Steven A. Skinner, MD

Director
Senior Clinical Geneticist – Greenwood Office

skinner sDr. Skinner is the Director of the Greenwood Genetic Center. He is a clinical geneticist involved in the evaluation and treatment of children and adults with birth defects, intellectual disabilities, and other genetic disorders. His areas of interest include Rett syndrome, Angelman syndrome, autism, and intellectual disabilities. Dr. Skinner has been actively involved in the treatment initiative of the Center and was instrumental in the development of the South Carolina Center for the Treatment of Genetic Disorders.

Dr. Skinner is certified by the American Board of Medical Genetics (1990) and by the American Board of Pediatrics (1985). He is a Founding Fellow of the American College of Medical Genetics and a Fellow of the American Academy of Pediatrics. He is also a member of the American Society of Human Genetics, the South Carolina Medical Association, the South Carolina Pediatric Society, and the Greenwood County Medical Society.

Selected Publications

  • Bird LM, Tan WH, Bacino CA, Peters SU, Skinner SA, Anselm I, Barbieri-Welge R, Bauer-Carlin A, Gentile JK, Glaze DG, Horowitz LT, Mohan KN, Nespeca MP, Sahoo T, Sarco D, Waisbren SE, Beaudet AL.A therapeutic trial of pro-methylation dietary supplements in Angelman syndrome. Am J Med Genet A. 2011 Dec. 155A(12):2956-63.

  • Motil KJ, Barrish JO, Lane J, Geerts SP, Annese F, McNair L, Percy AK, Skinner SA, Neul JL, Glaze DG. Vitamin D Deficiency is Prevalent in Females with Rett Syndrome. J Pediatr Gastroenterol Nutr. 2011 Nov; 53(5):569-74.

  • Lane JB, Lee HS, Smith LW, Cheng P, Percy AK, Glaze DG, Neul JL, Motil KJ, Barrish JO, Skinner SA, Annese F, McNair L, Graham J, Khwaja O, Barnes K, Krischer JP. Clinical severity and quality of life in children and adolescents with Rett syndrome. Neurology. 2011 Nov 15;77(20):1812-8.

  • Tan WH, Bacino CA, Skinner SA, Anselm I, Barbieri-Welge R, Bauer-Carlin A, Beaudet AL, Bichelli TJ, Gentile JK, Glaze DG, Horowitz LT, Kothare SV, Lee HS, Nespeca MP, Peters SU, Sahoo T, Sarco D, Waisbren SE, Bird LM: Angelman syndrome: Mutations influence features in early childhood, Am J Med Genet A. Jan:155(1):81-90, 2011.

  • Percy AK, Neul JL, Glaze DG, Motil KJ, Skinner SA, Khwaja O, Lee HS, Lane JB, Barrish JO, Annese F, McNair L, Graham J, Barnes K:  Rett syndrome diagnostic criteria: Lessons from the natural history study, Ann Neurol 68:951-955, 2010.

  • Geer JS, Skinner SA, Goldin E, Holden KR: Mucolipidosis type IV: a subtle pediatric neurodegenerative disorder, Pediatr Neurol. 42:223-6, 2010.

  • Glaze DG, Percy AK, Skinner S, Motil KJ, Neul JL, Barrish JO, Lane JB, Geerts SP, Annese F, Graham J, McNair L, Lee HS: Epilepsy and the natural history of Rett syndrome, Neurology 74:909-12, 2010.

  • Kirby RS, Lane JB, Childers J, Skinner SA, Annese F, Barrish JO, Glaze DG, Macleod P, Percy AK: Longevity in Rett Syndrome: Analysis of the North American Database, J Pediatr. 156:135-138, 2010.

  • Percy AK, Lee HS, Neul JL, Lane JB, Skinner SA, Geerts SP, Annese F, Graham J, McNair L, Motil KJ, Barrish JO, Glaze DG: Profiling Scoliosis in Rett Syndrome, Pediatr Res. 67:435-439, 2010.

