Publications by authors named "Gillian Rea"

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What is risk in clinical genetics? Designing and piloting tools to evaluate risk in clinical genetics using failure modes and effects analysis.
Deborah M Lambert, Helen Stewart, Mari Bandiola, Marta Bertoli, Dearbhla Butterly, Gillian Rea, Ioana Streata

Eur J Hum Genet· October 2025

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Recurrent herpes labialis in a patient with interferon regulatory factor 3 deletion: a novel case report.
Nawab Ali, Caoimhe McKenna, June Jones, Louise Rauch, Lynne Speirs, Gillian Rea

Clin Dysmorphol· September 2025

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Joint ABS-UKCGG-CanGene-CanVar consensus regarding the use of CanRisk in clinical practice.
Olga Tsoulaki, Marc Tischkowitz, Antonis C Antoniou, Hannah Musgrave, Gillian Rea

Br J Cancer· June 2024

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Assessing the association between genetic and phenotypic features of dilated cardiomyopathy and outcome in patients with coronary artery disease.
Richard E Jones, Daniel J Hammersley, Sean Zheng, Kathryn A McGurk, Antonio de Marvao, Gillian Rea

Eur J Heart Fail· January 2024

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UK recommendations for the management of transgender and gender-diverse patients with inherited cancer risks.
Josephine Giblin, Beth Coad, Catherine Lamb, Cheryl Berlin, Gillian Rea

BJC Rep· June 2023

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Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition.
Elizabeth E Palmer, Michael Pusch, Alessandra Picollo, Caitlin Forwood, Matthew H Nguyen, Gillian Rea

Mol Psychiatry· February 2023

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A Formative Study of the Implementation of Whole Genome Sequencing in Northern Ireland.
Katie Kerr, Caoimhe McKenna, Shirley Heggarty, Caitlin Bailie, Julie McMullan, Gillian Rea

Genes (Basel)· June 2022

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Heterozygous lamin B1 and lamin B2 variants cause primary microcephaly and define a novel laminopathy.
David A Parry, Carol-Anne Martin, Philip Greene, Joseph A Marsh, , Gillian Rea

Genet Med· February 2021

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Unilateral leg swelling in an infant.
Shilpa Shah, Sarah Berry, Laura Bingham, Gillian Rea

Arch Dis Child Educ Pract Ed· April 2020

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-related disease is associated with central pontine calcifications and atypical parkinsonism.
Viorica Chelban, Miryam Carecchio, Gillian Rea, Abdalla Bowirrat, Salman Kirmani

Neurol Genet· April 2020

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Infantile Onset of Spinocerebellar Ataxia Type 5 (SCA-5) in a 6 Month Old with Ataxic Cerebral Palsy.
Gillian Rea, Sandya Tirupathi, Jonathan Williams, Penny Clouston, Patrick J Morrison

Cerebellum· February 2020

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Null variants and deletions in BRWD3 cause an X-linked syndrome of mild-moderate intellectual disability, macrocephaly, and obesity: A series of 17 patients.
Philip J Ostrowski, Anna Zachariou, Chey Loveday, Diana Baralle, Edward Blair, Gillian Rea

Am J Med Genet C Semin Med Genet· December 2019

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Histiocytoid cardiomyopathy and microphthalmia with linear skin defects syndrome: phenotypes linked by truncating variants in .
Gillian Rea, Tessa Homfray, Jan Till, Ferran Roses-Noguer, Rachel J Buchan

Cold Spring Harb Mol Case Stud· January 2017

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Globodontia in the Otodental Syndrome: A Rare Defect of Tooth Morphology Occurring with Hearing Loss in an Eight-Year-Old.
Sinead Enright, A Karen Humphrys, Gillian Rea, Jacqueline A James

Dent Update· December 2015

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A silent nucleotide substitution in the ATP7A gene in a child with Menkes disease.
Lisbeth Birk Møller, Gillian Rea, Saiqa Yasmeen, Tina Skjørringe, Sidsel Salling Thorborg

Mol Genet Metab· December 2013

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Genetic biomarkers in aortopathy.
Gillian Rea, Fiona J Stewart

Biomark Med· August 2013

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Subcortical white matter abnormalities because of previously undescribed de-novo 14q12-q13.1 triplication.
Gillian Rea, Ray L Stallings, Marice Mullarkey, C Steven McKinstry, David McManus

Clin Dysmorphol· April 2013

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Streamlining the use of IHC in identifying germline mismatch repair mutations in Lynch syndrome.
Gillian Rea, Alex Magee, Maurice B Loughrey

Ulster Med J· May 2012

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Delineation of a recognisable phenotype of interstitial deletion 3 (q22.3q25.1) in a case with previously unreported truncus arteriosus.
Gillian Rea, Simon McCullough, Susan McNerlan, Brian Craig, Patrick J Morrison

Eur J Med Genet· October 2010

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