Publication Understanding parent-reported factors that influence children and young people's anxiety and depression presentations to emergency departments: A multi-site study.
Publication Correlation between clinical severity in patients with Rett syndrome with a p.R168X or p.T158M MECP2 mutation, and the direction and degree of skewing of X-chromosome inactivation.
Publication Adaptation of a mitochondrial complex III assay for automation: examination of reproducibility and precision.
Publication Spinocerebellar ataxia type 7: a distinctive form of autosomal dominant cerebellar ataxia with retinopathy and marked genetic anticipation.
Publication Complex I deficiency in association with structural abnormalities of the diaphragm and brain.
Publication A novel transcript of cyclin-dependent kinase-like 5 (CDKL5) has an alternative C-terminus and is the predominant transcript in brain.
Publication Phosphoribosylpyrophosphate synthetase superactivity and recurrent infections is caused by a p.Val142Leu mutation in PRS-I.
Publication Utility of next-generation sequencing technologies for the efficient genetic resolution of haematological disorders.