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List of works by Bernard Keavney

4D flow MRI assessment of right atrial flow patterns in the normal heart - influence of caval vein arrangement and implications for the patent foramen ovale

scientific article

A common variant in the PTPN11 gene contributes to the risk of tetralogy of Fallot.

scientific article published on 13 April 2012

A genome-wide association study of congenital cardiovascular left-sided lesions shows association with a locus on chromosome 20.

scientific article published on 09 March 2016

A new phenotype of brain iron accumulation with dystonia, optic atrophy, and peripheral neuropathy

scientific article published on 16 April 2012

Ambulatory blood pressure is associated with polymorphic variation in P2X receptor genes.

scientific article published on 13 October 2008

Apolipoprotein(a) genetic sequence variants associated with systemic atherosclerosis and coronary atherosclerotic burden but not with venous thromboembolism

scientific article published in August 2012

Assessment of a large panel of candidate biomarkers of ageing in the Newcastle 85+ study

scientific article published on 16 August 2011

Association analyses based on false discovery rate implicate new loci for coronary artery disease ⬇️

scientific article published on 17 July 2017

Association analysis identifies new risk loci for congenital heart disease in Chinese populations

scientific article published on 18 August 2015

Association between Aldosterone Production and Variation in the 11β-Hydroxylase (CYP11B1) Gene

article

Association between C677T polymorphism of methylene tetrahydrofolate reductase and congenital heart disease: meta-analysis of 7697 cases and 13,125 controls

scientific article published on 22 July 2013

Association between common polymorphisms of the proopiomelanocortin gene and body fat distribution: a family study.

scientific article published in August 2005

Association of apolipoprotein E genotypes with lipid levels and coronary risk

scientific article

Association of cholesteryl ester transfer protein genotypes with CETP mass and activity, lipid levels, and coronary risk

scientific article published on June 2008

Association of congenital cardiovascular malformation and neuropsychiatric phenotypes with 15q11.2 (BP1-BP2) deletion in the UK Biobank

scientific article published on 23 April 2020

Author Correction: Promoter interactome of human embryonic stem cell-derived cardiomyocytes connects GWAS regions to cardiac gene networks

scientific article published in Nature Communications

Bariatric surgery and its impact on cardiovascular disease and mortality: a systematic review and meta-analysis.

scientific article

Bases adjacent to mononucleotide repeats show an increased single nucleotide polymorphism frequency in the human genome ⬇️

scientific article published on February 11, 2011

C reactive protein and the risk of cardiovascular disease ⬇️

scientific article published on February 15, 2011

CMV-independent increase in CD27-CD28+ CD8+ EMRA T cells is inversely related to mortality in octogenarians

scientific article published on 21 January 2020

Cardiac Imaging of Aortic Valve Area from 34,287 UK Biobank Participants Reveal Novel Genetic Associations and Shared Genetic Comorbidity with Multiple Disease Phenotypes

scientific article published on 30 October 2020

Chromosome 16q22 variants in a region associated with cardiovascular phenotypes correlate with ZFHX3 expression in a transcript-specific manner

scientific article

Chromosome 9p21 SNPs Associated with Multiple Disease Phenotypes Correlate with ANRIL Expression

scientific article published in April 2010

Common Genetic Variants Contribute to Risk of Transposition of the Great Arteries

scientific article published on 10 December 2021

Common Variation at the 11-β Hydroxysteroid Dehydrogenase Type 1 Gene Is Associated With Left Ventricular Mass

article

Common genetic polymorphisms and coronary heart disease

scientific article

Common variation in the CD36 (fatty acid translocase) gene is associated with left-ventricular mass

scientific article published on April 2011

Common variation neighbouring micro-RNA 22 is associated with increased left ventricular mass

scientific article

Concentric hypertrophic remodelling and subendocardial dysfunction in mitochondrial DNA point mutation carriers.

