Christopher J Joyce

Learn More
Sequencing the coding regions, the exome, of the human genome is one of the major current strategies to identify low frequency and rare variants associated with human disease traits. So far, the most widely used commercial exome capture reagents have mainly targeted the consensus coding sequence (CCDS) database. We report the design of an extended set of(More)
Previous studies have failed to identify mutations in the Wilson's disease gene ATP7B in a significant number of clinically diagnosed cases. This has led to concerns about genetic heterogeneity for this condition but also suggested the presence of unusual mutational mechanisms. We now present our findings in 181 patients from the United Kingdom with(More)
BACKGROUND Subtypes of the GABAA receptor subunit exhibit diverse temporal and spatial expression patterns. In silico comparative analysis was used to predict transcriptional regulatory features in individual mammalian GABAA receptor subunit genes, and to identify potential transcriptional regulatory components involved in the coordinate regulation of the(More)
BACKGROUND There is a paucity of published data on tissue Doppler imaging (TDI) in the critically ill. In a critically ill cohort, we studied the distribution of TDI and its correlation with other echocardiographic indices of preload. To aid hypothesis generation and sample size calculation, associations between echocardiographic variables, including the(More)
It is believed that increasing the X-factor (movement of the shoulders relative to the hips) during the golf swing can increase ball velocity at impact. Increasing the X-factor may also increase the risk of low back pain. The aim of this study was to provide recommendations for the three-dimensional (3D) measurement of the X-factor and lower trunk movement(More)
The aims of this study were (i) to determine whether significant three-dimensional (3D) trunk kinematic differences existed between a driver and a five-iron during a golf swing; and (ii) to determine the anthropometric, physiological, and trunk kinematic variables associated with clubhead speed. Trunk range of motion and golf swing kinematic data were(More)
Talent identification tests used at the Australian Football League's National Draft Combine assess the capacities of athletes to compete at a professional level. Tests created for the National Draft Combine are also commonly used for talent identification and athlete development in development pathways. The skills tests created by the Australian Football(More)
It is unknown whether skilled golfers will modify their kinematics when using drivers of different shaft properties. This study aimed to firstly determine if golf swing kinematics and swing parameters and related launch conditions differed when using modified drivers, then secondly, determine which kinematics were associated with clubhead speed. Twenty high(More)
Background Foot structure is often classified into flat foot, neutral and high arch type based on the variability of the Medial Longitudinal Arch (MLA). To date, the literature provided contrasting evidence on the age when MLA development stabilises in children. The influence of footwear on MLA development is also unknown. Aim This study aims to (i) clarify(More)
Skilled golfers are reported to be more flexible than lesser able golfers, which may assist in increased x-factor (shoulder-pelvis separation) at the top of the backswing. However, it is unknown if increased flexibility produces faster clubhead speed. The aim of this study was to investigate the correlations amongst trunk flexibility and x-factor, as well(More)