To assess factors influencing the success of whole-genome sequencing for mainstream clinical diagnosis, we sequenced 217 individuals from 156 independent cases or families across a broad spectrum of disorders in whom previous screening had identified no pathogenic variants. We quantified the number of candidate variants identified using different strategies… (More)
We have studied regional anatomical variability in four term placentae, comparing both whole placental regions and intralobar zones and plates. In addition, we have emphasized the need for careful selection of the area to be sampled, rather than strictly randomized sampling of the whole placenta. A unique contribution is our quantitative data for a number… (More)
This report illustrates the difficulties in diagnosing complex cases and demonstrates how whole exome sequencing can resolve complex phenotypes.
BACKGROUND Relapses of childhood steroid-sensitive nephrotic syndrome (SSNS) are treated with a 4- to 8-week course of high-dose oral prednisolone, which may be associated with significant adverse effects. There is a clear association between upper respiratory tract infection (URTI) and relapse development. Previous studies in developing nations have… (More)
biological organization, ranging from molecules to humans, including clinical investigations. It is published 12 times a year investigations that illuminate normal or abnormal regulation and integration of physiological mechanisms at all levels of publishes original
A 2-year-old patient with a neuroblastoma developed haemolytic uraemic syndrome (HUS) following treatment with cisplatin and carboplatin. Following treatment with eculizumab, there was a substantial improvement in renal function with the recovery of the platelet count and the cessation of haemolysis. Subsequent investigations showed a novel, heterozygous… (More)