Varret, Mathilde

Top Publications

Top Publications Authored or Co-Authored by "Varret, Mathilde"

• 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
• 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
• Prostaglandin transporter mutations cause pachydermoperiostosis with myelofibrosis

  Human Mutation, Volume 33, No. 8, Year 2012, Citations 74
• Posttranscriptional Regulation of the Human LDL Receptor by the U2-Spliceosome

  Circulation Research, Volume 130, No. 1, Year 2022, Citations 46