  • Ben-Shachar S, Lanpher B, German JR, Qasaymeh M, Potocki L, Nagamani SC, Franco LM, Malphrus A, Bottenfield GW, Spence JE, Amato S, Rousseau JA, Moghaddam B, Skinner C, Skinner SA, Bernes S, Armstrong N, Shinawi M, Stankiewicz P, Patel A, Cheung SW, Lupski JR, Beaudet AL, Sahoo T: Microdeletion 15q13.3: a locus with incomplete penetrance for autism, mental retardation, and psychiatric disorders, J Med Genet. 46:382-8, 2009.

  • Percy AK, Lane JB, Childers J, Skinner S, Annese F, Barrish J, Caeg E, Glaze DG, MacLeod P: Rett Syndrome: North American Database, J Child Neurol. 22:1338-1341, 2007.

  • Erickson RP, Skinner SA, Jacquet H, Campion D, Buckley PG, Mantripragada KK, Dumanski JP: Does Chromosome 22 Have Anything to Do With Sex Determination: Further Studies on a 46,XX,22q11.2 Del Male, Am J Med Genet. 123A:64-67, 2003.

  • Schroer RJ, Phelan MC, Michaelis RC, Crawford EC, Skinner SA, Cuccaro M, Simensen RJ, Bishop J, Skinner C, Fender D, Stevenson RE: Autism and maternally derived aberrations of chromosome 15q, Am J Med Genet. 76:327-336, 1998.

  • Michaelis RC, Skinner SA, Deason R, Skinner C, Moore CL, Phelan MC: Intersitial deletion of 20p: new candidate region for Hirschsprung disease and autism? Am J Med Genet. 71:298-304, 1997.

  • Michaelis RC, Skinner SA, Lethco BA, Simensen RJ, Donlon TA, Tarleton J, Phelan MC: Deletion Involving D15S113 in a Mother and Son Without Angelman Syndrome: Refinement of the Angelman Syndrome Critical Deletion Region. Am J Med Genet. 55:120-126, 1995.

  • Schroer, RJ, Phelan MC, Michaelis RC, Crawford EC, Skinner SA, et al. Autism and Maternally Derived Aberrations of Chromosome 15q. Am J Med Genet. 76:327-336, 1998.

  • Skinner SA. Mental Retardation in South Carolina VI. Recognizable Syndromes of Presumed Genetic Cause. Proc Greenwood Genetic Center 15:71-75, 1996.

  • Michaelis RC, Skinner SA, Lethco BA, Simensen RJ, Donlon TA, Tarleton J, Phelan MC. Deletion Involving D15S113 in a Mother and Son Without Angelman Syndrome: Refinement of the Angelman Syndrome Critical Deletion Region. Am J Med Genet. 55:120-126, 1995.

  • Phelan MC, Saul RA, Gailey Jr TA, Skinner SA. Prenatal diagnosis of mosaic 4p- in a fetus with trisomy 21. Prenatal Diagnosis 15:274-277, 1995.

  • Skinner SA, Cooley L, Phelan MC, et al. Fetal Autopsies: A ten year experience. Proc Greenwood Genetic Center 13:26-28, 1994.

  • Macpherson RI, Skinner SA, Donnenfeld AE. Acampomelic Campomelic dysplasia. Pediatric Radiology 20:90-93, 1989.

  • Skinner SA, Stevenson RE, Flannery DB. Catel-Manzke Syndrome. Proc Greenwood Genetic Center 8:60-63, 1989.

  • Saul RA, Stevenson RE, Rogers RC, Skinner SA, Prouty LA, Flannery DB. Growth References from Conception to Adulthood. Jacobs Press, 1988.

Contact Information

Office (864) 941-8164
Fax (864) 388-1077
sas@ggc.org

Education

  • M.D., Medical University of South Carolina, Charleston, S.C., 1979
  • Residency (Family Practice), Richland Memorial Hospital, Columbia, S.C., 1979-81
  • Residency (Pediatrics), Richland Memorial Hospital, Columbia, S.C., 1981-83
  • Private Practice of Pediatrics, Georgetown, S.C., 1983-87
  • Fellowship (Clinical Genetics), Greenwood Genetic Center, Greenwood, S.C., 1987-89
  • Asst. Clinical Geneticist, Greenwood Genetic Center, 1989-1997
  • Director, Greenwood Community Children's Center, 1997-2000
  • Sr. Clinical Geneticist, Greenwood Genetic Center, 2000-present
  • Director, Greenwood Genetic Center, 2011-present