User profiles for Pantazis Theotokis

Pantazis Theotokis

Imperial 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 …

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 …

Reevaluating the genetic contribution of monogenic dilated cardiomyopathy

…, TJW Dawes, LE Felkin, M Ahmad, PI Theotokis… - Circulation, 2020 - Am Heart Assoc
Background: Dilated cardiomyopathy (DCM) is genetically heterogeneous, with >100
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 …

[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 …

[HTML][HTML] Disease-specific variant pathogenicity prediction significantly improves variant interpretation in inherited cardiac conditions

…, M Ahmad, F Mazzarotto, A Roberts, PI Theotokis… - Genetics in …, 2021 - nature.com
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 …

[PDF][PDF] The penetrance of rare variants in cardiomyopathy-associated genes: A cross-sectional approach to estimating penetrance for secondary findings

KA McGurk, X Zhang, P Theotokis, K Thomson… - The American Journal of …, 2023 - cell.com
Understanding the penetrance of pathogenic variants identified as secondary findings (SFs)
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 …

Assessing the association between genetic and phenotypic features of dilated cardiomyopathy and outcome in patients with coronary artery disease

…, KA McGurk, A de Marvao, PI Theotokis… - European Journal of …, 2024 - Wiley Online Library
Aims To examine the relevance of genetic and cardiovascular magnetic resonance (CMR)
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 …