Susan Blanton

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Susan Blanton, PhD received her Ph.D. in Human Genetics from Virginia Commonwealth University in 1985. Over the past 21 years, Dr. Blanton's primary research has focused on the mapping of Mendelian and complex diseases. Deafness, retinal diseases, skeletal dysplasias, cleft lip/palate, and club foot are among the diseases which she currently studies. She has also been involved in developing and implementing genetic education materials for Federal and appellate level judges and science writers in an ELSI sponsored project. Her current research also involves determining the level of genetic knowledge and attitudes towards genetic testing among the deaf. Dr. Blanton is Associate Director of Communications and Compliance at the MIHG, Associate Professor of Human Genetics and the Project coordinator for the GGMI.

Contact information:
sblanton@med.miami.edu
Assistant: Dori McLean
Miami Institute for Human Genomics
1120 NW 14th Street
Miami, FL 33136
ph: 305-243-8779
fax: 305.243.2396

Selected Publications

  1. Blanton SH, Hogue D, Wagner M, Wells D, Young ID, Hecht JT. Hereditary multiple exostoses: Confirmation of linkage to chromosomes 8 and 11. Am J Med Genet 62:150-159, 1996.
  2. Blanton SH, Crowder E. Malcolm S, Winter R, Gasser DL,et al. Exclusion of linkage between cleft lip with or without cleft palate and markers on chromosomes 4 and 6. Am J Hum Genet 58:239-241, 1996.
  3. Hecht JT, Hogue D, Wang Y, Blanton SH, et al.Hereditary multiple exostoses (EXT): Mutational studies of familial EXT1 cases and EXT-associated malignancies. Am J Hum Genet 60:80-86, 1997.4.
  4. Blanton SH, Kolle BS, Mulliken JB, Martin ER, Hecht JT. No evidence that MTHFR is a risk factor in the development of familial NSCLP. Am J Med Genet, 92:370-1, 2000.
  5. Bowne SJ, Sullivan LS, Blanton SH et al. Mutations in the inosine monophosphate dehydrogenase 1 gene (IMPDH1) cause the RP10 form of autosomal dominant retinitis pigmentosa. Hum Mol Genet 11:559-68, 2002.
  6. Blanton SH, Bertin T, Patel S, Stal S, Mulliken JB, Hecht JT. Nonsyndromic cleft lip and palate: Four chromosomal regions of interest. Am J Med Genet 125:28-37, 2004.
  7. Blanton SH, Bertin T, Serna ME, et al. Association of chromosomal regions 3p21.2, 10p13, and 16p13.3 with nonsyndromic cleft lip and palate. Am J Med Genet 125:23-7, 2004.
  8. Blanton SH, Cortez A, Stal S, Mulliken JB, Finnell RH, and Hecht JT. Variation in IRF6 Contributes to Nonsyndromic Cleft Lip and Palate. Am J Med Genet. 137(3):259-262, 2005.
  9. Chiquet BT, Lidral AC, Stal S, Mulliken JB, Moreno LM, Arco-Burgos M, Valencia-Ramirez C, Blanton SH, Hecht JT. CRISPLD2: A Novel NSCLP Candidate Gene. Hum Mol Genet 16(18):2241-8, 2007.
  10. Hecht JT. Ester A. Scott A. Wise CA. Iovannisci DM. Lammer EJ. Langlois PH. Blanton SH. NAT2 variation and idiopathic talipes equinovarus (clubfoot). American Journal of Medical Genetics. Part A. 143(19):2285-91, 2007.