Hugh Watkins
University of Oxford
Publications 667
#1Roddy Walsh (NIH: National Institutes of Health)H-Index: 6
#2Francesco Mazzarotto (UniFI: University of Florence)H-Index: 6
Last.James S. Ware (Imperial College London)H-Index: 29
view all 28 authors...
Background International guidelines for variant interpretation in Mendelian disease set stringent criteria to report a variant as (likely) pathogenic, prioritising control of false-positive rate over test sensitivity and diagnostic yield. Genetic testing is also more likely informative in individuals with well-characterised variants from extensively studied European-ancestry populations. Inherited cardiomyopathies are relatively common Mendelian diseases that allow empirical calibration and asse...
5 CitationsSource
#1Julia Morris (Glas.: University of Glasgow)
#2Mark E.S. Bailey (Glas.: University of Glasgow)H-Index: 29
Last.Rona J. Strawbridge (Glas.: University of Glasgow)H-Index: 36
view all 24 authors...
CADM2 has been associated with a range of behavioural and metabolic traits, including physical activity, risk-taking, educational attainment, alcohol and cannabis use and obesity. Here, we set out to determine whether CADM2 contributes to mechanisms shared between mental and physical health disorders. We assessed genetic variants in the CADM2 locus for association with phenotypes in the UK Biobank, IMPROVE, PROCARDIS and SCARFSHEEP studies, before performing meta-analyses. A wide range of metabo...
#1Richard Nethononda (Chris Hani Baragwanath Hospital)H-Index: 8
#2Kathryn Mcgurk (University of Manchester)
Last.Hugh Watkins (University of Oxford)H-Index: 108
view all 11 authors...
Left ventricular (LV) hypertrophy is a strong risk factor for heart failure and cardiovascular death. ECG measures of LV mass are estimated as heritable in twin and family-based analyses and heritability estimates of LV mass measured by echocardiography are lower. We hypothesised that CMR-derived measurements, being more precise than echocardiographic measurements, would advance our understanding of heritable LV traits. We phenotyped 116 British families (427 individuals) by CMR and ECG, and und...
#1John M Taylor (University of Oxford)H-Index: 1
#2Judith Craft (University of Oxford)H-Index: 8
Last.Julian C. Knight (NIHR: National Institute for Health Research)H-Index: 39
view all 17 authors...
A multi-disciplinary approach to promote engagement, inform decision-making and support clinicians and patients is increasingly advocated to realise the potential of genome-scale sequencing in the clinic for patient benefit. Here we describe the results of establishing a genomic medicine multi-disciplinary team (GM-MDT) for case selection, processing, interpretation and return of results. We report a consecutive case series of 132 patients (involving 10 medical specialties with 43.2% cases havin...
#1Ladislav Valkovič (University of Oxford)H-Index: 13
#2W. Thomas Clarke (University of Oxford)H-Index: 18
Last.Christopher T. Rodgers (University of Cambridge)H-Index: 18
view all 9 authors...
Background Cardiovascular phosphorus MR spectroscopy (31P-CMRS) is a powerful tool for probing energetics in the human heart, through quantification of phosphocreatine (PCr) to adenosine triphosphate (ATP) ratio. In principle, 31P-CMRS can also measure cardiac intracellular pH (pHi) and the free energy of ATP hydrolysis (ΔGATP). However, these require determination of the inorganic phosphate (Pi) signal frequency and amplitude that are currently not robustly accessible because blood signals ofte...
#1James Buchanan (NIHR: National Institute for Health Research)H-Index: 38
#2Edward Blair (University of Oxford)H-Index: 21
Last.Sarah Wordsworth (NIHR: National Institute for Health Research)H-Index: 20
view all 7 authors...
Next generation sequencing (NGS) approaches are moving from research into clinical practice. However, the optimal NGS approach in well-defined adult-onset familial diseases, such as inherited cardiovascular disease, remains unclear. We aimed to determine which attributes encouraged or discouraged the uptake of genomic tests in this context, and whether this differed by test type. We conducted a web-based discrete choice experiment in health professionals in the UK who order NGS tests for inherit...
#1Adam Waring (University of Oxford)
#2Andrew R. Harper (University of Oxford)H-Index: 6
Last.Martin Farrall (University of Oxford)H-Index: 91
view all 9 authors...
Although rare missense variants underlying a number of Mendelian diseases have been noted to cluster in specific regions of proteins, this information may be underutilized when evaluating the pathogenicity of a gene or variant. We introduce ClusterBurden and GAMs, two methods for rapid association testing and predictive modelling, respectively, that combine variant burden and amino-acid residue clustering, in case-control studies. We show that ClusterBurden increases statistical power to identif...
#1Kathryn Mcgurk (University of Manchester)
#2Simon G. Williams (University of Manchester)H-Index: 31
Last.Bernard Keavney (University of Manchester)H-Index: 46
view all 8 authors...
Certain signalling lipids of the N-acyl ethanolamine (NAE) and ceramide (CER) classes are emerging as novel biomarkers of cardiovascular disease. We sought to establish the heritability of plasma NAEs (including endocannabinoid anandamide) and CERs, and identify common DNA variants influencing the circulating concentrations of the heritable lipid species. Eleven NAEs and thirty CERs were analysed in plasma samples from 999 members of 196 British Caucasian families, using targeted mass spectromet...
We thank Dr. Tanacli and colleagues for their interest in our recent paper on the identification of myocardial disarray in hypertrophic cardiomyopathy (HCM) [(1)][1]. They emphasize the importance of quantifying fibrosis because, in itself, it might contribute to the appearance of disarray. Our
#1Gillian Douglas (University of Oxford)H-Index: 18
#2Vedanta Mehta (University of Oxford)H-Index: 1
Last.Keith M. Channon (University of Oxford)H-Index: 70
view all 15 authors...