South, Andrew P.

Top Publications

Top Publications Authored or Co-Authored by "South, Andrew P."

• Loss of kindlin-1, a human homolog of the Caenorhabditis elegans actin-extracellular-matrix linker protein UNC-112, causes Kindler syndrome

  American Journal of Human Genetics, Volume 73, No. 1, Year 2003, Citations 331
• Lipoid proteinosis maps to 1q21 and is caused by mutations in the extracellular matrix protein 1 gene (ECM1)

  Human Molecular Genetics, Volume 11, No. 7, Year 2002, Citations 277
• Oncostatin M Receptor-β Mutations Underlie Familial Primary Localized Cutaneous Amyloidosis

  American Journal of Human Genetics, Volume 82, No. 1, Year 2008, Citations 112
• Homozygous mutations in the 5′ region of the JUP gene result in cutaneous disease but normal heart development in children

  Journal of Investigative Dermatology, Volume 130, No. 6, Year 2010, Citations 54
• Mutations in GRHL2 result in an autosomal-recessive ectodermal dysplasia syndrome

  American Journal of Human Genetics, Volume 95, No. 3, Year 2014, Citations 49