Genetic diagnosis of familial hypercholesterolemia using a DNA-array based platform

Mutations in PCSK9 cause autosomal dominant hypercholesterolemia

Marianne Abifadel, Mathilde Varret, Jean‐Pierre Rabès et al. · Nature Genetics · 2003 · 3K citations

Genetic Disorder, Genetics, Pathology +4

Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification

Jan P. Schouten · Nucleic Acids Research · 2002 · 2.7K citations · Full text

A Spectrum of PCSK9 Alleles Contributes to Plasma Levels of Low-Density Lipoprotein Cholesterol

Ingrid K. Kotowski, Alexander Pertsemlidis, Amy Luke et al. · The American Journal of Human Genetics · 2006 · 516 citations · Full text

Metabolic Syndrome, Lipid Disorder, Plasma Levels +12

Comparison of Genetic Versus Clinical Diagnosis in Familial Hypercholesterolemia

Fernando Civeira, Emilio Ros, Estíbaliz Jarauta et al. · The American Journal of Cardiology · 2008 · 174 citations

Familial Hypercholesterolemia, Lipid Disorder, Cardiovascular Disease +9

The relationship of molecular genetic to clinical diagnosis of familial hypercholesterolemia in a Danish population

Dorte Damgaard, Mogens Lytken Larsen, Peter H. Nissen et al. · Atherosclerosis · 2005 · 173 citations

Familial Hypercholesterolemia, Genetic Testing, Lipid Disorder +13