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List of works by Kate Thomson

Adaptation and validation of the ACMG/AMP variant classification framework for MYH7-associated inherited cardiomyopathies: recommendations by ClinGen's Inherited Cardiomyopathy Expert Panel

scientific article published on 4 January 2018

Analysis of 51 proposed hypertrophic cardiomyopathy genes from genome sequencing data in sarcomere negative cases has negligible diagnostic yield

article

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.

scientific article published on 13 September 2016

DNA testing for hypertrophic cardiomyopathy: a cost-effectiveness model

scientific article published on 18 March 2010

Defining the genetic architecture of hypertrophic cardiomyopathy: re-evaluating the role of non-sarcomeric genes.

scientific article published on 11 January 2017

Do health professionals value genomic testing? A discrete choice experiment in inherited cardiovascular disease

scientific article published on 11 June 2019

Early onset cardiomyopathy in females with Danon disease.

scientific article published on 16 March 2015

Evaluating the Clinical Validity of Hypertrophic Cardiomyopathy Genes

article

Harmonizing the Collection of Clinical Data on Genetic Testing Requisition Forms to Enhance Variant Interpretation in Hypertrophic Cardiomyopathy (HCM)

scientific article published in May 2021

Hypomorphic function and somatic reversion of DOCK8 cause combined immunodeficiency without hyper-IgE

scientific article published on 8 December 2015

Identification of 21 novel glucokinase (GCK) mutations in UK and European Caucasians with maturity-onset diabetes of the young (MODY)

scientific article published on 01 November 2003

Implementation of a genomic medicine multi-disciplinary team approach for rare disease in the clinical setting: a prospective exome sequencing case series

scientific article published on 25 July 2019

Quantitative approaches to variant classification increase the yield and precision of genetic testing in Mendelian diseases: the case of hypertrophic cardiomyopathy

scientific article published on 29 January 2019

Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.

scientific article published on 17 August 2016

Using High-Resolution Variant Frequencies Empowers Clinical Genome Interpretation and Enables Investigation of Genetic Architecture

scientific article published on 01 January 2019

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