Since the discovery that mutations in the 5! untranslated region (UTR) of ANKRD26 are
responsible for an autosomal-dominant form of thrombocytopenia (ANKRD26-RT), 1 21 …

Clinical exome sequencing (ES) is the most comprehensive genomic test to identify
underlying genetic diseases in Canada. We performed this retrospective cohort study to …

Olaparib is the first Health Canada-approved agent in metastatic prostate cancer to use a
companion diagnostic to identify alterations in BRCA1, BRCA2, or ATM. As olaparib is …

Objective To expand the clinical phenotype of the X-linked HNRNPH2-related
neurodevelopmental disorder in 33 individuals. Methods Participants were diagnosed with …

Pulmonary arterial hypertension (PAH) is a disease characterized by pathological
remodeling of the pulmonary vasculature causing elevated pulmonary artery pressures and …

The introduction of next generation sequencing (NGS) technologies has revolutionized the
practice of Medical Genetics, and despite initial reticence in its application to prenatal …

Objective Past studies of fetal tetralogy of fallot (ToF) have reported extra‐cardiac anomalies
(ECAs) in 17%–45%, genetic syndromes in as low as 20% and poor postnatal outcomes …

Germline GATA2 mutations have been associated with a vast array of clinical
manifestations, as well as hematological deficiencies and a propensity to AML or MDS. We …

Neurodevelopmental disorders with intellectual disability (ND/ID) are a heterogeneous
group of diseases driving lifelong deficits in cognition and behavior with no definitive cure. X …

Marden–Walker syndrome is challenging to diagnose, as there is significant overlap with
other multi‐system congenital contracture syndromes including Beals congenital …