We examined the utility of clinical and research processes in the reanalysis of publicly‐funded
clinical exome sequencing data in Ontario, Canada. In partnership with eight sites, we …

Breast tissue density (BTD) is known to increase the risk of breast cancer but is not routinely
used in the risk assessment of the population-based High-Risk Ontario Breast Screening …

Purpose To evaluate the diagnostic utility of publicly funded clinical exome sequencing (ES)
for patients with suspected rare genetic diseases. Methods We prospectively enrolled 297 …

The metabolism of cardiolipin was investigated in a Chinese hamster lung fibroblast cell
line CCL16-B2 deficient in oxidative energy metabolism and its parental cell line CCL16-B1. …

Background and Objectives: Phenotypically, Sw (a+) erythrocytes have been classified as
either 700: 4, 41 or 700: 4,–41. Since anti-700.4, in particular, and sometimes anti-700.41 are …

Objective: The Ritscher-Schinzel syndrome (RSS), also known as the 3C syndrome, is an
autosomal recessive disorder classically comprising craniofacial, cerebellar and cardiac …

Background: The rapid evolution of genetic technologies and utilization of genetic information
for clinical decision-making has necessitated increased surgeon participation in genetic …

The incorporation of [1- 14 C]palmitic or [1- 14 C]oleic acid into phosphatidylcholine and the
effect on blood group antigen expression were examined in human erythrocytes stored at 4…

Methods Beginning in September 2021, broad community stakeholder education sessions
and individual meetings established connections with all 19 clinical genetic clinics and 9 …

Chronic transfusion therapy to prevent and treat the complications of sickle cell disease has
become more frequent. Previous studies have shown that the iron overload that results from …