Rabès, Jean Pierre H.

Top Publications

Top Publications Authored or Co-Authored by "Rabès, Jean Pierre H."

• Mutations in PCSK9 cause autosomal dominant hypercholesterolemia

  Nature Genetics, Volume 34, No. 2, Year 2003, Citations 2691
• 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
• Global perspective of familial hypercholesterolaemia: a cross-sectional study from the EAS Familial Hypercholesterolaemia Studies Collaboration (FHSC)

  The Lancet, Volume 398, No. 10312, Year 2021, Citations 127
• 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
• Characterization of Autosomal Dominant Hypercholesterolemia Caused by PCSK9 Gain of Function Mutations and Its Specific Treatment with Alirocumab, a PCSK9 Monoclonal Antibody

  Circulation: Cardiovascular Genetics, Volume 8, No. 6, Year 2015, Citations 92