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Karen McGuire

Observed names: K. McGuire, Karen J. McGuire
OpenAlex ID: A5043669881
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples
2016 · Roddy Walsh, Kate L. Thomson, et al. · Genetics in Medicine · 733
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Analysis of 51 proposed hypertrophic cardiomyopathy genes from genome sequencing data in sarcomere negative cases has negligible diagnostic yield
2018 · Kate L. Thomson, Elizabeth Ormondroyd, et al. · Genetics in Medicine · 62
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Reevaluation of the South Asian MYBPC3 Δ25bp Intronic Deletion in Hypertrophic Cardiomyopathy
2020 · Andrew R. Harper, Michael Bowman, et al. · Circulation Genomic and Precision Medicine · 42
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A multicentre study of patients with Timothy syndrome
2017 · Mark A Walsh, Christian Turner, et al. · EP Europace · 29
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From Genotype to Phenotype
2018 · Michael Mackley, Karen McGuire, et al. · Circulation Genomic and Precision Medicine · 12
A rare splice-site variant in TNNT2: the need for ancestral diversity in genomic reference data sets
2025 · Alexandra Butters, Kate Thomson, et al. · European Heart Journal · 6
A rare splice-site variant in cardiac troponin-T ( TNNT2) : The need for ancestral diversity in genomic reference datasets
2024 · Alexandra Butters, Kate Thomson, et al. · medRxiv · 3
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A Rare Splice-Site Variant in Cardiac Troponin-T (TNNT2): The Need for Ancestral Diversity in Genomic Reference Datasets
2024 · A. Butters, K. Thomson, et al. · Heart Lung and Circulation · 1
Homozygous gene deletion of KCNE1 resulting in Jervell and Lange-Nielsen Syndrome
2010 · Melanie Proven, Karen McGuire, et al. · Journal of Medical Genetics
An assessment of the clinical sensitivity of molecular genetic testing in Hypertrophic Cardiomyopathy (HCM)
2008 · Kate Thomson, J Thistleton, et al. · Journal of Medical Genetics
Frequency and significance of compound and double heterozygotes in a cohort of patients with Hypertrophic Cardiomyopathy
2008 · J Thistleton, Kate Thomson, et al. · Journal of Medical Genetics
Works count: 11
Citation count: 889
H-index: 6
I10-index: 5
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