Sharon M. Osgood

TL;DR: Fungal infections remain a major determinant of survival in CGD, and X-linked patients generally had more severe disease, and this was generally in those with lower residual superoxide production.

TL;DR: Characterisation of maternal peripheral immune phenotypes for 33 longitudinally sampled normal pregnancies is reported, using clinical measurements of complete blood counts and major immune cell populations, as well as high parameter flow cytometry for 30 different leukocyte antigens characterising 79 cell populations.

TL;DR: WBS is a complex multisystem genetic disorder with diverse ophthalmic findings that differ from those seen in isolated elastin mediated SVAS, and results suggest other genes within the WBS critical region may be involved in observed ocular phenotypes and perhaps broader ocular development.

TL;DR: Data show that elastin insufficiency impacts lung physiology in the form of increased air trapping and obstruction, suggesting a role for lung function monitoring in adults with WS.

TL;DR: Novel strategies for identification of disease modifiers in rare conditions like WBS are presented, including extreme phenotyping and prioritization of non-synonymous variants with increased predicted functional impact along with an allele frequency difference between the extreme phenotype groups.