Thiart, Rochelle

Top Publications

Top Publications Authored or Co-Authored by "Thiart, Rochelle"

• 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
• Nonradioactive multiplex PCR screening strategy for the simultaneous detection of multiple low-density lipoprotein receptor gene mutations

  Genome Research, Volume 4, No. 6, Year 1995, Citations 63
• First report of CFTR mutations in black cystic fibrosis patients of southern African origin

  Journal of Medical Genetics, Volume 33, No. 9, Year 1996, Citations 59
• Founder mutations in the LDL receptor gene contribute significantly to the familial hypercholesterolemia phenotype in the indigenous South African population of mixed ancestry

  Clinical Genetics, Volume 55, No. 5, Year 1999, Citations 43
• CpG hotspot mutations at the LDL receptor locus are a frequent cause of familial hypercholesterolaemia among South African Indians

  Clinical Genetics, Volume 51, No. 6, Year 1997, Citations 32