Inherited monogenic disease has an enormous impact on the well-being of children and
their families. Over half of the children living with one of these conditions are without a …

Background: A novel autosomal recessive condition, dilated cardiomyopathy with ataxia (DCMA)
syndrome, has been identified in the Canadian Dariusleut Hutterite population, …

Defects in primary cilium biogenesis underlie the ciliopathies, a growing group of genetic
disorders. We describe a whole-genome siRNA-based reverse genetics screen for defects in …

Nager syndrome, first described more than 60 years ago, is the archetype of a class of
disorders called the acrofacial dysostoses, which are characterized by craniofacial and limb …

Joubert syndrome related disorders (JSRDs) have broad but variable phenotypic overlap
with other ciliopathies. The molecular etiology of this overlap is unclear but probably arises …

Steroid-resistant nephrotic syndrome (SRNS) causes 15% of chronic kidney disease cases.
A mutation in 1 of over 40 monogenic genes can be detected in approximately 30% of …

The Alberta Pregnancy Outcomes and Nutrition (APrON) study is an ongoing prospective
cohort study that recruits pregnant women early in pregnancy and, as of 2012, is following up …

Rhizomelic chondrodysplasia punctata (RCDP) is a group of disorders with overlapping
clinical features including rhizomelia, chondrodysplasia punctata, coronal clefts, cervical …

Myopathies are a clinically and etiologically heterogeneous group of disorders that can range
from limb girdle muscular dystrophy (LGMD) to syndromic forms with associated features …

In 2002/2003, the National Epidemiologic Database for the Study of Autism in Canada started
capturing information on children diagnosed with autism in different regions of the country. …