User profiles for Pantazis Theotokis
Pantazis TheotokisImperial College London Verified email at imperial.ac.uk Cited by 460 |
Pathogenic variants damage cell composition and single cell transcription in cardiomyopathies
…, F Shahriaran, C Yapp, C Stanasiuk, PI Theotokis… - Science, 2022 - science.org
Pathogenic variants in genes that cause dilated cardiomyopathy (DCM) and arrhythmogenic
cardiomyopathy (ACM) convey high risks for the development of heart failure through …
cardiomyopathy (ACM) convey high risks for the development of heart failure through …
Genetic architecture of acute myocarditis and the overlap with inherited cardiomyopathy
AS Lota, MR Hazebroek, P Theotokis, R Wassall… - Circulation, 2022 - Am Heart Assoc
Background: Acute myocarditis is an inflammatory condition that may herald the onset of
dilated cardiomyopathy (DCM) or arrhythmogenic cardiomyopathy (ACM). We investigated the …
dilated cardiomyopathy (DCM) or arrhythmogenic cardiomyopathy (ACM). We investigated the …
Reevaluating the genetic contribution of monogenic dilated cardiomyopathy
Background: Dilated cardiomyopathy (DCM) is genetically heterogeneous, with >100
purported disease genes tested in clinical laboratories. However, many genes were originally …
purported disease genes tested in clinical laboratories. However, many genes were originally …
Phenotypic expression and outcomes in individuals with rare genetic variants of hypertrophic cardiomyopathy
…, U Tayal, C Francis, N Whiffin, PI Theotokis… - Journal of the American …, 2021 - jacc.org
Background Hypertrophic cardiomyopathy (HCM) is caused by rare variants in sarcomere-encoding
genes, but little is known about the clinical significance of these variants in the …
genes, but little is known about the clinical significance of these variants in the …
[HTML][HTML] Beyond gene-disease validity: capturing structured data on inheritance, allelic requirement, disease-relevant variant classes, and disease mechanism for …
KS Josephs, AM Roberts, P Theotokis, R Walsh… - Genome medicine, 2023 - Springer
Background As the availability of genomic testing grows, variant interpretation will increasingly
be performed by genomic generalists, rather than domain-specific experts. Demand is …
be performed by genomic generalists, rather than domain-specific experts. Demand is …
[HTML][HTML] Disease-specific variant pathogenicity prediction significantly improves variant interpretation in inherited cardiac conditions
Purpose Accurate discrimination of benign and pathogenic rare variation remains a priority
for clinical genome interpretation. State-of-the-art machine learning variant prioritization tools …
for clinical genome interpretation. State-of-the-art machine learning variant prioritization tools …
[PDF][PDF] The penetrance of rare variants in cardiomyopathy-associated genes: A cross-sectional approach to estimating penetrance for secondary findings
Understanding the penetrance of pathogenic variants identified as secondary findings (SFs)
is of paramount importance with the growing availability of genetic testing. We estimated …
is of paramount importance with the growing availability of genetic testing. We estimated …
Genotype-Phenotype Taxonomy of Hypertrophic Cardiomyopathy
…, CJ Pua, M Shah, M Jafari, P Theotokis… - Circulation: Genomic …, 2023 - Am Heart Assoc
BACKGROUND: Hypertrophic cardiomyopathy (HCM) is an important cause of sudden cardiac
death associated with heterogeneous phenotypes, but there is no systematic framework …
death associated with heterogeneous phenotypes, but there is no systematic framework …
Assessing the association between genetic and phenotypic features of dilated cardiomyopathy and outcome in patients with coronary artery disease
Aims To examine the relevance of genetic and cardiovascular magnetic resonance (CMR)
features of dilated cardiomyopathy (DCM) in individuals with coronary artery disease (CAD). …
features of dilated cardiomyopathy (DCM) in individuals with coronary artery disease (CAD). …
Ethnicity, consanguinity, and genetic architecture of hypertrophic cardiomyopathy
…, S Halawa, A Galal, M Fathy, PI Theotokis… - European heart …, 2023 - academic.oup.com
Aims Hypertrophic cardiomyopathy (HCM) is characterized by phenotypic heterogeneity
that is partly explained by the diversity of genetic variants contributing to disease. Accurate …
that is partly explained by the diversity of genetic variants contributing to disease. Accurate …