Sheffield Children's NHS Foundation Trust
Stephanie Greville‐Heygate is an author at University of Southampton specializing in medicine, pathology, and neuropathology.
Top concepts
MedicinePathologyGeneticsOncologyPediatricsBreast CancerDown SyndromePublic HealthNeuropathologyOvarian Cancer
Publications per year
2016–2021
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 · 484 citations · Full text
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 · 105 citations · Full text
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 · 85 citations · Full text
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 · 58 citations
Neurodevelopmental Disorders, Down Syndrome, Developmental Anomaly +12
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 · 54 citations · Full text
Genetics, Genetic Epidemiology, Pathology +16
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