Jane A. Hurst

TL;DR: This chapter discusses pregnancy and fertility in the context of cancer and discusses the role of informed consent and informed decision-making in the development of conception and fertility.

TL;DR: An end-to-end workflow for the use of rapid WGS for diagnosis in critically ill children in a UK National Health Service diagnostic setting is developed, providing a robust workflow that will inform and facilitate the rollout of rapid genome sequencing in the NHS and other healthcare systems globally.

TL;DR: The identification of causal mutations in Sorting Nexin 14 (SNX14) found in seven affected individuals from three unrelated consanguineous families who presented with recessively inherited moderate-severe intellectual disability, Cerebellar ataxia, early-onset cerebellar atrophy, sensorineural hearing loss, and the distinctive association of progressively coarsening facial features, relative macrocephaly, andthe absence of seizures are reported.

TL;DR: A series of 44 unrelated patients in whom COL2A1 screening demonstrated normal results but whose phenotype was nevertheless highly suggestive of either Stickler syndrome (with ocular involvement) or Marshall syndrome were investigated for mutations in the COL11A1 gene.