Andrew P Read

TL;DR: It is shown that patients from four families with WS4 have mutations in SOx10, whereas no mutation could be detected in patients with HSCR alone, and this point to an essential role ofSOx10 in the development of two neural crest-derived human cell lineages.

TL;DR: It is shown that some families with WS have mutations in the human homologue9 of Pax-3, which is one of a family of eight Pax genes known in mice which are involved in regulating embryonic development and which contains a highly conserved transcription control sequence, the paired box.

TL;DR: In accordance with a previous protocol, a second cohort of 254 mothers with a history of previous neural tube defect births was before a subsequent conception and continued until the time of the second missed menstrual period, finding no recurrences among the offspring of a further 114 mothers whose duration of supplementation fell short of the full regimen.

TL;DR: In the future of all-conquering genetic technology, who should be screened for what and by whom?

TL;DR: Observations suggest that the dominant HD mutation either confers a new property on the mRNA or alters an interaction at the protein level, suggesting the operation of interacting factors in determining specificity of cell loss.