Stephanie L. Heygate-Greville
Southampton, ENG, United Kingdom
Last Updated: 09/26/2026
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 9 publications
Heterozygous lamin B1 and lamin B2 variants cause primary microcephaly and define a novel laminopathy.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: June 29, 2020
Pathogenic Variants in CHEK2 Are Associated With an Adverse Prognosis in Symptomatic Early-Onset Breast Cancer.
Journal: JCO precision oncology
Published: March 03, 2020
Opposite Modulation of RAC1 by Mutations in TRIO Is Associated with Distinct, Domain-Specific Neurodevelopmental Disorders.
Journal: American journal of human genetics
Published: October 11, 2019
Multifocal breast cancers are more prevalent in BRCA2 versus BRCA1 mutation carriers.
Journal: The journal of pathology. Clinical research
Published: September 03, 2019
Towards controlled terminology for reporting germline cancer susceptibility variants: an ENIGMA report.
Journal: Journal of medical genetics
Published: November 13, 2018
Hereditary Breast and Ovarian Cancer Testing in the Genomic Era.
Journal: JAMA oncology
Published: August 22, 2018
Germline BRCA mutation and outcome in young-onset breast cancer (POSH): a prospective cohort study.
Journal: The Lancet. Oncology
Published: September 22, 2017
Mutations specific to the Rac-GEF domain of TRIO cause intellectual disability and microcephaly.
Journal: Journal of medical genetics
Published: May 16, 2016
Clinical delineation of the PACS1-related syndrome--Report on 19 patients.
Journal: American journal of medical genetics. Part A
Published: May 16, 2015
Showing 1-9 of 9
Last Updated: 09/26/2026