Inherited hemolytic anemias (IHAs) are genetic diseases that present with anemia due to the
increased destruction of circulating abnormal RBCs. The RBC abnormalities are classified …

Background Disorders of sex development (DSD) are congenital conditions in which
chromosomal, gonadal, or phenotypic sex is atypical. Clinical management of DSD is often …

Advancements in next-generation sequencing have greatly enhanced the development of
biomarker-driven cancer therapies. The affordability and availability of next-generation …

Many neurological conditions are caused by immensely heterogeneous gene mutations.
The diagnostic process is often long and complex with most patients undergoing multiple …

Background With the expanded availability of next generation sequencing (NGS)-based
clinical genetic tests, clinicians seeking to test patients with Mendelian diseases must weigh …

Hereditary haemolytic anaemias are genetically and phenotypically heterogeneous
disorders characterized by increased red cell destruction, with consequences ranging from …

Enrichment capture methods for NGS are widely used, however, they evolve rapidly and it is
necessary to periodically measure their strengths and weaknesses before transfer to …

Background: Many genes have been implicated in the development of congenital heart
disease (CHD). Next-generation sequencing offers opportunities for genetic testing but is …

The clinical variability seen in BAV aortopathy, in terms of phenotype and natural/clinical
history, suggests complex interactions between primary genetic defects, other modifier …

Aortopathy can be defined as aortic dilation, aneurysm, dissection, and tortuosity. Familial
aortopathy may occur secondary to fibrillin‐1 (FBN1) mutations in the setting of Marfan …