Publication 'I don't want to hurt him.' Parents' experiences of learning to administer clotting factor to their child.
Publication 'You're more likely to tell the GP if you're asked': women's views of care from general practitioners in the first postpartum year.
Publication "Did you find that out in time?": New life trajectories of parents who choose to continue a pregnancy where a genetic disorder is diagnosed or likely.
Publication "It's about having the choice": Stakeholder perceptions of population-based genetic carrier screening for fragile X syndrome.
Publication 14q12 and severe Rett-like phenotypes: new clinical insights and physical mapping of FOXG1-regulatory elements.
Publication A case of myelopathy, myopathy, peripheral neuropathy and subcortical grey matter degeneration associated with recessive compound heterozygous POLG1 mutations.
Publication A Comparative Analysis of Polyfunctional T Cells and Secreted Cytokines Induced by Bacille Calmette-Guerin Immunisation in Children and Adults
Publication A comparative risk assessment of burden of disease and injury attributable to 67 risk factors and risk factor clusters in 21 regions, 1990-2010: a systematic analysis for the Global Burden of Disease Study 2010.