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Publications

 2017

 

AJHGFeb2017

American Journal of Human Genetics
February 2017
Mutations in INPP5K Cause a Form of Congenital Muscular Dystrophy Overlapping Marinesco-Sjögren Syndrome and Dystroglycanopathy.


2016

HMG

Human Molecular Genetics
August 2016
Fine-mapping, Novel Loci Identification, and SNP Association Transferability in a Genome-Wide Association Study of QRS Duration in African Americans.

JACC

J Am Coll Cardiol
September 2016

52 Genetic Loci Influencing Myocardial Mass.

CardiovascRes

Cardiovasc Res.
July 2016

MicroRNA-153 targeting of KCNQ4 contributes to vascular dysfunction in hypertension.

 

PLOS

PLoS Medicine
June 2016
Investigating the Causal Relationship of C-Reactive Protein with 32 Complex Somatic and Psychiatric Outcomes: A Large-Scale Cross-Consortium Mendelian Randomization Study.

PGN

Journal of Pediatric Gastroenterology and Nutrition

 March 2016
Coagulation Gene Expression Profiling in Infants with Necrotizing Enterocolitis.

  IntJCardiol

International Journal of Cardiology
 February 2016
Whole exome sequence analysis reveals a homozygous mutation in PNPLA2 as the cause of severe dilated cardiomyopathy secondary to neutral lipid storage disease

2015

CardioRes

Cardiovascular Research
 February 2015
 Role of common and rare variants in SCN10A: results from the Brugada syndrome QRS locus gene discovery collaborative study.

 Nature

Nature
 March 2015
The UK10K project identifies rare variants in health and disease.

 

 

 

2014

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Circ Cardiovasc Genet
June 2014
Sequencing of SCN5A Identifies Rare and Common Variants Associated With Cardiac Conduction: Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium

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Nature Genetics
June 2014
Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization.

 

 

 

 

2013

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PLoS One
Nov 2013
Genome wide analysis of drug-induced torsades de pointes: lack of common variants with large effect sizes.

 

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Br J Clin Pharmacol.
July 2013
The genetics of pro-arrhythmic adverse drug reactions.

 

 

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Nat Genet
April 2013
Identification of heart rate-associated loci and their effects on cardiac conduction and rhythm disorders.

 

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Hum Mol Genet
Jan 2013
The IBC 50K SNP array BMI Consortium. Gene-centric meta-analyses of 108 912 individuals confirm known body mass index loci and reveal three novel signals.

2012

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Cytokine
Oct 2012
The age-dependency of genetic and environmental influences on serum cytokine levels: A twin study.

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J Am Coll Cardiol
Aug 2012
Common Variation in the NOS1AP Gene Is Associated With Drug-Induced QT Prolongation and Ventricular Arrhythmia.

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Molecular Vision
June 2012
Common TGFß2, BMP4, and FOXC1 variants are not associated with primary open-angle glaucom
a.

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Circ Cardiovasc Genet
Feb 2012
A large candidate gene survey identifies the KCNE1 D85N polymorphism as a possible modulator of drug-induced torsades de pointes.

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Eur Heart J
Feb 2012
Undernutrition in adolescence and risk of cardiovascular disease
.

 

 

   

2011

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Circulation
Feb 2011
Meta-analysis of genome-wide association studies in over 80,000 subjects identifies 11 novel loci for C-reactive protein levels.

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Am J Hum Genet
Jan 2011
Meta-analysis of gene-centric association studies identifies new genes for adult height.

 

   

2010

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Nat Genet
Dec 2010
Common variants in 22 loci are associated with QRS duration and cardiac ventricular conduction.

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J Antimicrob Chemother
Dec 2010
Tribal ethnicity and CYP2B6 genetics in Ugandan and Zimbabwean populations in the UK: implications for efavirenz dosing in HIV infection.

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Hum Mol Genet
Oct 2010
Genome-wide association analysis identifies multiple loci related to resting heart rate.

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Genome Med
May 2010
Novel genes for QTc interval. How much heritability is explained, and how much is left to find?

2009

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PLoS one
July 2009
Common Genetic Variation Near the Phospholamban Gene Is Associated with Cardiac Repolarisation: Meta-Analysis of Three Genome-Wide Association Studies.

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Investigative Opthalmology and Visual Science
April 2009
Genetic risk for primary open-angle glaucoma determined by LMX1B haplotypes.

 

   

2008

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J Cardiovasc Electrophysiol
April 2008
Heritability of QT interval: how much is explained by genes for resting heart rate?

 

     

2007

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Atherosclerosis
October 2007
SHP-2 and PI3-kinase genes PTPN11 and PIK3R1 may influence serum apoB and LDL cholesterol levels in normal women.

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Obesity (Silver Spring)
July 2007
The STAT-3 gene is associated with insulin sensitivity in a normal female twins

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Obesity (Silver Spring)
Jan 2007
The SH2B gene is associated with serum leptin and body fat in normal fe
male twins.

 

2006

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Diabetologia
Nov 2006
Phosphatidylinositol 3-kinase p85a regulatory subunit gene PIK3R1 haplotype is associated with body fat and serum leptin in a female twin population.

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Diabetologia
Feb 2006
Common polymorphisms in the SOCS3 gene are not associated with body weight, insulin sensitivity or lipid profile in normal women.

   

2005

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Biochem Biophys Res Commun
Mar 2005
Hypertrophic effects of urocortin homologous peptides are mediated via activation of the Akt pathway.

     

 

2004

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Journal of Molecular and Cellular Cardiology
Mar 2004
Signal transduction pathways in the hypertrophic effect of hsp56 in neonatal cardiomyocytes.

     

 

2002

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AJRCCM
Aug 2002
The ACE genotype and Oxygen Saturation at high altitude.

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Atherosclerosis
July 2002
Genetic determinants of the response to fibrate treatment.

 

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Mol Endocrinol
May 2002
Characterization of the human PPARa promoter: identification of a functional HNF4/ARP1 response element.

 

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Circulation
March 2002

PPARa gene polymorphisms are associated with progression of coronary atherosclerosis. 

 

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Circulation
February 2002

Peroxisome proliferator-activated receptor alpha gene regulates left ventricular growth in response to exercise and hypertension.

 

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Eur Applied Physiol
Jan 2002
Endurance enhancement related to the ACE II genotype is not due to improved cardiorespiratory fitness.

   

2001

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Hum Genet
March 2001
Elite swimmers and the D allele of the ACE I/D polymorphism.

     

2000

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Diabetologia
May 2000
Variation in the PPARa gene is associated with altered function in vitro and plasma lipid concentrations in Type II diabetic subjects.

     

 

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