Boileau, Catherine R.

Top Publications

Top Publications Authored or Co-Authored by "Boileau, Catherine R."

• Mutations in PCSK9 cause autosomal dominant hypercholesterolemia

  Nature Genetics, Volume 34, No. 2, Year 2003, Citations 2691
• Familial hypercholesterolaemia is underdiagnosed and undertreated in the general population: Guidance for clinicians to prevent coronary heart disease

  European Heart Journal, Volume 34, No. 45, Year 2013, Citations 1823
• Mutations in the TGFβb binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias

  American Journal of Human Genetics, Volume 89, No. 1, Year 2011, Citations 204
• A third major locus for autosomal dominant hypercholesterolemia maps to 1p34.1-p32

  American Journal of Human Genetics, Volume 64, No. 5, Year 1999, Citations 170
• Identification and characterization of new gain-of-function mutations in the PCSK9 gene responsible for autosomal dominant hypercholesterolemia

  Atherosclerosis, Volume 223, No. 2, Year 2012, Citations 96