scientific article published on 4 November 2012

Contribution of global rare copy-number variants to the risk of sporadic congenital heart disease

scientific article

Coronary artery disease-related genetic variant on chromosome 10q11 is associated with carotid intima-media thickness and atherosclerosis

scientific article published on 16 September 2010

Correction of population stratification in large multi-ethnic association studies

scientific article

Defining cardiac adaptations and safety of endurance training in patients with m.3243A>G-related mitochondrial disease.

scientific article published on 03 June 2013

Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing.

scientific article published in August 2016

Erratum: Measured haplotype analysis of the aldosterone synthase gene and heart size

scientific article

Exome sequencing identifies GATA-2 mutation as the cause of dendritic cell, monocyte, B and NK lymphoid deficiency.

scientific article

Familial and phenotypic associations of the aldosterone Renin ratio

scientific article published on 9 October 2009

Functional significance of SRJ domain mutations in CITED2

scientific article (publication date: 2012)

Functionally significant, rare transcription factor variants in tetralogy of Fallot

scientific article

Genetic Mechanisms Mediating Atherosclerosis Susceptibility at the Chromosome 9p21 Locus ⬇️

scientific article published on June 1, 2011

Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits

scientific article published on 17 September 2018

Genetic analysis of over one million people identifies 535 novel loci for blood pressure

Genetic epidemiological studies of coronary heart disease

scientific article

Genetic information and the prediction of incident type 2 diabetes in a high-risk multiethnic population: the EpiDREAM genetic study

scientific article published on 19 April 2013

Genetic variants associated with myocardial infarction risk factors in over 8000 individuals from five ethnic groups: The INTERHEART Genetics Study

scientific article published on 23 January 2009

Genetic variation at the locus encompassing 11-beta hydroxylase and aldosterone synthase accounts for heritability in cortisol precursor (11-deoxycortisol) urinary metabolite excretion.

scientific article published on 2 November 2004

Genetic variation in VEGF does not contribute significantly to the risk of congenital cardiovascular malformation

scientific article

Genome-wide analysis identifies 12 loci influencing human reproductive behavior

scientific article

Genome-wide association analysis identifies novel blood pressure loci and offers biological insights into cardiovascular risk.

scientific article published on 30 January 2017

Genome-wide association study identifies loci on 12q24 and 13q32 associated with tetralogy of Fallot

scientific journal article

Genome-wide association study of multiple congenital heart disease phenotypes identifies a susceptibility locus for atrial septal defect at chromosome 4p16.

scientific article published on 26 May 2013

Genome-wide linkage analysis of electrocardiographic and echocardiographic left ventricular hypertrophy in families with hypertension

scientific article

Genomic Risk Prediction of Coronary Artery Disease in 480,000 Adults: Implications for Primary Prevention

scientific article published on 01 October 2018

Genotype at a promoter polymorphism of the interleukin-6 gene is associated with baseline levels of plasma C-reactive protein

scientific article

Genotype at the -174G/C polymorphism of the interleukin-6 gene is associated with common carotid artery intimal-medial thickness: family study and meta-analysis.

scientific article published on 22 September 2005

Genotype at the P554L variant of the hexose-6 phosphate dehydrogenase gene is associated with carotid intima-medial thickness ⬇️

scientific article

Global prevalence of congenital heart disease in school-age children: a meta-analysis and systematic review

scientific article published on 19 November 2020

High-throughput 13-parameter immunophenotyping identifies shifts in the circulating T-cell compartment following reperfusion in patients with acute myocardial infarction.

