Skinner, Steve

Director

Skinner, Steve

Dr. 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. He is a principal investigator on the NIH/Rare Diseases Clinical Research Network's Rett Syndrome Natural History Study and is involved in numerous clinical trials for patients with this neurodevelopmental disorder.

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.

Contact Information

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

Education

  • B.S., Wofford College, Spartanburg, S.C., 1975
  • 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

Appointments

  • Adjunct Full Professor, Department of Biological Sciences, Clemson University, 2010-present
  • Clinical Professor of Pediatrics, Department of Pediatrics, University of South Carolina School of Medicine, 2013-present

Selected Publications

  • Stallworth JL, Dy ME, Buchanan CB, Chen CF, Scott AE, Glaze DG, Lane JB, Lieberman DN, Oberman LM, Skinner SA, Tierney AE, Cutter GR, Percy AK, Neul JL, Kaufmann WE. Hand stereotypies: Lessons from the Rett Syndrome Natural History Study. Neurology. 2019 May 3.

  • Torti E, Keren B, Palmer EE, Zhu Z, Afenjar A, Anderson IJ, Andrews MV, Atkinson C, Au M, Berry SA, Bowling KM, Boyle J, Buratti J, Cathey SS, Charles P, Cogne B, Courtin T, Escobar LF, Finley SL, Graham JM Jr, Grange DK, Heron D, Hewson S, Hiatt SM, Hibbs KA, Jayakar P, Kalsner L, Larcher L, Lesca G, Mark PR, Miller K, Nava C, Nizon M, Pai GS, Pappas J, Parsons G, Payne K, Putoux A, Rabin R, Sabatier I, Shinawi M, Shur N, Skinner SA, Valence S, Warren H, Whalen S, Crunk A, Douglas G, Monaghan KG, Person RE, Willaert R, Solomon BD, Juusola J. Variants in TCF20 in neurodevelopmental disability: description of 27 new patients and review of literature. Genet Med. 2019 Feb 11. doi: 10.1038/s41436-019-0454-9. 

  • Percy AK, Lane J, Annese F, Warren H, Skinner SA. When Rett syndrome is due to genes other than MECP2. Neul JL. Transl Sci Rare Dis. 2018 Apr 13;3(1):49-53. doi: 10.3233/TRD-180021.

  • Tan WH, Bird LM, Sadhwani A, Barbieri-Welge RL, Skinner SA, Horowitz LT, Bacino CA, Noll LM, Fu C, Hundley RJ, Wink LK, Erickson CA, Barnes GN, Slavotinek A, Jeremy R, Rotenberg A, Kothare SV, Olson HE, Poduri A, Nespeca MP, Chu HC, Willen JM, Haas KF, Weeber EJ, Rufo PA. A randomized controlled trial of levodopa in patients with Angelman syndrome. Am J Med Genet A. 2017 Sep 25. doi: 10.1002/ajmg.a.38457. 

  • Tarquinio DC, Hou W, Berg A, Kaufmann WE, Lane JB, Skinner SA, Motil KJ, Neul JL, Percy AK, Glaze DG. Longitudinal course of epilepsy in Rett syndrome and related disorders. Brain. 2017 Feb;140(Pt 2):306-318. doi: 10.1093/brain/aww302. Epub 2016 Dec 21.

  • Kaufmann, WE, Stallworth, JL, Everman DB, Skinner SA. Neurobiologically-based treatments in Rett syndrome: opportunities and challenges. Expert Opin Orphan Drugs. 2016 Oct2;4(10): 1043-1055. doi:10.1080/21678707.2016.1229181. Review.

  • Jefferson A, Leonard H, Siafarikas A, Woodhead H, Fyfe S, Ward LM, Munns C, Motil K, Tarquinio D, Shapiro JR, Brismar T, Ben-Zeev B, Bisgaard AM, Coppola G, Ellaway C, Freilinger M, Geerts S, Humphreys P, Jones M, Lane J, Larsson G, Lotan M, Percy A, Pineda M, Skinner S, Syhler B, Thompson S, Weiss B, Witt Engerström I, Downs J. Clinical Guidelines for Management of Bone Health in Rett Syndrome Based on Expert Consensus and Available Evidence. PLoS One. 2016 Feb 5;11(2):e0146824. doi:10.1371/journal.pone.0146824. eCollection 2016.

  • Tarquinio DC, Hou W, Neul JL, Kaufmann WE, Glaze DG, Motil KJ, Skinner SA, Lee HS, Percy AK. The Changing Face of Survival in Rett Syndrome and MECP2-Related Disorders Pediatr Neurol. 2015 Nov;53(5):402-11. doi: 10.1016/j.pediatrneurol.2015.06.003. Epub 2015 Jun 26.

  • Herrera JA, Ward CS, Pitcher MR, Percy AK, Skinner S, Kaufmann WE, Glaze DG, Wehrens XH, Neul JL. Treatment of cardiac arrhythmias in a mouse model of Rett syndrome with Na+-channel-blocking antiepileptic drugs. Dis Model Mech. 2015 Apr;8(4):363-71. doi: 10.1242/dmm.020131. Epub 2015 Feb 20.

  • Cuddapah VA, Pillai RB, Shekar KV, Lane JB, Motil KJ, Skinner SA, Tarquinio DC, Glaze DG, McGwin G, Kaufmann WE, Percy AK, Neul JL, Olsen ML. Methyl-CpG-binding protein 2 (MECP2) mutation type is associated with disease severity in Rett syndrome. J Med Genet 2014 Mar; 51(3):152-8.

  • Neul JL, Lane JB, Lee HS, Geerts S, Barrish JO, Annese F, Baggett LM, Barnes K, Skinner SA, Motil KJ, Glaze DG, Kaufmann WE, Percy AK. Developmental delay in Rett syndrome: data from the natural history study. J Neurodev Disord. 2014; 6(1):20.

  • Tarquinio, DC, Motil KJ, Hou W, Lee HS, Glaze DG, Skinner SA, Neul JL, Annese F, McNair L, Barrish JO, Geerts SP, Lane JB, Percy AK.Growth failure and outcome in Rett syndrome: Specific growth references.Neurology 79(16):1653-61, 2012. Epub 2012 Nov 21.

  • Shinawi M, Sahoo T, Maramda B, Skinner SA, Skinner C, Chinault C, Zascacage R, Pters SU, Patel A Stevenson RE, Beaudet AL. 11p14.1 Microdeletions Associated with ADHD, Autism, Developmental Delay, and Obesity. Am J Med Genet A. 2011 June;155A(6):1272-80. Epub 2011 May 12.

  • 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 girls and women with Rett syndrome, J Pediatr Gastroenterol Nutr. 53(5):569-74, 2011.

  • 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: Interstitial 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.
Meet Makayla Gunn

Meet Makayla Gunn

Makayla was diagnosed with Rett Syndrome in April of 2015 at the age of two.   At about 18 months, we noticed she had started some repetitive hand motions, and her pediatrician was a little concerned that she did not have many words.  She had learned some sign language, and was saying ‘mama’ and ‘dada’, but that was it.  Then she suddenly stopped all of that.  At her 2 year old check-up, the pediatrician referred us to BabyNet, ...

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