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Catherine Francis
Imperial College London
10Publications
4H-index
35Citations
Publications 10
Newest
#1Catherine Francis (NIH: National Institutes of Health)H-Index: 4
#2Yalda Jamshidi (St George's, University of London)H-Index: 23
view all 6 authors...
Background The 100,000 Genomes Project offers an unprecedented opportunity to leverage whole genome sequencing data to characterise the hereditary basis of Familial Thoracic Aortic Aneurysm Disease (FTAAD). FTAAD is a heterogeneous group of syndromic and isolated aortopathies. The genetic basis of this presentation often remains undiscovered. Purpose To define the FTAAD cohorts available in the 100,000 Genomes Project and assess the current diagnostic yield and space for future discovery. Materi...
#1Nicola Whiffin (Imperial College London)H-Index: 16
#2Roddy Walsh (Imperial College London)H-Index: 15
Last.Upasana Tayal (Imperial College London)H-Index: 8
view all 22 authors...
Internationally adopted variant interpretation guidelines from the American College of Medical Genetics and Genomics (ACMG) are generic and require disease-specific refinement. Here we developed CardioClassifier ( http://www.cardioclassifier.org ), a semiautomated decision-support tool for inherited cardiac conditions (ICCs). CardioClassifier integrates data retrieved from multiple sources with user-input case-specific information, through an interactive interface, to support variant interpretat...
#1Marjolijn Renard (UGent: Ghent University)H-Index: 17
#2Catherine Francis (NIH: National Institutes of Health)H-Index: 4
Last.Bert Callewaert (UGent: Ghent University)H-Index: 26
view all 22 authors...
Abstract Background Thoracic aortic aneurysms progressively enlarge and predispose to acute aortic dissections. Up to 25% of individuals with thoracic aortic disease harbor an underlying Mendelian pathogenic variant. An evidence-based strategy for selection of genes to test in hereditary thoracic aortic aneurysm and dissection (HTAAD) helps inform family screening and intervention to prevent life-threatening thoracic aortic events. Objectives The purpose of this study was to accurately identify ...
#1Antonio de Marvao (Imperial College London)H-Index: 12
#2Carlo Biffi (Imperial College London)H-Index: 3
Last.Iain PierceH-Index: 4
view all 26 authors...
Introduction Hypertrophic cardiomyopathy (HCM) is characterised by great phenotypic diversity and broad spectrum of clinical courses. The genetic, environmental and phenotypic determinants of outcome remain poorly understood. We integrated machine-learning analysis of cardiovascular magnetic resonance (CMR) with computational modelling to define the effects of genetic variation on the heart in both HCM patients and heathy volunteers. Methods Healthy volunteers were recruited at Imperial College ...
#1Carlo Biffi (Imperial College London)H-Index: 3
#2Antonio de Marvao (Imperial College London)H-Index: 12
Last.Rachel Buchan (NIH: National Institutes of Health)H-Index: 10
view all 13 authors...
Motivation: Left ventricular (LV) hypertrophy is a strong predictor of cardiovascular outcomes, but its genetic regulation remains largely unexplained. Conventional phenotyping relies on manual calculation of LV mass and wall thickness, but advanced cardiac image analysis presents an opportunity for high-throughput mapping of genotype-phenotype associations in three dimensions (3D). Results: High-resolution cardiac magnetic resonance images were automatically segmented in 1124 healthy volunteers...
#1Nicola Whiffin (Imperial College London)H-Index: 16
#2Roddy Walsh (Imperial College London)H-Index: 15
Last.Alicja Wilk (Imperial College London)H-Index: 4
view all 22 authors...
Purpose: Internationally-adopted variant interpretation guidelines from the American College of Medical Genetics and Genomics (ACMG) are generic and require disease-specific refinement. Here we developed CardioClassifier (www.cardioclassifier.org), a semi-automated decision-support tool for inherited cardiac conditions (ICCs). Methods: CardioClassifier integrates data retrieved from multiple sources with user-input case-specific information, through an interactive interface, to support variant i...
#1Antonio de Marvao (Imperial College London)H-Index: 12
#2Hannah Meyer (EMBL-EBI: European Bioinformatics Institute)H-Index: 5
Last.Stuart A. Cook (NUS: National University of Singapore)H-Index: 44
view all 10 authors...
Abstract Background The genetic and environmental factors that define cardiac structure and function, particularly at the intersection between health and the earliest stages of disease, remain poorly characterised. Conventional cardiovascular imaging provides limited, semi-quantitative, and global metrics of the heart, and these methods are insensitive to regional variation. We aimed to assess whether three-dimensional (3D) cardiac magnetic resonance (CMR) phenotyping could provide methodologica...
#1Catherine FrancisH-Index: 4
#2Antonio de Marvao (Hammersmith Hospital)
Last.Roddy Walsh (Imperial College London)H-Index: 15
view all 12 authors...
Introduction As gene sequencing becomes more widespread, the clinical implications of incidental findings in patients’ genomes are becoming more complex. We identified healthy volunteers with mutations known to cause penetrant, Mendelian aortic disease, and examined the association of these mutations with aortic pulse wave velocity (PWV); a key marker of cardiovascular risk and aortic elastic function. Methods We recruited 476 healthy volunteers with no known history of cardiovascular risk facto...
#1Daniel M. Reed (NIH: National Institutes of Health)H-Index: 8
#2Gabor Foldes (NIH: National Institutes of Health)H-Index: 16
Last.Jane A. Mitchell (NIH: National Institutes of Health)H-Index: 63
view all 10 authors...
Abstract Endothelial cells form a highly specialised lining of all blood vessels where they provide an anti-thrombotic surface on the luminal side and protect the underlying vascular smooth muscle on the abluminal side. Specialised functions of endothelial cells include their unique ability to release vasoactive hormones and to morphologically adapt to complex shear stress. Stem cell derived-endothelial cells have a growing number of applications and will be critical in any organ regeneration pr...
#1Catherine FrancisH-Index: 4
#2Stamatia PrapaH-Index: 1
Last.Stuart A. CookH-Index: 44
view all 10 authors...
Introduction The common heritable condition of Bicuspid Aortic Valve (BAV) is phenotypically heterogeneous, with valve dysfunction and aortopathy the major complications. We report overrepresentation of rare, likely pathogenic variants in target genes in a large cohort of 176 patients with BAV. We also describe a more severe aortic phenotype in patients with more than one known or likely pathogenic variant, supporting a multi-hit hypothesis for development of complications of BAV. Methods We rec...
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