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Kate L Thomson

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Journal of Muscle Research and Cell Motility|November 10, 2017
When signalling goes wrong: pathogenic variants in structural and signalling proteins causing cardiomyopathiesMehroz Ehsan, He Jiang, Kate L Thomson, et al.
European Journal of Human Genetics : EJHG|June 13, 2019
Do health professionals value genomic testing? A discrete choice experiment in inherited cardiovascular diseaseJames Buchanan, Edward Blair, Kate L Thomson, et al.
European Journal of Human Genetics : EJHG|July 21, 2020
Secondary findings in inherited heart conditions: a genotype-first feasibility study to assess phenotype, behavioural and psychosocial outcomesElizabeth Ormondroyd, Andrew R Harper, Kate L Thomson, et al.
American Journal of Human Genetics|June 10, 2022
A calibrated functional patch-clamp assay to enhance clinical variant interpretation in KCNH2-related long QT syndromeConnie Jiang, Ebony Richardson, Jessica Farr, et al.
European Journal of Human Genetics : EJHG|July 13, 2023
EMQN: Recommendations for genetic testing in inherited cardiomyopathies and arrhythmiasJesse B Hayesmoore, Zahurul A Bhuiyan, Domenico A Coviello, et al.
HGG Advances|January 14, 2024
Clinical interpretation of KCNH2 variants using a robust PS3/BS3 functional patch-clamp assayKate L Thomson, Connie Jiang, Ebony Richardson, et al.
Nature Genetics|January 26, 2021
Common genetic variants and modifiable risk factors underpin hypertrophic cardiomyopathy susceptibility and expressivityAndrew R Harper, Anuj Goel, Christopher Grace, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 18, 2016
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samplesRoddy Walsh, Kate L Thomson, James S Ware, et al.
European Heart Journal|January 14, 2017
Defining the genetic architecture of hypertrophic cardiomyopathy: re-evaluating the role of non-sarcomeric genesRoddy Walsh, Rachel Buchan, Alicja Wilk, et al.
Genome Medicine|July 27, 2019
Implementation of a genomic medicine multi-disciplinary team approach for rare disease in the clinical setting: a prospective exome sequencing case seriesJohn Taylor, Jude Craft, Edward Blair, et al.
Pageof 3

Showing results (1-10 of 21) with videos related to

Sort By:
Pageof 3
Journal of Muscle Research and Cell Motility|November 10, 2017
When signalling goes wrong: pathogenic variants in structural and signalling proteins causing cardiomyopathiesMehroz Ehsan, He Jiang, Kate L Thomson, et al.
European Journal of Human Genetics : EJHG|June 13, 2019
Do health professionals value genomic testing? A discrete choice experiment in inherited cardiovascular diseaseJames Buchanan, Edward Blair, Kate L Thomson, et al.
European Journal of Human Genetics : EJHG|July 21, 2020
Secondary findings in inherited heart conditions: a genotype-first feasibility study to assess phenotype, behavioural and psychosocial outcomesElizabeth Ormondroyd, Andrew R Harper, Kate L Thomson, et al.
American Journal of Human Genetics|June 10, 2022
A calibrated functional patch-clamp assay to enhance clinical variant interpretation in KCNH2-related long QT syndromeConnie Jiang, Ebony Richardson, Jessica Farr, et al.
European Journal of Human Genetics : EJHG|July 13, 2023
EMQN: Recommendations for genetic testing in inherited cardiomyopathies and arrhythmiasJesse B Hayesmoore, Zahurul A Bhuiyan, Domenico A Coviello, et al.
HGG Advances|January 14, 2024
Clinical interpretation of KCNH2 variants using a robust PS3/BS3 functional patch-clamp assayKate L Thomson, Connie Jiang, Ebony Richardson, et al.
Nature Genetics|January 26, 2021
Common genetic variants and modifiable risk factors underpin hypertrophic cardiomyopathy susceptibility and expressivityAndrew R Harper, Anuj Goel, Christopher Grace, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 18, 2016
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samplesRoddy Walsh, Kate L Thomson, James S Ware, et al.
European Heart Journal|January 14, 2017
Defining the genetic architecture of hypertrophic cardiomyopathy: re-evaluating the role of non-sarcomeric genesRoddy Walsh, Rachel Buchan, Alicja Wilk, et al.
Genome Medicine|July 27, 2019
Implementation of a genomic medicine multi-disciplinary team approach for rare disease in the clinical setting: a prospective exome sequencing case seriesJohn Taylor, Jude Craft, Edward Blair, et al.
Pageof 3