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Congenital heart defects (CHDs) have a neonatal incidence of 0.8-1% (refs. 1,2). Despite abundant examples of monogenic CHD in humans and mice, CHD has a low absolute sibling recurrence risk (∼2.7%), suggesting a considerable role for de novo mutations (DNMs) and/or incomplete penetrance. De novo protein-truncating variants (PTVs) have been shown to be(More)
Background.  Variants of several genes encoding transcription modulators, signal transduction, and structural proteins are known to cause Mendelian congenital heart disease (CHD). NKX2-5 and GATA4 were the first CHD-causing genes identified by linkage analysis in large affected families. Mutations of TBX5 cause Holt-Oram syndrome, which includes CHD as a(More)
Arya, Sukrat and Robinson, Thelma E. and GranadosRiveron, Javier T. and Udosen, Inyang and Morris, Glenn E. and Holt, Ian and Furling, Dennis and Chaouch, Soraya and Haworth, Ben and Southall, Noel and Shinn, Paul and Zheng, Wei and Austin, Christopher P. and Hayes, Christopher J. and Brook, J. David (2014) High-content screening identifies small molecules(More)
Myotonic dystrophy (DM) is a multi-system neuromuscular disorder for which there is no treatment. We have developed a medium throughput phenotypic assay, based on the identification of nuclear foci in DM patient cell lines using in situ hybridization and high-content imaging to screen for potentially useful therapeutic compounds. A series of further assays(More)
The importance of microRNAs in development is now widely accepted. However, identifying the specific targets of individual microRNAs and understanding their biological significance remains a major challenge. We have used the zebrafish model system to evaluate the expression and function of microRNAs potentially involved in muscle development and study their(More)
The great flurry of activity which followed the announcement of Ziegler and Natta's initial results has led to the discovery of an enormous number of catalyst systems which are effective in stereospecific polymerization. However, there is little more understanding now than in 1955 of how most of these systems work. Now that the initial excitement has(More)
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