scientific article

Human Y Chromosome Exerts Pleiotropic Effects on Susceptibility to Atherosclerosis

scientific article published on 05 September 2019

Hypertension and renin-angiotensin system blockers are not associated with expression of angiotensin-converting enzyme 2 (ACE2) in the kidney

scientific article published on 27 October 2020

INSIG-2 promoter polymorphism and obesity related phenotypes: association study in 1428 members of 248 families

scientific article

Identification of a <i>POLG</i> Variant in a Family with Arrhythmogenic Cardiomyopathy and Left Ventricular Fibrosis

scientific article published on 04 December 2020

Impact of age on the prognostic value of left ventricular function in relation to procedural outcomes following percutaneous coronary intervention: Insights from the British cardiovascular intervention society

scientific article published on 27 November 2014

Increased expression of fatty acid binding protein 4 and leptin in resident macrophages characterises atherosclerotic plaque rupture ⬇️

scientific article published on October 5, 2012

Left ventricular torsion, energetics, and diastolic function in normal human aging.

scientific article published on 16 December 2011

Low-frequency intermediate penetrance variants in the ROCK1 gene predispose to Tetralogy of Fallot

scientific article

Major bleeding after percutaneous coronary intervention and risk of subsequent mortality: a systematic review and meta-analysis

scientific article

Marked variation in heritability estimates of left ventricular mass depending on modality of measurement

scientific article published on 19 September 2019

Measured haplotype analysis of the aldosterone synthase gene and heart size.

scientific article

More evidence against a causal association between C-reactive protein and diabetes

scientific article

Mutations in FAM111B cause hereditary fibrosing poikiloderma with tendon contracture, myopathy, and pulmonary fibrosis

scientific article

Mutations in multidomain protein MEGF8 identify a Carpenter syndrome subtype associated with defective lateralization

scientific article

Myocardial ischemia and reperfusion leads to transient CD8 immune deficiency and accelerated immunosenescence in CMV-seropositive patients

scientific article

Novel Blood Pressure Locus and Gene Discovery Using Genome-Wide Association Study and Expression Data Sets From Blood and the Kidney

scientific article

Phenotype-specific effect of chromosome 1q21.1 rearrangements and GJA5 duplications in 2436 congenital heart disease patients and 6760 controls

scientific article

Prevalence of left ventricular dysfunction in a UK community sample of very old people: the Newcastle 85+ study

scientific article

Promoter interactome of human embryonic stem cell-derived cardiomyocytes connects GWAS regions to cardiac gene networks.

scientific article

Protein-altering and regulatory genetic variants near GATA4 implicated in bicuspid aortic valve

scientific article

Publisher Correction: Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits

scholarly article published in Nature Genetics

Publisher Correction: Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits

erratum

Renal denervation and blood pressure reduction in resistant hypertension: a systematic review and meta-analysis.

scientific article

Research capacity. Enabling the genomic revolution in Africa

scientific article published in June 2014

STK39 polymorphisms and blood pressure: an association study in British Caucasians and assessment of cis-acting influences on gene expression

scientific article

Seven haemostatic gene polymorphisms in coronary disease: meta-analysis of 66,155 cases and 91,307 controls.

scientific article

Stroke following percutaneous coronary intervention: type-specific incidence, outcomes and determinants seen by the British Cardiovascular Intervention Society 2007-12.

scientific article published on 20 April 2015

Structural modelling of the cardiovascular system

scientific article published on 18 June 2018

T lymphocytes and fractalkine contribute to myocardial ischemia/reperfusion injury in patients.

scientific article

Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability

scientific article published on 9 September 2015

The C-532T polymorphism of the angiotensinogen gene is associated with pulse pressure: a possible explanation for heterogeneity in genetic association studies of AGT and hypertension

scientific article published on 12 November 2007

The interleukin-1 cluster, dyslipidaemia and risk of myocardial infarction

scientific article

Using population data for assessing next-generation sequencing performance

scientific article

Utility of NT-proBNP as a rule-out test for left ventricular dysfunction in very old people with limiting dyspnoea: the Newcastle 85+ Study.

scientific article

Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study

scientific article

Whole Exome Sequencing Reveals the Major Genetic Contributors to Nonsyndromic Tetralogy of Fallot

scientific article published on 01 February 2019

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