Familial Hypercholesterolaemia is an autosomal, dominant genetic disorder that leads to
elevated blood cholesterol and a dramatically increased risk of atherosclerosis. It is …

Background and aims Familial hypercholesterolemia (FH) is arguably the most common
monogenic disorder in humans, but severely under-diagnosed. Individuals with untreated …

Objective—Next-generation sequencing technology is transforming our understanding of
heterozygous familial hypercholesterolemia, including revision of prevalence estimates and …

Targeted next-generation sequencing in monogenic dyslipidemi... : Current Opinion in
Lipidology Targeted next-generation sequencing in monogenic dyslipidemias : Current …

In the early 1980s, the Nobel Prize winning cellular and molecular work of Mike Brown and
Joe Goldstein led to the identification of the LDL receptor gene as the first gene where …

Objective: Genetic determinants of severe hypertriglyceridemia include both common
variants with small effects (assessed using polygenic risk scores) plus heterozygous and …

Aims Familial hypercholesterolemia (FH) is the most common genetic disorder of lipid
metabolism. The gold standard for FH diagnosis is genetic testing, available, however, only …

Mutations in any of three genes (LDLR, APOB and PCSK9) are known to cause autosomal
dominant FH, but a mutation can be found in only∼ 40% of patients with a clinical diagnosis …

Background—Homozygous familial hypercholesterolemia (HoFH) is a rare disease
characterized by elevated plasma levels of low-density lipoprotein cholesterol (LDL-C) and …

Cochlear implantation is currently the treatment of choice for children with severe to
profound hearing impairment. However, the outcomes with cochlear implants (CIs) vary …