about
Hypomorphic function and somatic reversion of DOCK8 cause combined immunodeficiency without hyper-IgECombination 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.Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.DNA testing for hypertrophic cardiomyopathy: a cost-effectiveness model.Defining the genetic architecture of hypertrophic cardiomyopathy: re-evaluating the role of non-sarcomeric genes.Adaptation and validation of the ACMG/AMP variant classification framework for MYH7-associated inherited cardiomyopathies: recommendations by ClinGen's Inherited Cardiomyopathy Expert Panel.Early onset cardiomyopathy in females with Danon disease.Identification of 21 novel glucokinase (GCK) mutations in UK and European Caucasians with maturity-onset diabetes of the young (MODY)Using High-Resolution Variant Frequencies Empowers Clinical Genome Interpretation and Enables Investigation of Genetic ArchitectureQuantitative approaches to variant classification increase the yield and precision of genetic testing in Mendelian diseases: the case of hypertrophic cardiomyopathyAnalysis of 51 proposed hypertrophic cardiomyopathy genes from genome sequencing data in sarcomere negative cases has negligible diagnostic yieldEvaluating the Clinical Validity of Hypertrophic Cardiomyopathy GenesImplementation of a genomic medicine multi-disciplinary team approach for rare disease in the clinical setting: a prospective exome sequencing case seriesDo health professionals value genomic testing? A discrete choice experiment in inherited cardiovascular disease
P50
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P50
description
onderzoeker
@nl
researcher ORCID ID = 0000-0003-2807-3431
@en
name
Kate Thomson
@ast
Kate Thomson
@en
Kate Thomson
@es
Kate Thomson
@nl
type
label
Kate Thomson
@ast
Kate Thomson
@en
Kate Thomson
@es
Kate Thomson
@nl
prefLabel
Kate Thomson
@ast
Kate Thomson
@en
Kate Thomson
@es
Kate Thomson
@nl
P106
P21
P31
P496
0000-0003-2807-3431