Gillian Rea
Belfast, NIR, United Kingdom
Last Updated: 09/26/2026
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Found 15 publications
What is risk in clinical genetics? Designing and piloting tools to evaluate risk in clinical genetics using failure modes and effects analysis.
Journal: European journal of human genetics : EJHG
Published: June 09, 2025
Joint ABS-UKCGG-CanGene-CanVar consensus regarding the use of CanRisk in clinical practice.
Journal: British journal of cancer
Published: March 06, 2024
Assessing the association between genetic and phenotypic features of dilated cardiomyopathy and outcome in patients with coronary artery disease.
Journal: European journal of heart failure
Published: December 16, 2022
A Formative Study of the Implementation of Whole Genome Sequencing in Northern Ireland.
Journal: Genes
Published: May 16, 2022
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
Infantile Onset of Spinocerebellar Ataxia Type 5 (SCA-5) in a 6 Month Old with Ataxic Cerebral Palsy.
Journal: Cerebellum (London, England)
Published: November 14, 2019
MYORG-related disease is associated with central pontine calcifications and atypical parkinsonism.
Journal: Neurology. Genetics
Published: September 16, 2019
Null variants and deletions in BRWD3 cause an X-linked syndrome of mild-moderate intellectual disability, macrocephaly, and obesity: A series of 17 patients.
Journal: American journal of medical genetics. Part C, Seminars in medical genetics
Published: June 23, 2019
Unilateral leg swelling in an infant.
Journal: Archives of disease in childhood. Education and practice edition
Published: May 16, 2018
Last Updated: 09/26/2026