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Genome-wide association study identifies loci on 12q24 and 13q32 associated with Tetralogy of Fallot
We conducted a genome-wide association study to search for risk alleles associated with Tetralogy of Fallot (TOF), using a northern European discovery set of 835 cases and 5159 controls. A region onExpand
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Physical activity levels in adults with congenital heart disease
Background Regular physical activity is associated with many health benefits in patients with cardiac disease. Advances in treatment have resulted in an increasing population of adults withExpand
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Systematic survey of variants in TBX1 in non-syndromic tetralogy of Fallot identifies a novel 57 base pair deletion that reduces transcriptional activity but finds no evidence for association with
Background Tetralogy of Fallot (TOF) is common in individuals with hemizygous deletions of chromosome 22q11.2 that remove the cardiac transcription factor TBX1. Objective To assess the contributionExpand
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Medical treatment of Marfan syndrome: a time for change
It is accepted practice to prescribe β-blockers in order to retard aortic dilatation and prevent aortic dissection and rupture in patients with Marfan syndrome. A critical review of the publishedExpand
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Current trends in the management of heart disease in pregnancy.
BACKGROUND The management of heart disease in pregnancy is highly specialized. Guidelines are based on observational studies. This paper describes our experience of these patients, including adverseExpand
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Functionally Significant, Rare Transcription Factor Variants in Tetralogy of Fallot
Objective Rare variants in certain transcription factors involved in cardiac development cause Mendelian forms of congenital heart disease. The purpose of this study was to systematically assess theExpand
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Emerging therapeutic targets in the short QT syndrome
ABSTRACT Introduction: Short QT Syndrome (SQTS) is a rare but dangerous condition characterised by abbreviated repolarisation, atrial and ventricular arrhythmias and risk of sudden death. ImplantableExpand
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Association Between C677T Polymorphism of Methylene Tetrahydrofolate Reductase and Congenital Heart Disease: Meta-Analysis of 7697 Cases and 13 125 Controls
Background—Association between the C677T polymorphism of the methylene tetrahydrofolate reductase (MTHFR) gene and congenital heart disease (CHD) is contentious. Methods and Results—We comparedExpand
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Outcome in congenital heart disease
Summary Largely as a result of advances in cardiac surgery, at least 85% of children with children with congenital heart disease can expect to survive to adult life. As a consequence, there will soonExpand
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Kendall's Tau
TLDR
Kendall's τ (tau) is a non-parametric measure of correlation between two ranked variables. Expand
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