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Kate L. Thomson

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 · 734
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Whole-genome sequencing of patients with rare diseases in a national health system
2020 · Ernest Turro, William J. Astle, et al. · Nature · 570
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Evaluating the Clinical Validity of Hypertrophic Cardiomyopathy Genes
2019 · Jodie Ingles, Jennifer Goldstein, et al. · Circulation Genomic and Precision Medicine · 432
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Adaptation and validation of the ACMG/AMP variant classification framework for MYH7-associated inherited cardiomyopathies: recommendations by ClinGen’s Inherited Cardiomyopathy Expert Panel
2018 · Melissa A. Kelly, Colleen Caleshu, et al. · Genetics in Medicine · 364
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Common genetic variants and modifiable risk factors underpin hypertrophic cardiomyopathy susceptibility and expressivity
2021 · Andrew R. Harper, Anuj Goel, et al. · Nature Genetics · 337
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Distinct Subgroups in Hypertrophic Cardiomyopathy in the NHLBI HCM Registry
2019 · Stefan Neubauer, Paul Kolm, et al. · Journal of the American College of Cardiology · 329
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Reevaluating the Genetic Contribution of Monogenic Dilated Cardiomyopathy
2020 · Francesco Mazzarotto, Upasana Tayal, et al. · Circulation · 257
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Whole-genome sequencing of a sporadic primary immunodeficiency cohort
2020 · James E. D. Thaventhiran, Hana Lango Allen, et al. · Nature · 240
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Defining the genetic architecture of hypertrophic cardiomyopathy: re-evaluating the role of non-sarcomeric genes
2016 · Roddy Walsh, Rachel Buchan, et al. · European Heart Journal · 202
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DNA testing for hypertrophic cardiomyopathy: a cost-effectiveness model
2010 · S. Wordsworth, J. Leal, et al. · European Heart Journal · 157
Quantitative approaches to variant classification increase the yield and precision of genetic testing in Mendelian diseases: the case of hypertrophic cardiomyopathy
2019 · Roddy Walsh, Francesco Mazzarotto, et al. · Genome Medicine · 120
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Combination of Whole Genome Sequencing, Linkage, and Functional Studies Implicates a Missense Mutation in Titin as a Cause of Autosomal Dominant Cardiomyopathy With Features of Left Ventricular Noncompaction
2016 · Robert Hastings, Carin P. de Villiers, et al. · Circulation Cardiovascular Genetics · 82
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Large-scale genome-wide association analyses identify novel genetic loci and mechanisms in hypertrophic cardiomyopathy
2025 · Rafik Tadros, Sean L. Zheng, et al. · Nature Genetics · 72
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The penetrance of rare variants in cardiomyopathy-associated genes: A cross-sectional approach to estimating penetrance for secondary findings
2023 · Kathryn A. McGurk, Xiaolei Zhang, et al. · The American Journal of Human Genetics · 69
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Identification of 21 novel glucokinase (GCK) mutations in UK and European Caucasians with maturity-onset diabetes of the young (MODY)
2003 · K.L. Thomson, A.L. Gloyn, et al. · Human Mutation · 63
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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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Genetic Testing in Inherited Heart Diseases
2019 · Jodie Ingles, Ivan Macciocca, et al. · Heart Lung and Circulation · 58
Bayesian Inference Associates Rare KDR Variants With Specific Phenotypes in Pulmonary Arterial Hypertension
2020 · Emilia M. Swietlik, Daniel Greene, et al. · Circulation Genomic and Precision Medicine · 49
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GWAS meta-analysis of intrahepatic cholestasis of pregnancy implicates multiple hepatic genes and regulatory elements
2022 · Peter H. Dixon, Adam P. Levine, et al. · Nature Communications · 48
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Incremental value of left atrial booster and reservoir strain in predicting atrial fibrillation in patients with hypertrophic cardiomyopathy: a cardiovascular magnetic resonance study
2021 · Betty Raman, Robert W. Smillie, et al. · Journal of Cardiovascular Magnetic Resonance · 48
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Early onset cardiomyopathy in females with Danon disease
2015 · Carola Hedberg Oldfors, Gyöngyvér Máthé, et al. · Neuromuscular Disorders · 45
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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Implementation of a genomic medicine multi-disciplinary team approach for rare disease in the clinical setting: a prospective exome sequencing case series
2019 · John Taylor, Jude Craft, et al. · Genome Medicine · 42
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A calibrated functional patch-clamp assay to enhance clinical variant interpretation in KCNH2-related long QT syndrome
2022 · Connie Jiang, Ebony Richardson, et al. · The American Journal of Human Genetics · 35
EMQN: Recommendations for genetic testing in inherited cardiomyopathies and arrhythmias
2023 · Jesse B. Hayesmoore, Zahurul A. Bhuiyan, et al. · European Journal of Human Genetics · 28
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Works count: 84
Citation count: 4,761
H-index: 25
I10-index: 38
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