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Kate L Thomson

Showing results (11-20 of 21) with videos related to

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Circulation. Genomic and Precision Medicine|March 13, 2020
Reevaluation of the South Asian <i>MYBPC3</i><sup>Δ25bp</sup> Intronic Deletion in Hypertrophic CardiomyopathyAndrew R Harper, Michael Bowman, Jesse B G Hayesmoore, et al.
Circulation. Cardiovascular Genetics|September 15, 2016
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 NoncompactionRobert Hastings, Carin P de Villiers, Charlotte Hooper, et al.
Human Mutation|June 10, 2020
An assessment of the role of vinculin loss of function variants in inherited cardiomyopathyMegan H Hawley, Naif Almontashiri, Leslie G Biesecker, et al.
Circulation. Genomic and Precision Medicine|July 2, 2024
Multisite Validation of a Functional Assay to Adjudicate <i>SCN5A</i> Brugada Syndrome-Associated VariantsJoanne G Ma, Matthew J O'Neill, Ebony Richardson, et al.
Medrxiv : the Preprint Server for Health Sciences|January 10, 2024
Multi-site validation of a functional assay to adjudicate <i>SCN5A</i> Brugada Syndrome-associated variantsJoanne G Ma, Matthew J O'Neill, Ebony Richardson, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 12, 2018
Analysis of 51 proposed hypertrophic cardiomyopathy genes from genome sequencing data in sarcomere negative cases has negligible diagnostic yieldKate L Thomson, Elizabeth Ormondroyd, Andrew R Harper, et al.
Genome Medicine|January 31, 2019
Quantitative approaches to variant classification increase the yield and precision of genetic testing in Mendelian diseases: the case of hypertrophic cardiomyopathyRoddy Walsh, Francesco Mazzarotto, Nicola Whiffin, et al.
The Journal of Molecular Diagnostics : JMD|February 25, 2021
Harmonizing the Collection of Clinical Data on Genetic Testing Requisition Forms to Enhance Variant Interpretation in Hypertrophic Cardiomyopathy (HCM): A Study from the ClinGen Cardiomyopathy Variant Curation Expert PanelAna Morales, Alexander Ing, Christian Antolik, et al.
Circulation|January 28, 2020
Reevaluating the Genetic Contribution of Monogenic Dilated CardiomyopathyFrancesco Mazzarotto, Upasana Tayal, Rachel J Buchan, et al.
Medrxiv : the Preprint Server for Health Sciences|February 13, 2023
Large scale genome-wide association analyses identify novel genetic loci and mechanisms in hypertrophic cardiomyopathyRafik Tadros, Sean L Zheng, Christopher Grace, et al.
Pageof 3

Showing results (11-20 of 21) with videos related to

Sort By:
Pageof 3
Circulation. Genomic and Precision Medicine|March 13, 2020
Reevaluation of the South Asian <i>MYBPC3</i><sup>Δ25bp</sup> Intronic Deletion in Hypertrophic CardiomyopathyAndrew R Harper, Michael Bowman, Jesse B G Hayesmoore, et al.
Circulation. Cardiovascular Genetics|September 15, 2016
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 NoncompactionRobert Hastings, Carin P de Villiers, Charlotte Hooper, et al.
Human Mutation|June 10, 2020
An assessment of the role of vinculin loss of function variants in inherited cardiomyopathyMegan H Hawley, Naif Almontashiri, Leslie G Biesecker, et al.
Circulation. Genomic and Precision Medicine|July 2, 2024
Multisite Validation of a Functional Assay to Adjudicate <i>SCN5A</i> Brugada Syndrome-Associated VariantsJoanne G Ma, Matthew J O'Neill, Ebony Richardson, et al.
Medrxiv : the Preprint Server for Health Sciences|January 10, 2024
Multi-site validation of a functional assay to adjudicate <i>SCN5A</i> Brugada Syndrome-associated variantsJoanne G Ma, Matthew J O'Neill, Ebony Richardson, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 12, 2018
Analysis of 51 proposed hypertrophic cardiomyopathy genes from genome sequencing data in sarcomere negative cases has negligible diagnostic yieldKate L Thomson, Elizabeth Ormondroyd, Andrew R Harper, et al.
Genome Medicine|January 31, 2019
Quantitative approaches to variant classification increase the yield and precision of genetic testing in Mendelian diseases: the case of hypertrophic cardiomyopathyRoddy Walsh, Francesco Mazzarotto, Nicola Whiffin, et al.
The Journal of Molecular Diagnostics : JMD|February 25, 2021
Harmonizing the Collection of Clinical Data on Genetic Testing Requisition Forms to Enhance Variant Interpretation in Hypertrophic Cardiomyopathy (HCM): A Study from the ClinGen Cardiomyopathy Variant Curation Expert PanelAna Morales, Alexander Ing, Christian Antolik, et al.
Circulation|January 28, 2020
Reevaluating the Genetic Contribution of Monogenic Dilated CardiomyopathyFrancesco Mazzarotto, Upasana Tayal, Rachel J Buchan, et al.
Medrxiv : the Preprint Server for Health Sciences|February 13, 2023
Large scale genome-wide association analyses identify novel genetic loci and mechanisms in hypertrophic cardiomyopathyRafik Tadros, Sean L Zheng, Christopher Grace, et al.
Pageof 3