Researcher profile · Semantic Scholar

Gillian Rea

h-index: 7
Works: 19
Citations: 179

Most-cited papers

Heterozygous lamin B1 and lamin B2 variants cause primary microcephaly and define a novel laminopathy
David A. Parry, Carol-Anne Martin, P. Greene, J. Marsh +13 more
2020Genetics in Medicine47 citations Open access
Semantic Scholar
Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition
E. Palmer, M. Pusch, A. Picollo, C. Forwood +95 more
2022Molecular Psychiatry28 citations Open access
Semantic Scholar
Histiocytoid cardiomyopathy and microphthalmia with linear skin defects syndrome: phenotypes linked by truncating variants in NDUFB11
Gillian Rea, T. Homfray, J. Till, F. Rosés-Noguer +16 more
2016Cold Spring Harbor molecular case studies25 citations Open access
Semantic Scholar
MYORG-related disease is associated with central pontine calcifications and atypical parkinsonism
V. Chelban, M. Carecchio, Gillian Rea, A. Bowirrat +22 more
2020Neurology: Genetics20 citations Open access
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Infantile Onset of Spinocerebellar Ataxia Type 5 (SCA-5) in a 6 Month Old with Ataxic Cerebral Palsy
Gillian Rea, S. Tirupathi, Jonathan Williams, P. Clouston +1 more
2019Cerebellum12 citations Open access
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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
P. Ostrowski, Anna Zachariou, C. Loveday, D. Baralle +14 more
2019American Journal of Medical Genetics. Part C, Seminars in Medical Genetics10 citations Open access
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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, S. McCullough, S. Mcnerlan, B. Craig +1 more
2010European Journal of Medical Genetics9 citations
Semantic Scholar
Genetic biomarkers in aortopathy.
Gillian Rea, F. Stewart
2013Biomarkers in Medicine7 citations
Semantic Scholar
A silent nucleotide substitution in the ATP7A gene in a child with Menkes disease.
L. Møller, Gillian Rea, S. Yasmeen, Tina Skjørringe +3 more
2013Molecular Genetics and Metabolism6 citations
Semantic Scholar
UK recommendations for the management of transgender and gender-diverse patients with inherited cancer risks
Josephine Giblin, Bethany M. Coad, Catherine Lamb, C. Berlin +4 more
2023BJC Reports5 citations Open access
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A Formative Study of the Implementation of Whole Genome Sequencing in Northern Ireland
K. Kerr, C. McKenna, S. Heggarty, Caitlin Bailie +9 more
2022Genes4 citations Open access
Semantic Scholar
Globodontia in the Otodental Syndrome: A Rare Defect of Tooth Morphology Occurring with Hearing Loss in an Eight-Year-Old.
S. Enright, A. Karen Humphrys, Gillian Rea, J. James
2015Dental Update3 citations
Semantic Scholar
Subcortical white matter abnormalities because of previously undescribed de-novo 14q12-q13.1 triplication.
Gillian Rea, R. Stallings, M. Mullarkey, C. Mckinstry +2 more
2013Clinical Dysmorphology3 citations
Semantic Scholar
Unilateral leg swelling in an infant
Shilpa Shah, Sarah Berry, Laura Bingham, Gillian Rea
2018Archives of Disease in Childhood: Education & Practice Edition0 citations
Semantic Scholar
Titin resequencing and genetic discovery in human heart failure
Gillian Rea
20170 citations
Semantic Scholar
P35 Histiocytoid cardiomyopathy and microphthalmia with linear skin defects syndrome: Phenotypes linked by truncating variants in NDUFB11
Gillian Rea, J. Ware, T. Homfray, J. Till +15 more
2016Heart0 citations
Semantic Scholar
171 The genetic signature in ischaemic heart disease with myocardial infarction (MI) and significant left ventricular (LV) dysfunction
Gillian Rea, J. Petyrka, M. Vieira, R. Buchan +7 more
2015Heart0 citations
Semantic Scholar
13th Meeting of the Irish Society of Human Genetics
F. Stewart, J. E. Wraith, K. Tylee, A. H. Cooper +163 more
2010Ulster medical journal0 citations
Semantic Scholar
12th Annual Scientific Meeting of the Irish Society of Human Genetics, Friday 18th September 2009
Johanna Kelly, N. Coen, Lynn R. Barton, M. O'Dwyer +166 more
2010Ulster medical journal0 citations
Semantic Scholar

C. McKenna

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R. Buchan×3

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R. Walsh×3

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M. Mullarkey×3